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Sample records for craniofacial skeletal evolution

  1. Craniofacial skeletal architecture and obstructive sleep apnoea syndrome severity.

    PubMed

    Costa E Sousa, Rui Augusto; dos Santos Gil, Nuno Alexandre

    2013-12-01

    Obstructive sleep apnoea syndrome (OSAS) is a sleep related breathing disorder caused by pharynx obstruction that often terminates in abrupt arousals and is capable of disrupting physiological sleep profile. Its' severity has been associated, among others, with craniofacial skeletal morphology. To investigate this relationship and elucidate craniofacial skeleton patterns in individuals without obvious maxillofacial abnormalities, 171 OSAS patients were studied with nocturnal polysomnographic record and cephalometric X-ray (24 variables). Cephalometric variables were compared between three apnoea/hypopnoea index (AHI) groups (AHI ≤ 15; 15 < AHI < 30; AHI ≥ 30) and uni/multivariate analysis between cephalometric variables and AHI were performed. The patients were predominantly men (83%), with a mean age of 48.1 years. Mean BMI and AHI were 28.4 kg/m(2) and 26.2, respectively. Most cephalometric variables differed among the three AHI groups. Fifteen cephalometric variables showed a correlation with AHI. Five cephalometric variables and BMI were independent AHI predictors. Cephalometric variables were better AHI predictors in normal weight patients. Significant evidence of craniofacial skeleton influence was found on OSAS severity, caudalization of the hyoid and lower sagittal facial projection being the most important patterns. From the cephalometric variables analysed, the hypopharynx calibre demonstrated a higher predictive value for AHI, independently of BMI.

  2. Study of craniofacial morphology and skeletal maturation in juvenile diabetics (Type I).

    PubMed

    El-Bialy, T; Aboul-Azm, S F; El-Sakhawy, M

    2000-08-01

    The aims of this study were to examine the craniofacial morphology of patients with juvenile diabetes, to investigate the effects of juvenile diabetes on general growth and skeletal maturation, and to analyze the pattern of association between craniofacial morphology and skeletal maturation in these patients. The sample consisted of 20 male patients with juvenile diabetes whose ages ranged from 14 to 16 years and who were affected with the condition at least 5 years before the study. Twenty normal subjects, with the same age range, were chosen as a control group. Height, weight, lateral cephalometric and hand-wrist radiographs were taken for all subjects, corrected for magnification distortion, and analyzed. The diabetic patients showed decreased skeletal maturation and decreased cephalometric linear and angular measurements when compared with the control group. These results should be considered when diabetic patients require orthodontic or orthopedic treatment.

  3. Craniofacial skeletal pattern: is it really correlated with the degree of adenoid obstruction?

    PubMed Central

    Feres, Murilo Fernando Neuppmann; Muniz, Tomas Salomão; de Andrade, Saulo Henrique; Lemos, Maurilo de Mello; Pignatari, Shirley Shizue Nagata

    2015-01-01

    OBJECTIVE: The aim of this study was to compare the cephalometric pattern of children with and without adenoid obstruction. METHODS: The sample comprised 100 children aged between four and 14 years old, both males and females, subjected to cephalometric examination for sagittal and vertical skeletal analysis. The sample also underwent nasofiberendoscopic examination intended to objectively assess the degree of adenoid obstruction. RESULTS: The individuals presented tendencies towards vertical craniofacial growth, convex profile and mandibular retrusion. However, there were no differences between obstructive and non-obstructive patients concerning all cephalometric variables. Correlations between skeletal parameters and the percentage of adenoid obstruction were either low or not significant. CONCLUSIONS: Results suggest that specific craniofacial patterns, such as Class II and hyperdivergency, might not be associated with adenoid hypertrophy. PMID:26352848

  4. Mutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathies

    PubMed Central

    Ashe, Alyson; Butterfield, Natalie C.; Town, Liam; Courtney, Andrew D.; Cooper, Ashley N.; Ferguson, Charles; Barry, Rachael; Olsson, Fredrik; Liem, Karel F.; Parton, Robert G.; Wainwright, Brandon J.; Anderson, Kathryn V.; Whitelaw, Emma; Wicking, Carol

    2012-01-01

    Mutations in components of the intraflagellar transport (IFT) machinery required for assembly and function of the primary cilium cause a subset of human ciliopathies characterized primarily by skeletal dysplasia. Recently, mutations in the IFT-A gene IFT144 have been described in patients with Sensenbrenner and Jeune syndromes, which are associated with short ribs and limbs, polydactyly and craniofacial defects. Here, we describe an N-ethyl-N-nitrosourea-derived mouse mutant with a hypomorphic missense mutation in the Ift144 gene. The mutant twinkle-toes (Ift144twt) phenocopies a number of the skeletal and craniofacial anomalies seen in patients with human skeletal ciliopathies. Like other IFT-A mouse mutants, Ift144 mutant embryos display a generalized ligand-independent expansion of hedgehog (Hh) signalling, in spite of defective ciliogenesis and an attenuation of the ability of mutant cells to respond to upstream stimulation of the pathway. This enhanced Hh signalling is consistent with cleft palate and polydactyly phenotypes in the Ift144twt mutant, although extensive rib branching, fusion and truncation phenotypes correlate with defects in early somite patterning and may reflect contributions from multiple signalling pathways. Analysis of embryos harbouring a second allele of Ift144 which represents a functional null, revealed a dose-dependent effect on limb outgrowth consistent with the short-limb phenotypes characteristic of these ciliopathies. This allelic series of mouse mutants provides a unique opportunity to uncover the underlying mechanistic basis of this intriguing subset of ciliopathies. PMID:22228095

  5. Sagittal and Vertical Craniofacial Growth Pattern and Timing of Circumpubertal Skeletal Maturation: A Multiple Regression Study

    PubMed Central

    Rosso, Luigi; Riatti, Riccardo

    2016-01-01

    The knowledge of the associations between the timing of skeletal maturation and craniofacial growth is of primary importance when planning a functional treatment for most of the skeletal malocclusions. This cross-sectional study was thus aimed at evaluating whether sagittal and vertical craniofacial growth has an association with the timing of circumpubertal skeletal maturation. A total of 320 subjects (160 females and 160 males) were included in the study (mean age, 12.3 ± 1.7 years; range, 7.6–16.7 years). These subjects were equally distributed in the circumpubertal cervical vertebral maturation (CVM) stages 2 to 5. Each CVM stage group also had equal number of females and males. Multiple regression models were run for each CVM stage group to assess the significance of the association of cephalometric parameters (ANB, SN/MP, and NSBa angles) with age of attainment of the corresponding CVM stage (in months). Significant associations were seen only for stage 3, where the SN/MP angle was negatively associated with age (β coefficient, −0.7). These results show that hyperdivergent and hypodivergent subjects may have an anticipated and delayed attainment of the pubertal CVM stage 3, respectively. However, such association remains of little entity and it would become clinically relevant only in extreme cases. PMID:27995136

  6. An eye on the head: the development and evolution of craniofacial muscles.

    PubMed

    Sambasivan, Ramkumar; Kuratani, Shigeru; Tajbakhsh, Shahragim

    2011-06-01

    Skeletal muscles exert diverse functions, enabling both crushing with great force and movement with exquisite precision. A remarkably distinct repertoire of genes and ontological features characterise this tissue, and recent evidence has shown that skeletal muscles of the head, the craniofacial muscles, are evolutionarily, morphologically and molecularly distinct from those of the trunk. Here, we review the molecular basis of craniofacial muscle development and discuss how this process is different to trunk and limb muscle development. Through evolutionary comparisons of primitive chordates (such as amphioxus) and jawless vertebrates (such as lampreys) with jawed vertebrates, we also provide some clues as to how this dichotomy arose.

  7. Skeletal dysplasia with craniofacial deformity and disproportionate dwarfism in hair sheep of northeastern Brazil.

    PubMed

    Dantas, F P M; Medeiros, G X; Figueiredo, A P M; Thompson, K; Riet-Correa, F

    2014-01-01

    This paper reports a newly described form of skeletal dysplasia affecting Brazilian hair sheep of the Cabugi breed. This breed is characterized by having a short head and in some cases the animals are smaller and more compact than sheep of similar breeds. Lambs born with craniofacial abnormalities and dwarfism that die at 2-6 months of age are frequent in this breed. In a flock of 68 ewes and three rams of the Cabugi breed, 134 lambs were born over a 4-year period. Of these, 14 (10.4%) had marked cranial abnormalities and dwarfism and died or were humanely destroyed, 43 (32%) had a normal face and 77 (57.5%) had the short face characteristic of the breed. Dwarf lambs were much smaller than normal, with short legs, a domed head with retruded muzzle and protruded mandible, sternal deformities and exophthalmic eyes situated more laterally in the face than normal. Microscopical examination of long bones of the limbs, bones of the base of the skull and vertebrae showed no lesions. Bones from four affected lambs and one control lamb were macerated for morphometric examination. Although the length of the spinal cord was similar, there was disproportionate shortening of the appendicular bones, particularly the distal segments. Thus the disease was defined as a skeletal dysplasia characterized by craniofacial deformity and disproportionate dwarfism. It is suggested that the disease is inherited as an incomplete dominant trait. The shortened face, which is a feature of the Cabugi breed, may represent the heterozygous state and the more severe, often lethal, dwarfism may occur in homozygotes.

  8. 30-year International Pediatric Craniofacial Surgery Partnership: Evolution from the “Third World” Forward

    PubMed Central

    Swanson, Jordan W.; Skirpan, Jan; Stanek, Beata; Kowalczyk, Maciej

    2016-01-01

    Background: Craniofacial diseases constitute an important component of the surgical disease burden in low- and middle-income countries. The consideration to introduce craniofacial surgery into such settings poses different questions, risks, and challenges compared with cleft or other forms of plastic surgery. We report the evolution, innovations, and challenges of a 30-year international craniofacial surgery partnership. Methods: We retrospectively report a partnership between surgeons at the Uniwersytecki Szpital Dzieciecy in Krakow, Poland, and a North American craniofacial surgeon. We studied patient conditions, treatment patterns, and associated complications, as well as program advancements and limitations as perceived by surgeons, patient families, and hospital administrators. Results: Since partnership inception in 1986, the complexity of cases performed increased gradually, with the first intracranial case performed in 1995. In the most recent 10-year period (2006–2015), 85 patients have been evaluated, with most common diagnoses of Apert syndrome, Crouzon syndrome, and single-suture craniosynostosis. In the same period, 55 major surgical procedures have been undertaken, with LeFort III midface distraction, posterior vault distraction, and frontoorbital advancement performed most frequently. Key innovations have been the employment of craniofacial distraction osteogenesis, the use of Internet communication and digital photography, and increased understanding of how craniofacial morphology may improve in the absence of surgical intervention. Ongoing challenges include prohibitive training pathways for pediatric plastic surgeons, difficulty in coordinating care with surgeons in other institutions, and limited medical and material resources. Conclusion: Safe craniofacial surgery can be introduced and sustained in a resource-limited setting through an international partnership. PMID:27200233

  9. Mental retardation, short stature, minor skeletal anomalies, craniofacial dysmorphism and macrodontia in two sisters and their mother. Another variant example of the KBG syndrome?

    PubMed

    Fryns, J P; Haspeslagh, M

    1984-07-01

    Mental retardation associated with short stature, craniofacial dysmorphism, macrodontia and minor skeletal anomalies is reported in two sisters and their mother. The similarity with and the relationship to the KBG syndrome is discussed and the importance of clinical syndrome identification in familial mental retardation is emphasised.

  10. 4D-computerized visualisation of human craniofacial skeletal growth and of the development of the dentition.

    PubMed

    Radlanski, R J; van der Linden, F P; Ohnesorge, I

    1999-01-01

    The understanding of growth and developmental changes can be improved when shapes and changes in size, proportion, and relationships are visualized in 3 dimensions and at different stages. This applies particularly to craniofacial skeletal growth and the development of the dentition. For that purpose 3D-data were collected from prenatal human heads ranging from 18 up to 275 mm CRL and from a collection of macerated fetal and postnatal skulls. Computer-aided graphical reconstructions were obtained from histological serial sections of embryonic and early fetal specimens. Proportional changes in the growing skull were recorded by means of radiological and cephalometric evaluation. In addition, computed tomography was applied to fetal and postnatal skulls. Furthermore, the prenatal and postnatal development of the dentition was digitized. To that end 3D-polygone sets of these data were read into a workstation computer and animated by means of the software Soft Image (Microsoft). This comprehensive 4D insight into growth facilitates the understanding and teaching of normal and abnormal development.

  11. Skeletal and cranio-facial signs in Gorlin syndrome from ancient Egypt to the modern age: sphenoid asymmetry in a patient with a novel PTCH1 mutation.

    PubMed

    Ponti, Giovanni; Ruini, Cristel; Pastorino, Lorenza; Loschi, Pietro; Pecchi, Annarita; Malagoli, Marcella; Mandel, Victor Desmond; Boano, Rosa; Conti, Andrea; Pellacani, Giovanni; Tomasi, Aldo

    2014-05-01

    Gorlin syndrome is an autosomal dominant disorder linked to PTCH1 mutation, identified by a collection of clinical and radiologic signs. We describe the case of a family in which father and son fulfilled clear cut diagnostic criteria for Gorlin syndrome including multiple basal cell carcinomas, keratocystic odontogenic tumors, atypical skeletal anomalies and a novel PTCH1 germline mutation (c.1041delAA). Craniofacial and other skeletal anomalies displayed at 3D and helical CT scan were: macrocephaly, positional plagiocephaly, skull base and sphenoid asymmetry, bifidity of multiple ribs and giant multilocular odontogenic jaw cysts. Extensive multilamellar calcifications were found in falx cerebri, tentorium, falx cerebelli and in the atlanto-occipital ligament. The inclusion of bifid ribs as a novel major criteri may be useful for the recognition and characterization of misdiagnosed cases.

  12. Craniofacial modularity, character analysis, and the evolution of the premaxilla in early African hominins.

    PubMed

    Villmoare, Brian A; Dunmore, Christopher; Kilpatrick, Shaun; Oertelt, Nadja; Depew, Michael J; Fish, Jennifer L

    2014-12-01

    Phylogenetic analyses require evolutionarily independent characters, but there is no consensus, nor has there been a clear methodology presented on how to define character independence in a phylogenetic context, particularly within a complex morphological structure such as the skull. Following from studies of craniofacial development, we hypothesize that the premaxilla is an independent evolutionary module with two integrated characters that have traditionally been treated as independent. We test this hypothesis on a large sample of primate skulls and find evidence supporting the premaxilla as an independent module within the larger module of the palate. Additionally, our data indicate that the convexity of the nasoalveolar clivus and the contour of the alveolus are integrated within the premaxilla. We show that the palate itself is composed of two distinct modules: the FNP-derived premaxillae and the mxBA1-derived maxillae and palatines. Application of our data to early African hominin facial morphology suggests that at least three separate transitions contributed to robust facial morphology: 1) an increase in the size of the post-canine dentition housed within the maxillae and palatines, 2) modification of the premaxilla generating a concave clivus and reduced incisor alveolus, and 3) modification of the zygomatic, shifting the zygomatic root and lateral face anteriorly. These data lend support to the monophyly of Paranthropus boisei and Paranthropus robustus, and provide mounting evidence in favor of a Paranthropus clade. This study also highlights the utility of applying developmental evidence to studies of morphological evolution.

  13. Development and evolution of craniofacial patterning is mediated by eye-dependent and -independent processes in the cavefish Astyanax.

    PubMed

    Yamamoto, Yoshiyuki; Espinasa, Luis; Stock, David W; Jeffery, William R

    2003-01-01

    We studied the development and evolution of craniofacial features in the teleost fish, Astyanax mexicanus. This species has an eyed surface dwelling form (surface fish) and many different cave dwelling forms (cavefish) with various degrees of reduced eyes and pigmentation. The craniofacial features we examined are the tooth-bearing maxillary bones, the nasal and antorbital bones, the circumorbital bones, and the opercular bones, all of which show evolutionary modifications in different cavefish populations. Manipulations of eye formation by transplantation of the embryonic lens, by lentectomy, or by removing the optic vesicle showed that eye-dependent and -independent processes change both the surface fish and cavefish craniofacial skeletons. The size of the olfactory pits, which the nasal and antorbital bones define, and the size and positioning of the circumorbital bones were found to correlate with eye development. For the six suborbital bones (SO1-6), the relationship with the developing eye appears to be due to ossification initiated from foci in the suborbital canal of cranial neuromasts, whose patterning is also highly correlated with the presence or absence of an eye. By contrast, we found that the number of maxillary teeth, the number of SO3 bone elements, the positioning of SO4-6 with respect to the opercular bone, and the shape of the opercular bone are not dependent on eye formation and vary among different cavefish populations. The results suggest that evolution of the cavefish craniofacial skeleton is controlled by multiple developmental events, some a direct consequence of eye degeneration and others unrelated to loss of the eye.

  14. Craniofacial Microsomia

    PubMed Central

    Birgfeld, Craig B.; Heike, Carrie

    2012-01-01

    Craniofacial microsomia (CFM) is one of the most common congenital conditions treated in craniofacial centers worldwide. This condition is variably associated with anomalies of the jaws, ears, facial soft tissue, orbits, and facial nerve function and can be associated with extracranial anomalies. The cause of this condition is unknown, though CFM has been associated withprenatalexposures and genetic abnormalities. Diagnosis, treatment, and outcome assessment in CFM is challenging due to the wide phenotypic spectrum observed in this condition. Surgical treatment requires a coordinated team approach involving multiple specialties, which can include plastic surgery, craniofacial surgery, orthognathic surgery, and microsurgery. A wide variety of surgical options exist, and individual treatment plans should be based on the patient's needs. Although CFM can be challenging to treat, successful outcomes are rewarding. We provide a review of the common craniofacial surgical treatments for individuals with CFM. PMID:23633936

  15. Evolution of design considerations in complex craniofacial reconstruction using patient-specific implants.

    PubMed

    Peel, Sean; Bhatia, Satyajeet; Eggbeer, Dominic; Morris, Daniel S; Hayhurst, Caroline

    2016-12-01

    Previously published evidence has established major clinical benefits from using computer-aided design, computer-aided manufacturing, and additive manufacturing to produce patient-specific devices. These include cutting guides, drilling guides, positioning guides, and implants. However, custom devices produced using these methods are still not in routine use, particularly by the UK National Health Service. Oft-cited reasons for this slow uptake include the following: a higher up-front cost than conventionally fabricated devices, material-choice uncertainty, and a lack of long-term follow-up due to their relatively recent introduction. This article identifies a further gap in current knowledge - that of design rules, or key specification considerations for complex computer-aided design/computer-aided manufacturing/additive manufacturing devices. This research begins to address the gap by combining a detailed review of the literature with first-hand experience of interdisciplinary collaboration on five craniofacial patient case studies. In each patient case, bony lesions in the orbito-temporal region were segmented, excised, and reconstructed in the virtual environment. Three cases translated these digital plans into theatre via polymer surgical guides. Four cases utilised additive manufacturing to fabricate titanium implants. One implant was machined from polyether ether ketone. From the literature, articles with relevant abstracts were analysed to extract design considerations. In all, 19 frequently recurring design considerations were extracted from previous publications. Nine new design considerations were extracted from the case studies - on the basis of subjective clinical evaluation. These were synthesised to produce a design considerations framework to assist clinicians with prescribing and design engineers with modelling. Promising avenues for further research are proposed.

  16. Craniofacial surgery: present and future.

    PubMed Central

    Whitaker, L A; Schut, L; Randall, P

    1976-01-01

    The possibilities for radical craniofacial restructuring have increased dramatically in the past 6 years with the development of craniofacial surgery. The field developed from a background of patients with major craniofacial birth defects allowing orderly planning and expansion to correction of a multitude of other craniofacial structural problems. The procedures concentrate upon changing the skeletal structures using extensive subperiostial dissection of soft tissue, and adding bone to fill in areas of deficiency. There are three grades of complexity in craniofacial procedures. After extensive soft tissue sub-periostial stripping about the orbits and upper face, the simplest form consists of onlay bone grafts. The next most complicated involves osteotomies to shift the face into a more normal position. In its most complicated form, abnormal proportions of bone are removed and the orbits or cranium are shifted into a new or normal position. We have had experience with 69 patients since September, 1972. Thirty-six have had intracranial procedures. Infection has been the most serious problem, and there have been no instances of death or blindness. A number of lesser problems occur. Future applications of craniofacial surgery are appearing with great frequency as more experience is gained with its uses. It has particular application in acute and late reconstruction of patients with traumatic defects about the face. Preventive osteotomies are an area with great potential, by releasing stenotic areas of bone and allowing the developing brain to mold the upper face and orbits. There is also applicability in surgery of tumors about the craniofacial structure and in cosmetic surgery. Images Fig. 1a. Fig. 1b. Fig. 1c. Fig. 1d. Fig. 1e. Fig. 2a. Fig. 2b. Fig. 2c. PMID:984925

  17. Genetics of Skeletal Evolution in Unusually Large Mice from Gough Island.

    PubMed

    Parmenter, Michelle D; Gray, Melissa M; Hogan, Caley A; Ford, Irene N; Broman, Karl W; Vinyard, Christopher J; Payseur, Bret A

    2016-12-01

    Organisms on islands often undergo rapid morphological evolution, providing a platform for understanding mechanisms of phenotypic change. Many examples of evolution on islands involve the vertebrate skeleton. Although the genetic basis of skeletal variation has been studied in laboratory strains, especially in the house mouse Mus musculus domesticus, the genetic determinants of skeletal evolution in natural populations remain poorly understood. We used house mice living on the remote Gough Island-the largest wild house mice on record-to understand the genetics of rapid skeletal evolution in nature. Compared to a mainland reference strain from the same subspecies (WSB/EiJ), the skeleton of Gough Island mice is considerably larger, with notable expansions of the pelvis and limbs. The Gough Island mouse skeleton also displays changes in shape, including elongations of the skull and the proximal vs. distal elements in the limbs. Quantitative trait locus (QTL) mapping in a large F2 intercross between Gough Island mice and WSB/EiJ reveals hundreds of QTL that control skeletal dimensions measured at 5, 10, and/or 16 weeks of age. QTL exhibit modest, mostly additive effects, and Gough Island alleles are associated with larger skeletal size at most QTL. The QTL with the largest effects are found on a few chromosomes and affect suites of skeletal traits. Many of these loci also colocalize with QTL for body weight. The high degree of QTL colocalization is consistent with an important contribution of pleiotropy to skeletal evolution. Our results provide a rare portrait of the genetic basis of skeletal evolution in an island population and position the Gough Island mouse as a model system for understanding mechanisms of rapid evolution in nature.

  18. Evolution of craniofacial novelty in parrots through developmental modularity and heterochrony.

    PubMed

    Tokita, Masayoshi; Kiyoshi, Takuya; Armstrong, Kyle N

    2007-01-01

    Parrots (order Psittaciformes) have developed novel cranial morphology. At the same time, they show considerable morphological diversity in the cranial musculoskeletal system, which includes two novel structures: the suborbital arch and the musculus (M.) pseudomasseter. To understand comprehensively the evolutionary pattern and process of novel cranial morphology in parrots, phylogenetic and developmental studies were conducted. Firstly, we undertook phylogenetic analyses based on mitochondrial ribosomal RNA gene sequences to obtain a robust phylogeny among parrots, and secondly we surveyed the cranial morphology of parrots extensively to add new information on the character states. Character mapping onto molecular phylogenies indicated strongly the repeated evolution of both the suborbital arch and the well-developed M. pseudomasseter within parrots. These results also suggested that the direction of evolutionary change is not always identical in the two characters, implying that these characters are relatively independent or decoupled structures behaving as separate modules. Finally, we compared the developmental pattern of jaw muscles among bird species and found a difference in the timing of M. pseudomasseter differentiation between the cockatiel Nymphicus hollandicus (representative of a well-developed condition) and the peach-faced lovebird Agapornis roseicollis (representative of an underdeveloped condition). On the basis of this study, we suggest that in the development of novel traits, modularity and heterochrony facilitate the diversification of parrot cranial morphology.

  19. Distraction of skeletal muscle: evolution of a rat model.

    PubMed

    Green, Stuart A; Horton, Eric; Baker, Michael; Utkan, Ali; Caiozzo, Vincent

    2002-10-01

    To better study the effects of limb lengthening on skeletal muscle, the authors developed a rat model that uses a miniature external skeletal fixator applied to the tibia of an adult Sprague-Dawley rat. The mounting and lengthening protocols follow the principles developed by Ilizarov. With the initial version of the fixator, the rats had progressive equinus contractures develop because the calf muscles resisted elongation. By incorporating a footplate in the distraction apparatus, tibial lengthening can be achieved without concomitant equinus.

  20. [Craniofacial fibrous dysplasia].

    PubMed

    Couturier, A; Aumaître, O; Mom, T; Gilain, L; André, M

    2016-12-01

    Fibrous dysplasia of bone is a benign, uncommon, sporadic, congenital skeletal disorder resulting in deformity. This disease arises from activating somatic mutation in GNAS which encodes the α subunit of the G stimulatory protein associated with proliferation of undifferentiated osteogenic cells resulting in marrow fibrosis, abnormal matrix production, and stimulation of osteoclastic resorption upon overproduction of IL-6 observed in dysplastic cells. Fibrous dysplasia may be monostotic or polyostotic. This mutation affecting many tissues, café au lait skin macules and endocrinopathies (precocious puberty, hyperthyroidism, growth hormone excess, Cushing syndrome) may be associated in McCune-Albright syndrome, but also myxoma in Mazabraud syndrome or phosphate diabetes. Diagnosis of craniofacial fibrous dysplasia should be considered in the presence of headache, neuralgia, sensory disorders (vision, hearing, balance, smelling), functional disorders (nasal obstruction, nasolacrimal duct obstruction, non-matching occlusion), infectious complications (sinusitis, otitis, mastoiditis). Such symptoms should lead to perform craniofacial CT scan completed with MRI. Bone biopsy is not systematic. Surgical treatment is discussed in cases of nervous complication, facial deformity or active lesions. In case of pain resistant to conventional analgesics, intravenous bisphosphonates can be proposed. In non-responder patients, several case reports suggest the efficacy of a monoclonal antibody directed against the IL-6 receptor which requires to be confirmed by randomized studies.

  1. [Craniofacial neuralgias].

    PubMed

    Mikula, Ivan

    2008-05-01

    Craniofacial neuralgias are characterized by sudden paroxysmal pain along the distribution of one or more of the cranial or upper cervical spinal nerves. The most significant neuralgia of the craniofacial region is trigeminal neuralgia, while geniculate neuralgia, glossopharyngeal neuralgia and occipital neuralgia are less common. Trigeminal neuralgia may be primary or secondary. Idiopathic trigeminal neuralgia or tic douloureux has been recognized for centuries as an extremely painful disorder most commonly involving the maxillary nerve. Recurrent lancinating, shocklike unilateral pain lasting for seconds to minutes is provoked by non noxious stimulation of the skin at specific sites around the face and less frequently by movement of the tongue. The trigger zones are usually within the same dermatome as the painful sensation. After each episode, there is usually a refractive period during which stimulation of the trigger zone will not induce pain. Idiopathic trigeminal neuralgia occurs somewhat more frequently in women and usually begins in individuals 50 to 70 years of age. There is no pain between attacks, and the frequency of painful episodes can range from several per day to only a few per year. With time, the features may become more atypical, with greater areas of more enduring and dull pain and occasionally bilateral pain, rarely on both sides simultaneously. No sensory or reflex deficit is detectable by routine neurologic testing. Diagnostic local anesthetic blocks will identify the specific nerves involved and the trigger point distribution. Neurologic and neuroradiologic examination is advised in all cases to rule out diseases such as intracranical tumors, vascular malformations or multiple sclerosis.

  2. RSK2 Is a Modulator of Craniofacial Development

    PubMed Central

    Laugel-Haushalter, Virginie; Paschaki, Marie; Marangoni, Pauline; Pilgram, Coralie; Langer, Arnaud; Kuntz, Thibaut; Demassue, Julie; Morkmued, Supawich; Choquet, Philippe; Constantinesco, André; Bornert, Fabien; Schmittbuhl, Matthieu; Pannetier, Solange; Viriot, Laurent; Hanauer, André; Dollé, Pascal; Bloch-Zupan, Agnès

    2014-01-01

    Background The RSK2 gene is responsible for Coffin-Lowry syndrome, an X-linked dominant genetic disorder causing mental retardation, skeletal growth delays, with craniofacial and digital abnormalities typically associated with this syndrome. Craniofacial and dental anomalies encountered in this rare disease have been poorly characterized. Methodology/Principal Findings We examined, using X-Ray microtomographic analysis, the variable craniofacial dysmorphism and dental anomalies present in Rsk2 knockout mice, a model of Coffin-Lowry syndrome, as well as in triple Rsk1,2,3 knockout mutants. We report Rsk mutation produces surpernumerary teeth midline/mesial to the first molar. This highly penetrant phenotype recapitulates more ancestral tooth structures lost with evolution. Most likely this leads to a reduction of the maxillary diastema. Abnormalities of molar shape were generally restricted to the mesial part of both upper and lower first molars (M1). Expression analysis of the four Rsk genes (Rsk1, 2, 3 and 4) was performed at various stages of odontogenesis in wild-type (WT) mice. Rsk2 is expressed in the mesenchymal, neural crest-derived compartment, correlating with proliferative areas of the developing teeth. This is consistent with RSK2 functioning in cell cycle control and growth regulation, functions potentially responsible for severe dental phenotypes. To uncover molecular pathways involved in the etiology of these defects, we performed a comparative transcriptomic (DNA microarray) analysis of mandibular wild-type versus Rsk2-/Y molars. We further demonstrated a misregulation of several critical genes, using a Rsk2 shRNA knock-down strategy in molar tooth germs cultured in vitro. Conclusions This study reveals RSK2 regulates craniofacial development including tooth development and patterning via novel transcriptional targets. PMID:24416220

  3. Modular Skeletal Evolution in Sticklebacks Is Controlled by Additive and Clustered Quantitative Trait Loci

    PubMed Central

    Miller, Craig T.; Glazer, Andrew M.; Summers, Brian R.; Blackman, Benjamin K.; Norman, Andrew R.; Shapiro, Michael D.; Cole, Bonnie L.; Peichel, Catherine L.; Schluter, Dolph; Kingsley, David M.

    2014-01-01

    Understanding the genetic architecture of evolutionary change remains a long-standing goal in biology. In vertebrates, skeletal evolution has contributed greatly to adaptation in body form and function in response to changing ecological variables like diet and predation. Here we use genome-wide linkage mapping in threespine stickleback fish to investigate the genetic architecture of evolved changes in many armor and trophic traits. We identify >100 quantitative trait loci (QTL) controlling the pattern of serially repeating skeletal elements, including gill rakers, teeth, branchial bones, jaws, median fin spines, and vertebrae. We use this large collection of QTL to address long-standing questions about the anatomical specificity, genetic dominance, and genomic clustering of loci controlling skeletal differences in evolving populations. We find that most QTL (76%) that influence serially repeating skeletal elements have anatomically regional effects. In addition, most QTL (71%) have at least partially additive effects, regardless of whether the QTL controls evolved loss or gain of skeletal elements. Finally, many QTL with high LOD scores cluster on chromosomes 4, 20, and 21. These results identify a modular system that can control highly specific aspects of skeletal form. Because of the general additivity and genomic clustering of major QTL, concerted changes in both protective armor and trophic traits may occur when sticklebacks inherit either marine or freshwater alleles at linked or possible “supergene” regions of the stickleback genome. Further study of these regions will help identify the molecular basis of both modular and coordinated changes in the vertebrate skeleton. PMID:24652999

  4. In vivo bone strain and finite-element modeling of the craniofacial haft in catarrhine primates

    PubMed Central

    Ross, Callum F; Berthaume, Michael A; Dechow, Paul C; Iriarte-Diaz, Jose; Porro, Laura B; Richmond, Brian G; Spencer, Mark; Strait, David

    2011-01-01

    Hypotheses regarding patterns of stress, strain and deformation in the craniofacial skeleton are central to adaptive explanations for the evolution of primate craniofacial form. The complexity of craniofacial skeletal morphology makes it difficult to evaluate these hypotheses with in vivo bone strain data. In this paper, new in vivo bone strain data from the intraorbital surfaces of the supraorbital torus, postorbital bar and postorbital septum, the anterior surface of the postorbital bar, and the anterior root of the zygoma are combined with published data from the supraorbital region and zygomatic arch to evaluate the validity of a finite-element model (FEM) of a macaque cranium during mastication. The behavior of this model is then used to test hypotheses regarding the overall deformation regime in the craniofacial haft of macaques. This FEM constitutes a hypothesis regarding deformation of the facial skeleton during mastication. A simplified verbal description of the deformation regime in the macaque FEM is as follows. Inferior bending and twisting of the zygomatic arches about a rostrocaudal axis exerts inferolaterally directed tensile forces on the lateral orbital wall, bending the wall and the supraorbital torus in frontal planes and bending and shearing the infraorbital region and anterior zygoma root in frontal planes. Similar deformation regimes also characterize the crania of Homo and Gorilla under in vitro loading conditions and may be shared among extant catarrhines. Relatively high strain magnitudes in the anterior root of the zygoma suggest that the morphology of this region may be important for resisting forces generated during feeding. PMID:21105871

  5. Growth Hormone and Craniofacial Tissues. An update

    PubMed Central

    Litsas, George

    2015-01-01

    Growth hormone is an important regulator of bone homeostasis. In childhood, it determines the longitudinal bone growth, skeletal maturation, and acquisition of bone mass. In adulthood, it is necessary to maintain bone mass throughout life. Although an association between craniofacial and somatic development has been clearly established, craniofacial growth involves complex interactions of genes, hormones and environment. Moreover, as an anabolic hormone seems to have an important role in the regulation of bone remodeling, muscle enhancement and tooth development. In this paper the influence of growth hormone on oral tissues is reviewed. PMID:25674165

  6. Skeletal ossification and sequence heterochrony in xenarthran evolution.

    PubMed

    Hautier, Lionel; Weisbecker, Vera; Goswami, Anjali; Knight, Frank; Kardjilov, Nikolay; Asher, Robert J

    2011-01-01

    Previous analyses of how mammals vary in their ossification sequences have focused on monotremes, marsupials, and boreoeutherian placentals. Here, we focus on the sequence of cranial and postcranial ossification events during growth in the xenarthran skull and skeleton, including armadillos, anteaters, and sloths. We use two different methods to quantify sequence heterochrony: sequence analysis of variance (ANOVA) and event-paring/Parsimov. Our results indicate that Parsimov is conservative and does not detect clear heterochronic shifts between xenarthran and boreoeutherian placentals. Sequence-ANOVA performs better, but both methods exhibit sensitivity to the artifactual accumulation of ties. By controlling for ties and taking into account results that the methods have in common, our analysis suggests that xenarthrans significantly differ from other placentals by a late ossification of the sternum and an early ossification of the phalanges and pubis. We interpret these differences as showing that heterochrony plays a role in the skeletal development of xenarthrans, a change from previous studies that have emphasized the developmental homogeneity of the skeleton across placental mammals.

  7. Skeletal muscle mass and quality: evolution of modern measurement concepts in the context of sarcopenia.

    PubMed

    Heymsfield, Steven B; Gonzalez, M Cristina; Lu, Jianhua; Jia, Guang; Zheng, Jolene

    2015-11-01

    The first reports of accurate skeletal muscle mass measurement in human subjects appeared at about the same time as introduction of the sarcopenia concept in the late 1980s. Since then these methods, computed tomography and MRI, have been used to gain insights into older (i.e. anthropometry and urinary markers) and more recently developed and refined methods (ultrasound, bioimpedance analysis and dual-energy X-ray absorptiometry) of quantifying regional and total body skeletal muscle mass. The objective of this review is to describe the evolution of these methods and their continued development in the context of sarcopenia evaluation and treatment. Advances in these technologies are described with a focus on additional quantifiable measures that relate to muscle composition and 'quality'. The integration of these collective evaluations with strength and physical performance indices is highlighted with linkages to evaluation of sarcopenia and the spectrum of related disorders such as sarcopenic obesity, cachexia and frailty. Our findings show that currently available methods and those in development are capable of non-invasively extending measures from solely 'mass' to quality evaluations that promise to close the gaps now recognised between skeletal muscle mass and muscle function, morbidity and mortality. As the largest tissue compartment in most adults, skeletal muscle mass and aspects of muscle composition can now be evaluated by a wide array of technologies that provide important new research and clinical opportunities aligned with the growing interest in the spectrum of conditions associated with sarcopenia.

  8. Core issues in craniofacial myogenesis

    SciTech Connect

    Kelly, Robert G.

    2010-11-01

    Branchiomeric craniofacial muscles control feeding, breathing and facial expression. These muscles differ on multiple counts from all other skeletal muscles and originate in a progenitor cell population in pharyngeal mesoderm characterized by a common genetic program with an adjacent population of cardiac progenitor cells, the second heart field, that gives rise to much of the heart. The transcription factors and signaling molecules that trigger the myogenic program at sites of branchiomeric muscle formation are correspondingly distinct from those in somite-derived muscle progenitor cells. Here new insights into the regulatory hierarchies controlling branchiomeric myogenesis are discussed. Differences in embryological origin are reflected in the lineage, transcriptional program and proliferative and differentiation properties of branchiomeric muscle satellite cells. These recent findings have important implications for our understanding of the diverse myogenic strategies operative both in the embryo and adult and are of direct biomedical relevance to deciphering the mechanisms underlying the cause and progression of muscle restricted myopathies.

  9. Evolution of a ureteric stone from the renal pelvis to the ureter on skeletal scintigraphy with CT correlation.

    PubMed

    Gupta, Pushpender; Kota, Gopi; Mintz, Akiva

    2012-02-01

    Because bone-seeking radiopharmaceuticals are excreted into the urine by the kidneys, normal kidneys and bladder are well visualized on skeletal scintigrams leading to incidental detection of urinary tract abnormalities in up to 15% of bone scans. Although the findings pertaining to the urinary tract on skeletal scintigraphy are seldom suggestive of a definitive diagnosis, they are highly specific for renal disease, with fewer than 2% false-positive studies reported. In the presented case, we demonstrate the evolution of a ureteric stone from the renal pelvis into the ureter on sequential skeletal scintigraphy with CT correlation.

  10. The extracellular matrix of muscle--implications for manipulation of the craniofacial musculature.

    PubMed

    Lewis, M P; Machell, J R; Hunt, N P; Sinanan, A C; Tippett, H L

    2001-08-01

    Successful adaptation of craniofacial skeletal muscle is dependent upon the connective tissue component of the muscle. This is exemplified by procedures such as distraction histo/osteogenesis. The mechanisms underlying remodelling of intramuscular connective tissue are complex and multifactorial and involve extracellular matrix (ECM) molecules, receptors for the ECM (integrins) and enzymes that remodel the ECM (MMPs). This review discusses the current state of knowledge and clinical implications of connective tissue biology as applied to craniofacial skeletal muscle.

  11. Craniofacial bone tissue engineering.

    PubMed

    Wan, Derrick C; Nacamuli, Randall P; Longaker, Michael T

    2006-04-01

    Repair and reconstruction of the craniofacial skeleton represents a significant biomedical burden, with thousands of procedures per-formed annually secondary to injuries and congenital malformations. Given the multitude of current approaches, the need for more effective strategies to repair these bone deficits is apparent. This article explores two major modalities for craniofacial bone tissue engineering: distraction osteogenesis and cellular based therapies. Current understanding of the guiding principles for each of these modalities is elaborated on along with the knowledge gained from clinical and investigative studies. By laying this foundation, future directions for craniofacial distraction and cell-based bone engineering have emerged with great promise for the advancement of clinical practice.

  12. Evolution of the new vertebrate head by co-option of an ancient chordate skeletal tissue.

    PubMed

    Jandzik, David; Garnett, Aaron T; Square, Tyler A; Cattell, Maria V; Yu, Jr-Kai; Medeiros, Daniel M

    2015-02-26

    A defining feature of vertebrates (craniates) is a pronounced head that is supported and protected by a robust cellular endoskeleton. In the first vertebrates, this skeleton probably consisted of collagenous cellular cartilage, which forms the embryonic skeleton of all vertebrates and the adult skeleton of modern jawless and cartilaginous fish. In the head, most cellular cartilage is derived from a migratory cell population called the neural crest, which arises from the edges of the central nervous system. Because collagenous cellular cartilage and neural crest cells have not been described in invertebrates, the appearance of cellular cartilage derived from neural crest cells is considered a turning point in vertebrate evolution. Here we show that a tissue with many of the defining features of vertebrate cellular cartilage transiently forms in the larvae of the invertebrate chordate Branchiostoma floridae (Florida amphioxus). We also present evidence that during evolution, a key regulator of vertebrate cartilage development, SoxE, gained new cis-regulatory sequences that subsequently directed its novel expression in neural crest cells. Together, these results suggest that the origin of the vertebrate head skeleton did not depend on the evolution of a new skeletal tissue, as is commonly thought, but on the spread of this tissue throughout the head. We further propose that the evolution of cis-regulatory elements near an ancient regulator of cartilage differentiation was a major factor in the evolution of the vertebrate head skeleton.

  13. Craniofacial reconstruction - series (image)

    MedlinePlus

    Patients requiring craniofacial reconstruction have: birth defects (such as hypertelorism, Crouzon's disease, Apert's syndrome) injuries to the head, face, or jaws (maxillofacial) tumors deformities caused by treatments of tumors

  14. Craniofacial morphogenesis workshop report.

    PubMed

    Solursh, M; Murray, J

    1994-05-01

    The following report highlights the discussions and interaction at the workshop on craniofacial morphogenesis, sponsored by The Human Frontier Science Program, held in April 1993 at the University of Iowa. A brief summary of selected sessions is included to exemplify the benefits of bringing together individuals from various disciplines and backgrounds in order to establish a unified theory of craniofacial morphogenesis. The synthesis of information and experience of a wide range of approaches made the 4-day period an invaluable experience for the participants from nine different countries.

  15. A gene expression map of the larval Xenopus laevis head reveals developmental changes underlying the evolution of new skeletal elements.

    PubMed

    Square, Tyler; Jandzik, David; Cattell, Maria; Coe, Alex; Doherty, Jacob; Medeiros, Daniel Meulemans

    2015-01-15

    The morphology of the vertebrate head skeleton is highly plastic, with the number, size, shape, and position of its components varying dramatically between groups. While this evolutionary flexibility has been key to vertebrate success, its developmental and genetic bases are poorly understood. The larval head skeleton of the frog Xenopus laevis possesses a unique combination of ancestral tetrapod features and anuran-specific novelties. We built a detailed gene expression map of the head mesenchyme in X. laevis during early larval development, focusing on transcription factor families with known functions in vertebrate head skeleton development. This map was then compared to homologous gene expression in zebrafish, mouse, and shark embryos to identify conserved and evolutionarily flexible aspects of vertebrate head skeleton development. While we observed broad conservation of gene expression between X. laevis and other gnathostomes, we also identified several divergent features that correlate to lineage-specific novelties. We noted a conspicuous change in dlx1/2 and emx2 expression in the second pharyngeal arch, presaging the differentiation of the reduced dorsal hyoid arch skeletal element typical of modern anamniote tetrapods. In the first pharyngeal arch we observed a shift in the expression of the joint inhibitor barx1, and new expression of the joint marker gdf5, shortly before skeletal differentiation. This suggests that the anuran-specific infrarostral cartilage evolved by partitioning of Meckel's cartilage with a new paired joint. Taken together, these comparisons support a model in which early patterning mechanisms divide the vertebrate head mesenchyme into a highly conserved set of skeletal precursor populations. While subtle changes in this early patterning system can affect skeletal element size, they do not appear to underlie the evolution of new joints or cartilages. In contrast, later expression of the genes that regulate skeletal element

  16. The role of distraction osteogenesis in the management of craniofacial syndromes

    PubMed Central

    Heggie, Andrew A.; Kumar, Ricky; Shand, Jocelyn M.

    2013-01-01

    Distraction osteogenesis (DO) has been established as a useful technique in the correction of skeletal anomalies of the long bones for several decades. However, the use of DO in the management of craniofacial deformities has been evolving over the past 20 years, with initial experience in the mandible, followed by the mid-face and subsequently, the cranium. This review aims to provide an overview of the current role of DO in the treatment of patients with craniofacial anomalies. PMID:23662252

  17. Parallelism and Epistasis in Skeletal Evolution Identified through Use of Phylogenomic Mapping Strategies

    PubMed Central

    Daane, Jacob M.; Rohner, Nicolas; Konstantinidis, Peter; Djuranovic, Sergej; Harris, Matthew P.

    2016-01-01

    The identification of genetic mechanisms underlying evolutionary change is critical to our understanding of natural diversity, but is presently limited by the lack of genetic and genomic resources for most species. Here, we present a new comparative genomic approach that can be applied to a broad taxonomic sampling of nonmodel species to investigate the genetic basis of evolutionary change. Using our analysis pipeline, we show that duplication and divergence of fgfr1a is correlated with the reduction of scales within fishes of the genus Phoxinellus. As a parallel genetic mechanism is observed in scale-reduction within independent lineages of cypriniforms, our finding exposes significant developmental constraint guiding morphological evolution. In addition, we identified fixed variation in fgf20a within Phoxinellus and demonstrated that combinatorial loss-of-function of fgfr1a and fgf20a within zebrafish phenocopies the evolved scalation pattern. Together, these findings reveal epistatic interactions between fgfr1a and fgf20a as a developmental mechanism regulating skeletal variation among fishes. PMID:26452532

  18. Exploring the Underlying Genetics of Craniofacial Morphology through Various Sources of Knowledge

    PubMed Central

    Roosenboom, Jasmien; Hens, Greet; Mattern, Brooke C.; Shriver, Mark D.

    2016-01-01

    The craniofacial complex is the billboard of sorts containing information about sex, health, ancestry, kinship, genes, and environment. A thorough knowledge of the genes underlying craniofacial morphology is fundamental to understanding craniofacial biology and evolution. These genes can also provide an important foundation for practical efforts like predicting faces from DNA and phenotype-based facial diagnostics. In this work, we focus on the various sources of knowledge regarding the genes that affect patterns of craniofacial development. Although tremendous successes recently have been made using these sources in both methodology and biology, many challenges remain. Primary among these are precise phenotyping techniques and efficient modeling methods. PMID:28053980

  19. Osteodistraction in the craniofacial region.

    PubMed

    Bertelè, G; Mercanti, M; Stella, F; Albanese, M; De Santis, D

    2005-04-01

    In the specific field of maxillofacial surgery, the use of osseous distraction is always more and more helpful not only in the rehabilitation of malformation pathologies, but also in the clinical situations that require bone deficit correction resulting from traumatic events and postsurgical effects, for example oncologic surgery. The reason for this versatility in the distraction protocols is, undoubtedly, due to the fact that, at present, they are valid surgical methods in alternative to or supporting maxillofacial surgery, since they are feasible from a very early age and they obtain a level of distraction that is often higher than with orthopedic devices or conventional surgery. There are multiple indications for osteodistraction and they range from cases of hyper- or hypodevelopment of the maxilla and mandible, of both their anteroposterior and transverse components, to complex syndromes such as cleft lip and palate. Even the clinical distraction of the upper and middle thirds of the cranium, through a coronal craniotomy, has been shown to be a safe surgical procedure and it allows, for example, the successful rehabilitation of adult patients suffering from hemifacial microsomia or craniosynostosis. With the continuous and constant evolution of the integration of osteodistraction principles in the rehabilitation of the craniofacial region, an ever-more effective interdisciplinary relationship between orthodontics and osteodistraction has been seen with growing interest. More often treatment plans are programmed in which the orthodontic and osteodistractive phases are integrated and complete each other, each supporting the other. Scientific and clinical progress achieved in this field in recent years, allows more and more refined therapeutic solutions to be programmed, permitting craniofacial operations and to repair an ankylotic dental arch or reposition osteointegrated implants to the most convenient bone sites.

  20. Craniofacial morphology of Homo floresiensis: description, taxonomic affinities, and evolutionary implication.

    PubMed

    Kaifu, Yousuke; Baba, Hisao; Sutikna, Thomas; Morwood, Michael J; Kubo, Daisuke; Saptomo, E Wahyu; Jatmiko; Awe, Rokhus Due; Djubiantono, Tony

    2011-12-01

    This paper describes in detail the external morphology of LB1/1, the nearly complete and only known cranium of Homo floresiensis. Comparisons were made with a large sample of early groups of the genus Homo to assess primitive, derived, and unique craniofacial traits of LB1 and discuss its evolution. Principal cranial shape differences between H. floresiensis and Homo sapiens are also explored metrically. The LB1 specimen exhibits a marked reductive trend in its facial skeleton, which is comparable to the H. sapiens condition and is probably associated with reduced masticatory stresses. However, LB1 is craniometrically different from H. sapiens showing an extremely small overall cranial size, and the combination of a primitive low and anteriorly narrow vault shape, a relatively prognathic face, a rounded oval foramen that is greatly separated anteriorly from the carotid canal/jugular foramen, and a unique, tall orbital shape. Whereas the neurocranium of LB1 is as small as that of some Homo habilis specimens, it exhibits laterally expanded parietals, a weak suprameatal crest, a moderately flexed occipital, a marked facial reduction, and many other derived features that characterize post-habilis Homo. Other craniofacial characteristics of LB1 include, for example, a relatively narrow frontal squama with flattened right and left sides, a marked frontal keel, posteriorly divergent temporal lines, a posteriorly flexed anteromedial corner of the mandibular fossa, a bulbous lateral end of the supraorbital torus, and a forward protruding maxillary body with a distinct infraorbital sulcus. LB1 is most similar to early Javanese Homo erectus from Sangiran and Trinil in these and other aspects. We conclude that the craniofacial morphology of LB1 is consistent with the hypothesis that H. floresiensis evolved from early Javanese H. erectus with dramatic island dwarfism. However, further field discoveries of early hominin skeletal remains from Flores and detailed analyses of the

  1. Stem cells of the suture mesenchyme in craniofacial bone development, repair and regeneration

    PubMed Central

    Maruyama, Takamitsu; Jeong, Jaeim; Sheu, Tzong-Jen; Hsu, Wei

    2016-01-01

    The suture mesenchyme serves as a growth centre for calvarial morphogenesis and has been postulated to act as the niche for skeletal stem cells. Aberrant gene regulation causes suture dysmorphogenesis resulting in craniosynostosis, one of the most common craniofacial deformities. Owing to various limitations, especially the lack of suture stem cell isolation, reconstruction of large craniofacial bone defects remains highly challenging. Here we provide the first evidence for an Axin2-expressing stem cell population with long-term self-renewing, clonal expanding and differentiating abilities during calvarial development and homeostastic maintenance. These cells, which reside in the suture midline, contribute directly to injury repair and skeletal regeneration in a cell autonomous fashion. Our findings demonstrate their true identity as skeletal stem cells with innate capacities to replace the damaged skeleton in cell-based therapy, and permit further elucidation of the stem cell-mediated craniofacial skeletogenesis, leading to revealing the complex nature of congenital disease and regenerative medicine. PMID:26830436

  2. Effects of tongue volume reduction on craniofacial growth

    PubMed Central

    Liu, Zi-Jun; Shcherbatyy, Volodymyr; Gu, Gaoman; Perkins, Jonathan A.

    2008-01-01

    The interaction between tongue size/volume and craniofacial skeletal growth is essential for understanding the mechanism of specific types of malocclusion and objectively measuring outcomes of various surgical and/or orthodontic treatments. Currently available information on this interaction is limited. This study was designed to examine how tongue body volume reduction affects craniofacial skeleton and dental arch formation during the rapid growth period in five 12-week-old Yucatan minipig sibling pairs. One of each pair received a standardized reduction glossectomy to reduce tongue volume by 15-17% (reduction group), and the other had the reduction glossectomy incisions without tissue removal (sham group). Before surgery, five stainless steel screws were implanted into standardized craniofacial skeletal locations. A series of cephalograms, lateral and axial, were obtained longitudinally at 1 week preoperative, and 2 and 4 weeks postoperative. These images were traced using superimposition, and linear and angular variables were measured digitally. Upon euthanasia, direct osteometric measurements were obtained from harvested skulls. Five en-bloc bone pieces were further cut for bone mineral examination by dual photon/energy X-ray absorptiometry (DEXA). The results indicate that: (1) while daily food consumption and weekly body weight were not significantly affected, tongue volume reduction showed an overall negative effect on the linear expansion of craniofacial skeletons; (2) premaxilla and mandibular symphysis lengths, and anterior dental arch width were significantly less in reduction than sham animals at 2 and/or 4 weeks after the surgery; (3) both premaxilla/maxilla and mandible bone mineral density and content were lower in reduction than sham animals, significantly lower in anterior mandible; (4) craniofacial skeletal and dental arch size were significantly smaller in reduction than sham animals, being most significant in the mandibular anterior length and

  3. The influence of incompetent lip seal on the growth and development of craniofacial complex.

    PubMed

    Drevensek, Martina; Stefanac-Papić, Jadranka; Farcnik, Franc

    2005-12-01

    Abnormal orofacial functions in the period of growth and development can cause morphological anomalies of the craniofacial complex. The aim of this study was to determine the correlation between open mouth posture and morphology of craniofacial complex. The shape, size and relationships of skeletal parts of craniofacial complex were determined by analysis of lateral cephalograms in the sample of 84 children--45 girls and 39 boys (aged 8.96 +/- 0.66 years). The sample was divided into two groups--lip competence and lip incompetence group. Differences in cephalometric values between observed groups were found. The values of inclination of lower central incisors (angle ILi/NB), interbasal angle (NL/NSL), angle between occlusal and mandibular plane and anterior lower facial height were significantly higher in the group with open mouth posture. It can be concluded that lip incompetence plays an important role in growth and development of craniofacial complex.

  4. An annotated history of craniofacial surgery and intentional cranial deformation.

    PubMed

    Goodrich, J T; Tutino, M

    2001-01-01

    The history of craniofacial surgery and the use of intentional cranial deformation is a long and varied one. Researching some of the earliest medical writings and reviews of early terracotta and stone figures from throughout the world clearly revealed that these two forms of treatment were widely extant. Intentional cranial deformation was used for a number of reasons including beautification, tribal identification, and social stature. The development of craniofacial surgery is a more modern practice and its historical evolution is reviewed in the context of techniques and the personalities involved.

  5. Evolution of archosaurian body plans: skeletal adaptations of an air-sac-based breathing apparatus in birds and other archosaurs.

    PubMed

    O'Connor, Patrick Michael

    2009-10-01

    Living birds represent the only extant sauropsid group in which pulmonary air sacs pneumatize the postcranial skeleton. Notable in this regard is an extraordinary degree of variability, ranging from species that are completely apneumatic to those characterized by air within the entire postcranial skeleton. Although numerous factors (e.g., body size) have been linked with "relative" pneumaticity, comparative studies examining this system remain sparse. This project sought to (1) characterize whole-body patterns of skeletal pneumaticity in distantly related neognath birds and (2) evaluate putative relationships among relative pneumaticity, body size and locomotor specializations. Pneumaticity profiles were established for 52 species representing 10 higher-level groups. Although comparisons reveal relatively conserved patterns within most lower-level clades, apparent size- and locomotor-thresholds do impart predictable deviations from the clade norm. For example, the largest flying birds (vultures, pelicans) exhibit hyperpneumaticity (i.e., pneumaticity of distal limb segments) relative to smaller members of their respective clades. In contrast, skeletal pneumaticity has been independently lost in multiple lineages of diving specialists (e.g., penguins, auks). The application of pneumaticity profiling to extinct archosaurs reveals similar trends in body size evolution, particularly when examining patterns of pneumaticity in a size-diverse assemblage of pterosaurs (flying "reptiles"). As a fundamental organizing system, skeletal pneumaticity may play a role in relaxing constraints on body size evolution by allowing volumetric increases without concomitant increases in body mass. Not only might this be critical for taxa (birds, pterosaurs) exploiting the energetically costly aerial environment, but could be beneficial for any large-bodied terrestrial vertebrates such as the dinosaurs.

  6. Regenerative Strategies for Craniofacial Disorders

    PubMed Central

    Garland, Catharine B.; Pomerantz, Jason H.

    2012-01-01

    Craniofacial disorders present markedly complicated problems in reconstruction because of the complex interactions of the multiple, simultaneously affected tissues. Regenerative medicine holds promise for new strategies to improve treatment of these disorders. This review addresses current areas of unmet need in craniofacial reconstruction and emphasizes how craniofacial tissues differ from their analogs elsewhere in the body. We present a problem-based approach to illustrate current treatment strategies for various craniofacial disorders, to highlight areas of need, and to suggest regenerative strategies for craniofacial bone, fat, muscle, nerve, and skin. For some tissues, current approaches offer excellent reconstructive solutions using autologous tissue or prosthetic materials. Thus, new “regenerative” approaches would need to offer major advantages in order to be adopted. In other tissues, the unmet need is great, and we suggest the greatest regenerative need is for muscle, skin, and nerve. The advent of composite facial tissue transplantation and the development of regenerative medicine are each likely to add important new paradigms to our treatment of craniofacial disorders. PMID:23248598

  7. The Evolution of the Mitochondria-to-Calcium Release Units Relationship in Vertebrate Skeletal Muscles

    PubMed Central

    Franzini-Armstrong, Clara; Boncompagni, Simona

    2011-01-01

    The spatial relationship between mitochondria and the membrane systems, more specifically the calcium release units (CRUs) of skeletal muscle, is of profound functional significance. CRUs are the sites at which Ca2+ is released from the sarcoplasmic reticulum during muscle activation. Close mitochondrion-CRU proximity allows the organelles to take up Ca2+ and thus stimulate aerobic metabolism. Skeletal muscles of most mammals display an extensive, developmentally regulated, close mitochondrion-CRU association, fostered by tethering links between the organelles. A comparative look at the vertebrate subphylum however shows that this specific association is only present in the higher vertebrates (mammals). Muscles in all other vertebrates, even if capable of fast activity, rely on a less precise and more limited mitochondrion-CRU proximity, despite some tethering connections. This is most evident in fish muscles. Clustering of free subsarcolemmal mitochondria in proximity of capillaries is also more frequently achieved in mammalian than in other vertebrates. PMID:22013386

  8. The evolution, development and skeletal identity of the crocodylian pelvis: revisiting a forgotten scientific debate.

    PubMed

    Claessens, Leon P A M; Vickaryous, Matthew K

    2012-10-01

    Unlike most tetrapods, in extant crocodylians the acetabulum is formed by only two of the three skeletal elements that constitute the pelvis, the ilium, and ischium. This peculiar arrangement is further confused by various observations that suggest the crocodylian pelvis initially develops from four skeletal elements: the ilium, ischium, pubis, and a novel element, the prepubis. According to one popular historical hypothesis, in crocodylians (and many extinct archosaurs), the pubis fuses with the ischium during skeletogenesis, leaving the prepubis as a distinct element, albeit one which is excluded from the acetabulum. Whereas the notion of a distinct prepubic element was once a topic of considerable interest, it has never been properly resolved. Here, we combine data gleaned from a developmental series of Alligator mississippiensis embryos, with a revised interpretation of fossil evidence from numerous outgroups to Crocodylia. We demonstrate that the modern crocodylian pelvis is composed of only three elements: the ilium, ischium, and pubis. The reported fourth pelvic element is an unossified portion of the ischium. Interpretations of pelvic skeletal homology have featured prominently in sauropsid systematics, and the unambiguous identification of the crocodylian pubis provides an important contribution to address larger scale evolutionary questions associated with locomotion and respiration.

  9. Skeletal histology of Bothriolepis canadensis (Placodermi, Antiarchi) and evolution of the skeleton at the origin of jawed vertebrates.

    PubMed

    Downs, Jason P; Donoghue, Philip C J

    2009-11-01

    We used light microscopy and scanning electron microscopy to compile a complete histological description of the dermal skeleton of the antiarch placoderm, Bothriolepis canadensis. Placodermi is most often cited as the sister group of crown group Gnathostomata, but some recent authors propose that placoderms instead represent a paraphyly of forms leading to the crown. In either phylogenetic scenario, comparative analysis of placoderm and gnathostome histological data allows us to address the primitive condition of both the gnathostome skeleton and the jawed vertebrate skeleton. The results of this work support the interpretation that the external skeleton of Bothriolepis canadensis is comprised exclusively of cellular dermal bone tissue. The unique stratification of the antiarch thoracic skeleton that has led to controversial interpretations in the past is explained by the nature of the articulations between adjacent elements. Skeletal features long thought to be gnathostome innovations are instead discovered to arise along the gnathostome stem. These innovations include secondary osteons, the systematic reconstruction of the skeleton in response to growth, and unfused, overlapping joints that enable marginal growth while maximizing the area of the articulation surface. The extensive evidence for spheritic mineralization agrees with a model of the skeleton as one capable of a high growth rate and active remodeling. Dermal skeletal development in both placoderms and osteichthyans is primarily skeletogenetic with only a minor odontogenetic contribution in some taxa. This demonstrates the problem inherent with assuming a broad application for those hypotheses of dermal skeletal evolution that are based on a chondrichthyan model. Our results highlight the importance of anatomical and ontogenetic context in the interpretation of fossil tissues.

  10. Understanding Cleft and Craniofacial Team Care

    MedlinePlus

    ... Donor Spotlight Fundraising Ideas Vehicle Donation Volunteer Efforts Cleft Lip/Palate & Craniofacial Specialists in Your Area skip to submenu Parents & Individuals Cleft Lip/Palate & Craniofacial Specialists in Your Area Team Disclaimer States: ...

  11. New insights into craniofacial malformations

    PubMed Central

    Twigg, Stephen R.F.; Wilkie, Andrew O.M.

    2015-01-01

    Development of the human skull and face is a highly orchestrated and complex three-dimensional morphogenetic process, involving hundreds of genes controlling the coordinated patterning, proliferation and differentiation of tissues having multiple embryological origins. Craniofacial malformations that occur because of abnormal development (including cleft lip and/or palate, craniosynostosis and facial dysostoses), comprise over one-third of all congenital birth defects. High-throughput sequencing has recently led to the identification of many new causative disease genes and functional studies have clarified their mechanisms of action. We present recent findings in craniofacial genetics and discuss how this information together with developmental studies in animal models is helping to increase understanding of normal craniofacial development. PMID:26085576

  12. Imaging of craniofacial fibrous dysplasia.

    PubMed

    Lisle, D A; Monsour, P A J; Maskiell, C D

    2008-08-01

    Fibrous dysplasia is a relatively common disorder of bone. It may affect the bones of the face and skull and, in so doing, produce a wide variety of clinical presentations. Plain film assessment of craniofacial fibrous dysplasia may be difficult because of varying appearances and complex, overlapping structures. The MRI appearances of fibrous dysplasia are often non-specific and may be confusing. Findings on CT are also variable, but more commonly lead to a specific diagnosis. This is because of the characteristic ground-glass appearance of woven bone, seen on CT in most if not all cases of craniofacial fibrous dysplasia.

  13. Summarizing craniofacial genetics and developmental biology (SCGDB).

    PubMed

    Hall, Brian K

    2014-04-01

    This overview article highlights active areas of research in craniofacial genetics and developmental biology as reflected in presentations given at the 34th annual meeting of the Society of Craniofacial Genetics and Developmental Biology (SCGDB) in Montreal, Quebec on October 11, 2011. This 1-day meeting provided a stimulating occasion that demonstrated the present status of research in craniofacial genetics and developmental biology and where the field is heading. To accompany the abstracts published in this issue I have selected several themes that emerged from the meeting. After discussing the basis on which craniofacial defects/syndromes are classified and investigated, I address the multi-gene basis of craniofacial syndromes with an examination of the roles of Sox9 and FGF receptors in normal and abnormal craniofacial development. I then turn to the knowledge being gained from population-wide and longitudinal cohort studies and from the discovery of new signaling centers that regulate craniofacial development.

  14. Neurophysiological assessment of craniofacial pain.

    PubMed

    Galeotti, Francesca; Truini, Andrea; Cruccu, Giorgio

    2006-04-01

    This review deals with the diagnostic usefulness of neurophysiological testing in patients with craniofacial pain. Neurophysiological testing of trigeminal nerve function relies on trigeminal reflexes and laser-evoked potentials (LEPs). This review briefly describes the physiology of trigeminal reflexes and LEPs, reports normal values and highlights the neurophysiological abnormalities in the main clinical conditions.

  15. Biomaterials for Craniofacial Bone Engineering

    PubMed Central

    Tevlin, R.; McArdle, A.; Atashroo, D.; Walmsley, G.G.; Senarath-Yapa, K.; Zielins, E.R.; Paik, K.J.; Longaker, M.T.; Wan, D.C.

    2014-01-01

    Conditions such as congenital anomalies, cancers, and trauma can all result in devastating deficits of bone in the craniofacial skeleton. This can lead to significant alteration in function and appearance that may have significant implications for patients. In addition, large bone defects in this area can pose serious clinical dilemmas, which prove difficult to remedy, even with current gold standard surgical treatments. The craniofacial skeleton is complex and serves important functional demands. The necessity to develop new approaches for craniofacial reconstruction arises from the fact that traditional therapeutic modalities, such as autologous bone grafting, present myriad limitations and carry with them the potential for significant complications. While the optimal bone construct for tissue regeneration remains to be elucidated, much progress has been made in the past decade. Advances in tissue engineering have led to innovative scaffold design, complemented by progress in the understanding of stem cell–based therapy and growth factor enhancement of the healing cascade. This review focuses on the role of biomaterials for craniofacial bone engineering, highlighting key advances in scaffold design and development. PMID:25139365

  16. Bone Grafts in Craniofacial Surgery

    PubMed Central

    Elsalanty, Mohammed E.; Genecov, David G.

    2009-01-01

    Reconstruction of cranial and maxillofacial defects is a challenging task. The standard reconstruction method has been bone grafting. In this review, we shall describe the biological principles of bone graft healing, as pertinent to craniofacial reconstruction. Different types and sources of bone grafts will be discussed, as well as new methods of bone defect reconstruction. PMID:22110806

  17. Craniofacial clefting and sutural dystopia.

    PubMed

    Moore, M H; Edwards, T J; David, D J

    1991-07-01

    Sutural anomalies in conjunction with craniofacial clefting are unusual. A case of median frontal clefting is presented in which there was an absence of a normal metopic suture and replacement by paramedian frontal sutures. The association of an underlying brain anomaly, with attendant surgical difficulties, is noted, as are the radiological techniques of preoperative diagnosis.

  18. Evolutionary anthropology and genes: investigating the genetics of human evolution from excavated skeletal remains.

    PubMed

    Anastasiou, Evilena; Mitchell, Piers D

    2013-10-01

    The development of molecular tools for the extraction, analysis and interpretation of DNA from the remains of ancient organisms (paleogenetics) has revolutionised a range of disciplines as diverse as the fields of human evolution, bioarchaeology, epidemiology, microbiology, taxonomy and population genetics. The paper draws attention to some of the challenges associated with the extraction and interpretation of ancient DNA from archaeological material, and then reviews the influence of paleogenetics on the field of human evolution. It discusses the main contributions of molecular studies to reconstructing the evolutionary and phylogenetic relationships between extinct hominins (human ancestors) and anatomically modern humans. It also explores the evidence for evolutionary changes in the genetic structure of anatomically modern humans in recent millennia. This breadth of research has led to discoveries that would never have been possible using traditional approaches to human evolution.

  19. Incremental evolution of the neural crest, neural crest cells and neural crest-derived skeletal tissues.

    PubMed

    Hall, Brian K; Gillis, J Andrew

    2013-01-01

    Urochordates (ascidians) have recently supplanted cephalochordates (amphioxus) as the extant sister taxon of vertebrates. Given that urochordates possess migratory cells that have been classified as 'neural crest-like'- and that cephalochordates lack such cells--this phylogenetic hypothesis may have significant implications with respect to the origin of the neural crest and neural crest-derived skeletal tissues in vertebrates. We present an overview of the genes and gene regulatory network associated with specification of the neural crest in vertebrates. We then use these molecular data--alongside cell behaviour, cell fate and embryonic context--to assess putative antecedents (latent homologues) of the neural crest or neural crest cells in ascidians and cephalochordates. Ascidian migratory mesenchymal cells--non-pigment-forming trunk lateral line cells and pigment-forming 'neural crest-like cells' (NCLC)--are unlikely latent neural crest cell homologues. Rather, Snail-expressing cells at the neural plate of border of urochordates and cephalochordates likely represent the extent of neural crest elaboration in non-vertebrate chordates. We also review evidence for the evolutionary origin of two neural crest-derived skeletal tissues--cartilage and dentine. Dentine is a bona fide vertebrate novelty, and dentine-secreting odontoblasts represent a cell type that is exclusively derived from the neural crest. Cartilage, on the other hand, likely has a much deeper origin within the Metazoa. The mesodermally derived cellular cartilages of some protostome invertebrates are much more similar to vertebrate cartilage than is the acellular 'cartilage-like' tissue in cephalochordate pharyngeal arches. Cartilage, therefore, is not a vertebrate novelty, and a well-developed chondrogenic program was most likely co-opted from mesoderm to the neural crest along the vertebrate stem. We conclude that the neural crest is a vertebrate novelty, but that neural crest cells and their

  20. Craniofacial Deviations in the Children With Nasal Obstruction.

    PubMed

    Ant, Ayca; Kemaloglu, Yusuf Kemal; Yilmaz, Metin; Dilci, Alper

    2017-01-20

    Nasal obstruction mainly caused by adenoid hypertrophy in children affects the craniofacial growth and development process, and the craniofacial deviations and/or differences reported in the children are very similar to those in the adults with obstructive sleep apnea syndrome (OSAS). The authors aimed to look for relationships of the linear craniofacial dimensions in the children suffering from nasal obstruction with age, degree of clinical nasal obstruction score (CNOS), and relative size of the adenoid mass within the nasopharynx in their study.Fifty-five children suffering from nasal obstruction were retrospectively enrolled, and clinical data was used to calculate CNOS. On the lateral cephalometric radiographies, 9 linear variables were measured and adenoidal-nasopharyngeal ratio (ANR) was calculated.The data presented that, not CNOS, but ANR shown decrease by age, while many skeletal variables with exception of the nasopharyngeal and adenoidal postero-anterior dimensions were increased by age. Further, it was found that while CNOS were negatively correlated with the anterior cranial base length, anterior-superior facial height, and maxillary depth, ANR disclosed significant correlation only with the anteriorsuperior facial height. The authors' results support that nasal obstruction in the children was related not only to the adenoidal hypertrophy. Although relative size of the adenoidal mass in relation to the nasopharynx decreased by age, nasal obstruction was still present. Further, these results support that craniofacial deviations and/or differences in the children with nasal obstruction is similar to the adult OSAS patients. Smaller dimensions related to the naso-maxillary complex in the children with more severe nasal obstruction appear to be continuous by age. Hence, it could be said that narrow naso-maxillary complex could contribute to proceed nasal obstruction by age, which may contribute to OSAS in the adults.

  1. Multimodality imaging for precise localization of craniofacial osteomyelitis.

    PubMed

    Strumas, Nick; Antonyshyn, Oleh; Caldwell, Curtis B; Mainprize, James

    2003-03-01

    Functional imaging identifies areas of abnormal bone turnover, providing a useful adjunct in the treatment of osteomyelitis and bone tumors. The low resolution and lack of anatomical detail limit the application of bone scans in craniofacial surgery, however. Multimodality image registration addresses this problem by fusing functional images (single photon emission computed tomography [SPECT]) to high-resolution structural images (computed tomography [CT]) for precise anatomical delineation of bone activity. This article describes a technique for spatial registration of CT and SPECT images to provide precise anatomical delineation of abnormal bone turnover, thereby guiding the extent of resection in the management of craniofacial osteomyelitis. Standard CT and SPECT imaging protocols were used in imaging the skull from the vertex to the mentum. Image data were imported into Analyze (Biomedical Imaging Resource; Mayo Foundation, Rochester, MN) on a dedicated Windows NT (Microsoft Corporation, Redmond, WA) workstation. Using the CT data, the craniofacial skeleton, osteotomy segments, and bone grafts were interactively mapped out. Consecutive axial slices were then reconstructed to form a three-dimensional volume of interest. The CT-derived volume of interest was registered to the technetium Tc 99m-methylene diphosphonate SPECT scan using the Analyze program to provide a fused multimodality image. The imaging technique was used to localize osteomyelitis in a complex craniofacial reconstruction. The fused images guided the extent of resection during surgery, and postoperative microbiological and histological testing confirmed the diagnosis. Multimodality image registration provides a readily available method to relate facial skeletal anatomy and physiology. This technique is valuable in planning and monitoring therapeutic interventions in clinical conditions in which bone turnover is abnormal.

  2. Cephalometric assessment of craniofacial morphology in Japanese male patients with obstructive sleep apnea-hypopnea syndrome.

    PubMed

    Takai, Yujiro; Yamashiro, Yoshihiro; Satoh, Daisuke; Isobe, Kazutoshi; Sakamoto, Susumu; Homma, Sakae

    2012-07-01

    CRANIOFACIAL MORPHOLOGICAL ANOMALIES CAN BE DIVIDED INTO TWO PRINCIPAL CATEGORIES: skeletal anomalies and soft tissue anomalies. This study examined the hypothesis that the assessment of indices representing both skeletal and soft tissue can be used to appropriately identify the risk factor of obstructive sleep apnea-hypopnea syndrome (OSAHS). 232 suspected OSAHS male patients were examined with polysomnography and divided into two groups (202 males with OSAHS and 30 male controls without OSAHS). Cephalometric analysis was performed on all patients to evaluate craniofacial morphological anomalies. The measurement sites were as follows: skeletal morphology; soft tissue morphology; mixed morphology including mandibular plane to hyoid bone (MP-H); and jaw soft tissue (JS) ratio; a novel ratio we defined, between the area of jaw and area of tongue with soft palate. JS ratio increased with AHI as well as MP-H. MP-H and JS ratio showed significant but weak correlation with apnea-hypopnea index. JS ratio was significantly associated with an increased risk for severe OSAHS, even after adjusting age and BMI, its odds ratio was the greatest among these variables. These results showed that mixed craniofacial, skeletal and soft tissue morphology are correlated with AHI, and JS ratio may be a useful parameters to explain the characteristics of OSAHS in male patients.

  3. CRANIAL NEURAL CREST CELLS ON THE MOVE: THEIR ROLES IN CRANIOFACIAL DEVELOPMENT

    PubMed Central

    Cordero, Dwight R.; Brugmann, Samantha; Chu, Yvonne; Bajpai, Ruchi; Jame, Maryam; Helms, Jill A.

    2010-01-01

    The craniofacial region is assembled through the active migration of cells and the rearrangement and sculpting of facial prominences and pharyngeal arches, which consequently make it particularly susceptible to a large number of birth defects. Genetic, molecular, and cellular processes must be temporally and spatially regulated to culminate in the three-dimension structures of the face. The starting constituent for the majority of skeletal and connective tissues in the face is a pluripotent population of cells, the cranial neural crest cells (NCCs). In this review we discuss the newest scientific findings in the development of the craniofacial complex as related to NCCs. Furthermore, we present recent findings on NCC diseases called neurocristopathies and, in doing so, provide clinicians with new tools for understanding a growing number of craniofacial genetic disorders. PMID:21271641

  4. Best face forward: Virtual modeling and custom device fabrication to optimize craniofacial vascularized composite allotransplantation.

    PubMed

    Jacobs, Jordan M S; Dec, Wojciech; Levine, Jamie P; McCarthy, Joseph G; Weimer, Katie; Moore, Kurt; Ceradini, Daniel J

    2013-01-01

    Craniofacial vascularized composite allotransplantation is especially challenging when bony components are required. Matching the complex three-dimensional anatomy of the donor and recipient craniofacial skeletons to optimize bony contact and dental occlusion is a time-consuming step in the operating room. Currently, few tools exist to facilitate this process. The authors describe the development of a virtual planning protocol and patient-specific device design to efficiently match the donor and recipient skeletal elements in craniofacial vascularized composite allotransplantation. The protocol was validated in a cadaveric transplant. This innovative planning method allows a "snap-fit" reconstruction using custom surgical guides while maintaining facial height and width and functional occlusion. Postoperative overlay technology in the virtual environment provides an objective outcome analysis.

  5. Stem cells, growth factors and scaffolds in craniofacial regenerative medicine

    PubMed Central

    Tollemar, Viktor; Collier, Zach J.; Mohammed, Maryam K.; Lee, Michael J.; Ameer, Guillermo A.; Reid, Russell R.

    2015-01-01

    Current reconstructive approaches to large craniofacial skeletal defects are often complicated and challenging. Critical-sized defects are unable to heal via natural regenerative processes and require surgical intervention, traditionally involving autologous bone (mainly in the form of nonvascularized grafts) or alloplasts. Autologous bone grafts remain the gold standard of care in spite of the associated risk of donor site morbidity. Tissue engineering approaches represent a promising alternative that would serve to facilitate bone regeneration even in large craniofacial skeletal defects. This strategy has been tested in a myriad of iterations by utilizing a variety of osteoconductive scaffold materials, osteoblastic stem cells, as well as osteoinductive growth factors and small molecules. One of the major challenges facing tissue engineers is creating a scaffold fulfilling the properties necessary for controlled bone regeneration. These properties include osteoconduction, osetoinduction, biocompatibility, biodegradability, vascularization, and progenitor cell retention. This review will provide an overview of how optimization of the aforementioned scaffold parameters facilitates bone regenerative capabilities as well as a discussion of common osteoconductive scaffold materials. PMID:27239485

  6. Creation of three-dimensional craniofacial standards from CBCT images

    NASA Astrophysics Data System (ADS)

    Subramanyan, Krishna; Palomo, Martin; Hans, Mark

    2006-03-01

    Low-dose three-dimensional Cone Beam Computed Tomography (CBCT) is becoming increasingly popular in the clinical practice of dental medicine. Two-dimensional Bolton Standards of dentofacial development are routinely used to identify deviations from normal craniofacial anatomy. With the advent of CBCT three dimensional imaging, we propose a set of methods to extend these 2D Bolton Standards to anatomically correct surface based 3D standards to allow analysis of morphometric changes seen in craniofacial complex. To create 3D surface standards, we have implemented series of steps. 1) Converting bi-plane 2D tracings into set of splines 2) Converting the 2D splines curves from bi-plane projection into 3D space curves 3) Creating labeled template of facial and skeletal shapes and 4) Creating 3D average surface Bolton standards. We have used datasets from patients scanned with Hitachi MercuRay CBCT scanner providing high resolution and isotropic CT volume images, digitized Bolton Standards from age 3 to 18 years of lateral and frontal male, female and average tracings and converted them into facial and skeletal 3D space curves. This new 3D standard will help in assessing shape variations due to aging in young population and provide reference to correct facial anomalies in dental medicine.

  7. Blepharocheilodontic (BCD) syndrome: New insights on craniofacial and dental features.

    PubMed

    Awadh, Wael; Kiukkonen, Anu; Nieminen, Pekka; Arte, Sirpa; Hurmerinta, Kirsti; Rice, David P

    2017-04-01

    Blepharocheilodontic (BCD) syndrome is a rare condition characterized by bilateral cleft lip and palate (BCLP), eyelid abnormalities, and oligodontia. Despite orofacial clefting and oligodontia being central features of the condition, detailed reports of dental and craniofacial characteristics are scarce. The aim of this study was to analyze the dental and craniofacial features in a group of patients with BCD syndrome (three of which were related). Cephalometric radiographic analyses were performed on BCD syndrome patients (all radiographs taken at age 8 years) and compared to 40 randomly selected age-matched controls (20 non-syndromic BCLP, 20 non-cleft). Also, we assessed clinical records, photographs, dental study casts, and dental radiographs to determine the extent and pattern of tooth agenesis, dental morphology and malocclusion. BCD syndrome patients showed a very severe skeletal III malocclusion (maxillary-mandibular sagittal discrepancy) and reduced anterior lower face measurement compared to non-syndromic BCLP and non-cleft controls (P = 0.001, P = 0.027). All patients exhibited oligodontia (mean number of missing permanent teeth 13.7, range 7-17). All patients exhibited missing upper central and lateral incisor, upper canine and premolar teeth. Variations in dental morphology included taurodontism, conical-shaped teeth, and notching of the incisal edges. All patients had a short and narrow maxilla which translated into anterior and posterior cross bites. We conclude that, in our BCD syndrome group, the craniofacial skeletal defects are more severe than patients with BCLP. The pattern of tooth agenesis is unusual as it included teeth that are normally highly resistant to agenesis, namely upper central incisor and canine teeth. © 2017 Wiley Periodicals, Inc.

  8. First molar health status in different craniofacial relationships

    PubMed Central

    Linjawi, Amal I

    2016-01-01

    Objective To investigate the association between the health status of permanent first molars and different craniofacial relationships among adolescents. Study design This is a retrospective study on patients’ records aged 11–15 years. Sex, skeletal relationship, vertical growth pattern, malocclusion, overjet, and overbite were assessed. The health status of permanent first molars was recorded from the orthopantomograms and intraoral photographs as “sound” and “not sound”. Chi-square, Mann–Whitney U and Kruskal–Wallis tests, and Pearson’s correlation coefficient were used to analyze and correlate the assessed variables. Significance level was set at P<0.05. Results A total of 210 records were evaluated; 81 were male, 68 had Class I and 91 had Class II skeletal relationships. More than half of the subjects had normal (n=67) to moderate deep bite (n=72); normal (n=91), moderately increased (n=54), to severely increased (n=50) overjet; and Class I (n=106) and Class II division 1 (n=75) malocclusion. Significant differences were found in the health status of the permanent first molars with respect to sex (P=0.034), vertical growth pattern (P=0.01), and overbite (P=0.047). Strong correlations were only found between the health status of the permanent first molars and the following variables: sex (P=0.036) and vertical growth pattern (P=0.004). Significant correlation was further found between the upper left first molar health status and sex (P=0.019) and the lower right first molar health status and the vertical growth pattern (P=0.001). No significant association was found with the anteroposterior craniofacial relationships (P>0.05). Conclusion Sex difference and vertical growth patterns were found to be potential predictors of the health status of the permanent first molars. No significant association was found with the anteroposterior craniofacial relationships. PMID:27462176

  9. Ecology and caudal skeletal morphology in birds: the convergent evolution of pygostyle shape in underwater foraging taxa.

    PubMed

    Felice, Ryan N; O'Connor, Patrick M

    2014-01-01

    Birds exhibit a specialized tail that serves as an integral part of the flight apparatus, supplementing the role of the wings in facilitating high performance aerial locomotion. The evolution of this function for the tail contributed to the diversification of birds by allowing them to utilize a wider range of flight behaviors and thus exploit a greater range of ecological niches. The shape of the wings and the tail feathers influence the aerodynamic properties of a bird. Accordingly, taxa that habitually utilize different flight behaviors are characterized by different flight apparatus morphologies. This study explores whether differences in flight behavior are also associated with variation in caudal vertebra and pygostyle morphology. Details of the tail skeleton were characterized in 51 Aequornithes and Charadriiformes species. Free caudal vertebral morphology was measured using linear metrics. Variation in pygostyle morphology was characterized using Elliptical Fourier Analysis, a geometric morphometric method for the analysis of outline shapes. Each taxon was categorized based on flight style (flap, flap-glide, dynamic soar, etc.) and foraging style (aerial, terrestrial, plunge dive, etc.). Phylogenetic MANOVAs and Flexible Discriminant Analyses were used to test whether caudal skeletal morphology can be used to predict flight behavior. Foraging style groups differ significantly in pygostyle shape, and pygostyle shape predicts foraging style with less than 4% misclassification error. Four distinct lineages of underwater foraging birds exhibit an elongate, straight pygostyle, whereas aerial and terrestrial birds are characterized by a short, dorsally deflected pygostyle. Convergent evolution of a common pygostyle phenotype in diving birds suggests that this morphology is related to the mechanical demands of using the tail as a rudder during underwater foraging. Thus, distinct locomotor behaviors influence not only feather attributes but also the underlying

  10. Ecology and Caudal Skeletal Morphology in Birds: The Convergent Evolution of Pygostyle Shape in Underwater Foraging Taxa

    PubMed Central

    Felice, Ryan N.; O’Connor, Patrick M.

    2014-01-01

    Birds exhibit a specialized tail that serves as an integral part of the flight apparatus, supplementing the role of the wings in facilitating high performance aerial locomotion. The evolution of this function for the tail contributed to the diversification of birds by allowing them to utilize a wider range of flight behaviors and thus exploit a greater range of ecological niches. The shape of the wings and the tail feathers influence the aerodynamic properties of a bird. Accordingly, taxa that habitually utilize different flight behaviors are characterized by different flight apparatus morphologies. This study explores whether differences in flight behavior are also associated with variation in caudal vertebra and pygostyle morphology. Details of the tail skeleton were characterized in 51 Aequornithes and Charadriiformes species. Free caudal vertebral morphology was measured using linear metrics. Variation in pygostyle morphology was characterized using Elliptical Fourier Analysis, a geometric morphometric method for the analysis of outline shapes. Each taxon was categorized based on flight style (flap, flap-glide, dynamic soar, etc.) and foraging style (aerial, terrestrial, plunge dive, etc.). Phylogenetic MANOVAs and Flexible Discriminant Analyses were used to test whether caudal skeletal morphology can be used to predict flight behavior. Foraging style groups differ significantly in pygostyle shape, and pygostyle shape predicts foraging style with less than 4% misclassification error. Four distinct lineages of underwater foraging birds exhibit an elongate, straight pygostyle, whereas aerial and terrestrial birds are characterized by a short, dorsally deflected pygostyle. Convergent evolution of a common pygostyle phenotype in diving birds suggests that this morphology is related to the mechanical demands of using the tail as a rudder during underwater foraging. Thus, distinct locomotor behaviors influence not only feather attributes but also the underlying

  11. A systematic review of the oral and craniofacial manifestations of cri du chat syndrome.

    PubMed

    Corcuera-Flores, José-Ramón; Casttellanos-Cosano, Lizett; Torres-Lagares, Daniel; Serrera-Figallo, María Ángeles; Rodríguez-Caballero, Ángela; Machuca-Portillo, Guillermo

    2016-07-01

    Cri du chat syndrome is an autosomal disorder. Because it affects few people in the population it is considered a rare disease, yet it is one of the most common autosomal chromosomal syndromes in humans. It entails pathognomonic alterations that affect the craniofacial and oral anatomy of patients. The aim of this study is to review these craniofacial and oral abnormalities in patients with Cri du chat syndrome. The PubMed Medline database was searched using two different strategies. First, we used "Dentistry" and "Cri du chat" as keywords; second, we used "Cri du chat" and "craniofacial." Seven articles in which the main orofacial and cranio-skeletal characteristics of patients with Cri du chat syndrome were described were selected according to the inclusion and exclusion criteria. Cri du Chat syndrome entails pathognomonic characteristics in the craniofacial area (epicanthus, short philtrum, and wide nasal bridge), the oral area (mandibular retrognathism and anterior open bite) and the cranial region (alterations at the cranial base angle and a small upper airway). However, more studies on larger samples are needed to specify the orofacial and craniofacial characteristics of patients with Cri du chat syndrome more accurately. Clin. Anat. 29:555-560, 2016. © 2015 Wiley Periodicals, Inc.

  12. Divergent and conserved roles of Dll1 signaling in development of craniofacial and trunk muscle.

    PubMed

    Czajkowski, Maciej T; Rassek, Claudia; Lenhard, Diana C; Bröhl, Dominique; Birchmeier, Carmen

    2014-11-15

    Craniofacial and trunk skeletal muscles are evolutionarily distinct and derive from cranial and somitic mesoderm, respectively. Different regulatory hierarchies act upstream of myogenic regulatory factors in cranial and somitic mesoderm, but the same core regulatory network - MyoD, Myf5 and Mrf4 - executes the myogenic differentiation program. Notch signaling controls self-renewal of myogenic progenitors as well as satellite cell homing during formation of trunk muscle, but its role in craniofacial muscles has been little investigated. We show here that the pool of myogenic progenitor cells in craniofacial muscle of Dll1(LacZ/Ki) mutant mice is depleted in early fetal development, which is accompanied by a major deficit in muscle growth. At the expense of progenitor cells, supernumerary differentiating myoblasts appear transiently and these express MyoD. The progenitor pool in craniofacial muscle of Dll1(LacZ/Ki) mutants is largely rescued by an additional mutation of MyoD. We conclude from this that Notch exerts its decisive role in craniofacial myogenesis by repression of MyoD. This function is similar to the one previously observed in trunk myogenesis, and is thus conserved in cranial and trunk muscle. However, in cranial mesoderm-derived progenitors, Notch signaling is not required for Pax7 expression and impinges little on the homing of satellite cells. Thus, Dll1 functions in satellite cell homing and Pax7 expression diverge in cranial- and somite-derived muscle.

  13. Virtual Surgical Planning in Craniofacial Surgery

    PubMed Central

    Chim, Harvey; Wetjen, Nicholas; Mardini, Samir

    2014-01-01

    The complex three-dimensional anatomy of the craniofacial skeleton creates a formidable challenge for surgical reconstruction. Advances in computer-aided design and computer-aided manufacturing technology have created increasing applications for virtual surgical planning in craniofacial surgery, such as preoperative planning, fabrication of cutting guides, and stereolithographic models and fabrication of custom implants. In this review, the authors describe current and evolving uses of virtual surgical planning in craniofacial surgery. PMID:25210509

  14. Skeletal development in sloths and the evolution of mammalian vertebral patterning.

    PubMed

    Hautier, Lionel; Weisbecker, Vera; Sánchez-Villagra, Marcelo R; Goswami, Anjali; Asher, Robert J

    2010-11-02

    Mammals show a very low level of variation in vertebral count, particularly in the neck. Phenotypes exhibited at various stages during the development of the axial skeleton may play a key role in testing mechanisms recently proposed to explain this conservatism. Here, we provide osteogenetic data that identify developmental criteria with which to recognize cervical vs. noncervical vertebrae in mammals. Except for sloths, all mammals show the late ossification of the caudal-most centra in the neck after other centra and neural arches. In sloths with 8-10 ribless neck vertebrae, the caudal-most neck centra ossify early, matching the pattern observed in cranial thoracic vertebrae of other mammals. Accordingly, we interpret the ribless neck vertebrae of three-toed sloths caudal to V7 as thoracic based on our developmental criterion. Applied to the unusual vertebral phenotype of long-necked sloths, these data support the interpretation that elements of the axial skeleton with origins from distinct mesodermal tissues have repatterned over the course of evolution.

  15. Reassessment of the Evidence for Postcranial Skeletal Pneumaticity in Triassic Archosaurs, and the Early Evolution of the Avian Respiratory System

    PubMed Central

    Butler, Richard J.; Barrett, Paul M.; Gower, David J.

    2012-01-01

    Uniquely among extant vertebrates, birds possess complex respiratory systems characterised by the combination of small, rigid lungs, extensive pulmonary air sacs that possess diverticula that invade (pneumatise) the postcranial skeleton, unidirectional ventilation of the lungs, and efficient crosscurrent gas exchange. Crocodilians, the only other living archosaurs, also possess unidirectional lung ventilation, but lack true air sacs and postcranial skeletal pneumaticity (PSP). PSP can be used to infer the presence of avian-like pulmonary air sacs in several extinct archosaur clades (non-avian theropod dinosaurs, sauropod dinosaurs and pterosaurs). However, the evolution of respiratory systems in other archosaurs, especially in the lineage leading to crocodilians, is poorly documented. Here, we use µCT-scanning to investigate the vertebral anatomy of Triassic archosaur taxa, from both the avian and crocodilian lineages as well as non-archosaurian diapsid outgroups. Our results confirm previous suggestions that unambiguous evidence of PSP (presence of internal pneumatic cavities linked to the exterior by foramina) is found only in bird-line (ornithodiran) archosaurs. We propose that pulmonary air sacs were present in the common ancestor of Ornithodira and may have been subsequently lost or reduced in some members of the clade (notably in ornithischian dinosaurs). The development of these avian-like respiratory features might have been linked to inferred increases in activity levels among ornithodirans. By contrast, no crocodile-line archosaur (pseudosuchian) exhibits evidence for unambiguous PSP, but many of these taxa possess the complex array of vertebral laminae and fossae that always accompany the presence of air sacs in ornithodirans. These laminae and fossae are likely homologous with those in ornithodirans, which suggests the need for further investigation of the hypothesis that a reduced, or non-invasive, system of pulmonary air sacs may be have been present

  16. Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence

    PubMed Central

    Gordon, Christopher T.; Attanasio, Catia; Bhatia, Shipra; Benko, Sabina; Ansari, Morad; Tan, Tiong Y.; Munnich, Arnold; Pennacchio, Len A.; Abadie, Véronique; Temple, I. Karen; Goldenberg, Alice; van Heyningen, Veronica; Amiel, Jeanne; FitzPatrick, David; Kleinjan, Dirk A.; Visel, Axel; Lyonnet, Stanislas

    2015-01-01

    Mutations in the coding sequence of SOX9 cause campomelic dysplasia (CD), a disorder of skeletal development associated with 46,XY disorders of sex development (DSDs). Translocations, deletions and duplications within a ~2 Mb region upstream of SOX9 can recapitulate the CD-DSD phenotype fully or partially, suggesting the existence of an unusually large cis-regulatory control region. Pierre Robin sequence (PRS) is a craniofacial disorder that is frequently an endophenotype of CD and a locus for isolated PRS at ~1.2-1.5 Mb upstream of SOX9 has been previously reported. The craniofacial regulatory potential within this locus, and within the greater genomic domain surrounding SOX9, remains poorly defined. We report two novel deletions upstream of SOX9 in families with PRS, allowing refinement of the regions harbouring candidate craniofacial regulatory elements. In parallel, ChIP-Seq for p300 binding sites in mouse craniofacial tissue led to the identification of several novel craniofacial enhancers at the SOX9 locus, which were validated in transgenic reporter mice and zebrafish. Notably, some of the functionally validated elements fall within the PRS deletions. These studies suggest that multiple non-coding elements contribute to the craniofacial regulation of SOX9 expression, and that their disruption results in PRS. PMID:24934569

  17. The Ribosome Biogenesis Factor Nol11 Is Required for Optimal rDNA Transcription and Craniofacial Development in Xenopus

    PubMed Central

    Griffin, John N.; Sondalle, Samuel B.; del Viso, Florencia; Baserga, Susan J.; Khokha, Mustafa K.

    2015-01-01

    The production of ribosomes is ubiquitous and fundamental to life. As such, it is surprising that defects in ribosome biogenesis underlie a growing number of symptomatically distinct inherited disorders, collectively called ribosomopathies. We previously determined that the nucleolar protein, NOL11, is essential for optimal pre-rRNA transcription and processing in human tissue culture cells. However, the role of NOL11 in the development of a multicellular organism remains unknown. Here, we reveal a critical function for NOL11 in vertebrate ribosome biogenesis and craniofacial development. Nol11 is strongly expressed in the developing cranial neural crest (CNC) of both amphibians and mammals, and knockdown of Xenopus nol11 results in impaired pre-rRNA transcription and processing, increased apoptosis, and abnormal development of the craniofacial cartilages. Inhibition of p53 rescues this skeletal phenotype, but not the underlying ribosome biogenesis defect, demonstrating an evolutionarily conserved control mechanism through which ribosome-impaired craniofacial cells are removed. Excessive activation of this mechanism impairs craniofacial development. Together, our findings reveal a novel requirement for Nol11 in craniofacial development, present the first frog model of a ribosomopathy, and provide further insight into the clinically important relationship between specific ribosome biogenesis proteins and craniofacial cell survival. PMID:25756904

  18. Functional coupling constrains craniofacial diversification in Lake Tanganyika cichlids

    PubMed Central

    Tsuboi, Masahito; Gonzalez-Voyer, Alejandro; Kolm, Niclas

    2015-01-01

    Functional coupling, where a single morphological trait performs multiple functions, is a universal feature of organismal design. Theory suggests that functional coupling may constrain the rate of phenotypic evolution, yet empirical tests of this hypothesis are rare. In fish, the evolutionary transition from guarding the eggs on a sandy/rocky substrate (i.e. substrate guarding) to mouthbrooding introduces a novel function to the craniofacial system and offers an ideal opportunity to test the functional coupling hypothesis. Using a combination of geometric morphometrics and a recently developed phylogenetic comparative method, we found that head morphology evolution was 43% faster in substrate guarding species than in mouthbrooding species. Furthermore, for species in which females were solely responsible for mouthbrooding the males had a higher rate of head morphology evolution than in those with bi-parental mouthbrooding. Our results support the hypothesis that adaptations resulting in functional coupling constrain phenotypic evolution. PMID:25948565

  19. Clinical guidelines for the management of craniofacial fibrous dysplasia

    PubMed Central

    2012-01-01

    Fibrous dysplasia (FD) is a non-malignant condition caused by post-zygotic, activating mutations of the GNAS gene that results in inhibition of the differentiation and proliferation of bone-forming stromal cells and leads to the replacement of normal bone and marrow by fibrous tissue and woven bone. The phenotype is variable and may be isolated to a single skeletal site or multiple sites and sometimes is associated with extraskeletal manifestations in the skin and/or endocrine organs (McCune-Albright syndrome). The clinical behavior and progression of FD may also vary, thereby making the management of this condition difficult with few established clinical guidelines. This paper provides a clinically-focused comprehensive description of craniofacial FD, its natural progression, the components of the diagnostic evaluation and the multi-disciplinary management, and considerations for future research. PMID:22640797

  20. Craniofacial Tissue Engineering by Stem Cells

    PubMed Central

    Mao, J.J.; Giannobile, W.V.; Helms, J.A.; Hollister, S.J.; Krebsbach, P.H.; Longaker, M.T.; Shi, S.

    2008-01-01

    Craniofacial tissue engineering promises the regeneration or de novo formation of dental, oral, and craniofacial structures lost to congenital anomalies, trauma, and diseases. Virtually all craniofacial structures are derivatives of mesenchymal cells. Mesenchymal stem cells are the offspring of mesenchymal cells following asymmetrical division, and reside in various craniofacial structures in the adult. Cells with characteristics of adult stem cells have been isolated from the dental pulp, the deciduous tooth, and the periodontium. Several craniofacial structures—such as the mandibular condyle, calvarial bone, cranial suture, and subcutaneous adipose tissue—have been engineered from mesenchymal stem cells, growth factor, and/or gene therapy approaches. As a departure from the reliance of current clinical practice on durable materials such as amalgam, composites, and metallic alloys, biological therapies utilize mesenchymal stem cells, delivered or internally recruited, to generate craniofacial structures in temporary scaffolding biomaterials. Craniofacial tissue engineering is likely to be realized in the foreseeable future, and represents an opportunity that dentistry cannot afford to miss. PMID:17062735

  1. Surgical options for complex craniofacial pain.

    PubMed

    Sharma, Mayur; Shaw, Andrew; Deogaonkar, Milind

    2014-10-01

    Complex craniofacial pain can be a challenging condition to manage both medically and surgically, but there is a resurgence of interest in the role of neurostimulation therapy. Surgical options for complex craniofacial pain syndromes include peripheral nerve/field stimulation, ganglion stimulation, spinal cord stimulation, dorsal nerve root entry zone lesioning, motor cortex stimulation, and deep brain stimulation. Peripheral nerve/field stimulation is rapidly being explored and is preferred by both patients and surgeons. Technological advances and improved understanding of the interactions of pain pathways with its affective component will widen the scope of neurostimulation therapy for craniofacial pain syndromes.

  2. Contribution of FGFR1 Variants to Craniofacial Variations in East Asians

    PubMed Central

    Yamaguchi, Tetsutaro; Tomita, Daisuke; Nakawaki, Takatoshi; Kim, Yong-Il; Hikita, Yu; Haga, Shugo; Takahashi, Masahiro; Nadim, Mohamed A.; Kawaguchi, Akira; Isa, Mutsumi; El-Kenany, Walid H.; El-Kadi, Abbadi A.; Park, Soo-Byung; Ishida, Hajime; Maki, Koutaro; Kimura, Ryosuke

    2017-01-01

    FGFR1 plays an important role in the development of the nervous system as well as the regulation of the skeletal development and bone homeostasis. Mutations in FGFR1 genes affect skull development, specifically suture and synchondrosis, resulting in craniosynostosis and facial abnormalities. We examined subjects with normal skull morphology for genetic polymorphisms that might be associated with normal craniofacial variations. Genomic DNA was obtained from 216 Japanese and 227 Korean subjects. Four FGFR1 SNPs, namely, rs881301, rs6996321, rs4647905, and rs13317, were genotyped. These SNPs were tested for association with craniofacial measurements obtained from lateral and posteroanterior cephalometries, in which principle component analysis was performed to compress the data of the craniofacial measurements. We observed that SNPs rs13317 and rs6996321 were correlated with the overall head size and midfacial development, indicating that FGFR1 SNPs played crucial roles in the normal variation of human craniofacial morphology. Subjects with the derived alleles of SNPs rs13317 and rs6996321 had a small face and a facial pattern associated with a retruded midface and relatively wide-set eyes. These facial features were similar to but were milder than those of individuals with Pfeiffer syndrome, which is caused by a dysfunctional mutation in FGFR1. PMID:28129408

  3. Elastic properties of external cortical bone in the craniofacial skeleton of the rhesus monkey.

    PubMed

    Wang, Qian; Dechow, Paul C

    2006-11-01

    Knowledge of elastic properties and of their variation in the cortical bone of the craniofacial skeleton is indispensable for creating accurate finite-element models to explore the biomechanics and adaptation of the skull in primates. In this study, we measured elastic properties of the external cortex of the rhesus monkey craniofacial skeleton, using an ultrasonic technique. Twenty-eight cylindrical cortical specimens were removed from each of six craniofacial skeletons of adult Macaca mulatta. Thickness, density, and a set of longitudinal and transverse ultrasonic velocities were measured on each specimen to allow calculation of the elastic properties in three dimensions, according to equations derived from Newton's second law and Hooke's law. The axes of maximum stiffness were determined by fitting longitudinal velocities measured along the perimeter of each cortical specimen to a sinusoidal function. Results showed significant differences in elastic properties between different functional areas of the rhesus cranium, and that many sites have a consistent orientation of maximum stiffness among specimens. Overall, the cortical bones of the rhesus monkey skull can be modeled as orthotropic in many regions, and as transversely isotropic in some regions, e.g., the supraorbital region. There are differences from human crania, suggesting that structural differences in skeletal form relate to differences in cortical material properties across species. These differences also suggest that we require more comparative data on elastic properties in primate craniofacial skeletons to explore effectively the functional significance of these differences, especially when these differences are elucidated through modeling approaches, such as finite-element modeling.

  4. Working with DICOM craniofacial images

    PubMed Central

    Grauer, Dan; Cevidanes, Lucia S. H.; Proffit, William R.

    2009-01-01

    The increasing use of cone-beam computed tomography (CBCT) requires changes in our diagnosis and treatment planning methods as well as additional training. The standard for digital computed tomography images is called digital imaging and communications in medicine (DICOM). In this article we discuss the following concepts: visualization of CBCT images in orthodontics, measurement in CBCT images, creation of 2-dimensional radiographs from DICOM files, segmentation engines and multimodal images, registration and superimposition of 3-dimensional (3D) images, special applications for quantitative analysis, and 3D surgical prediction. CBCT manufacturers and software companies are continually working to improve their products to help clinicians diagnose and plan treatment using 3D craniofacial images. PMID:19732681

  5. New developments in craniofacial surgery research.

    PubMed

    Mehrara, B J; Longaker, M T

    1999-09-01

    The recent explosion in our understanding of developmental biology and genetics has enhanced our understanding of craniofacial biology. While it is not possible to summarize all new developments in craniofacial research, this article will review three areas: fetal models and surgery for craniofacial disorders, the biology of distraction osteogenesis, and the molecular mechanisms of cranial suture fusion. Numerous models of craniofacial disorders have been described, including small, short gestation and large, long gestation. The benefits and shortcomings of each are discussed. In addition, we discuss recent studies investigating the molecular mechanisms of mandibular distraction osteogenesis. Finally, we present a review of recent advances in the understanding of mechanisms of craniosynostosis, with particular emphasis on the biology of programmed cranial suture fusion in rodents.

  6. Relationships between craniofacial pain and bruxism.

    PubMed

    Svensson, P; Jadidi, F; Arima, T; Baad-Hansen, L; Sessle, B J

    2008-07-01

    A still commonly held view in the literature and clinical practice is that bruxism causes pain because of overloading of the musculoskeletal tissue and craniofacial pain, on the other hand, triggers more bruxism. Furthermore, it is often believed that there is a dose-response gradient so that more bruxism (intensity, duration) leads to more overloading and pain. Provided the existence of efficient techniques to treat bruxism, it would be straightforward in such a simple system to target bruxism as the cause of pain and hence treat the pain. Of course, human biological systems are much more complex and therefore, it is no surprise that the relationship between bruxism and pain is far from being simple or even linear. Indeed, there are unexpected relationships, which complicate the establishment of adequate explanatory models. Part of the reason is the complexity of the bruxism in itself, which presents significant challenges related to operationalized criteria and diagnostic tools and underlying pathophysiology issues, which have been dealt with in other reviews in this issue. However, another important reason is the multifaceted nature of craniofacial pain. This review will address our current understanding of classification issues, epidemiology and neurobiological mechanisms of craniofacial pain. Experimental models of bruxism may help to further the understanding of the relationship between craniofacial pain and bruxism in addition to insights from intervention studies. The review will enable clinicians to understand the reasons why simple cause-effect relationships between bruxism and craniofacial pain are inadequate and the current implications for management of craniofacial pain.

  7. Integration of comprehensive 3D microCT and signaling analysis reveals differential regulatory mechanisms of craniofacial bone development

    PubMed Central

    Ho, Thach-Vu; Iwata, Junichi; Ho, Hoang Anh; Grimes, Weston C.; Park, Shery; Sanchez-Lara, Pedro A.; Chai, Yang

    2015-01-01

    Growth factor signaling regulates tissue-tissue interactions to control organogenesis and tissue homeostasis. Specifically, transforming growth factor beta (TGFβ) signaling plays a crucial role in the development of cranial neural crest (CNC) cell–derived bone, and loss of Tgfbr2 in CNC cells results in craniofacial skeletal malformations. Our recent studies indicate that non-canonical TGFβ signaling is activated whereas canonical TGFβ signaling is compromised in the absence of Tgfbr2 (in Tgfbr2fl/fl;Wnt1-Cre mice). A haploinsufficiency of Tgfbr1 (aka Alk5) (Tgfbr2fl/fl;Wnt1-Cre;Alk5fl/+) largely rescues craniofacial deformities in Tgfbr2 mutant mice by reducing ectopic non-canonical TGFβ signaling. However, the relative involvement of canonical and non-canonical TGFβ signaling in regulating specific craniofacial bone formation remains unclear. We compared the size and volume of CNC–derived craniofacial bones (frontal bone, premaxilla, maxilla, palatine bone, and mandible) from E18.5 control, Tgfbr2fl/fl;Wnt1-Cre, and Tgfbr2fl/fl;Wnt1-Cre;Alk5fl/+ mice. By analyzing three dimensional (3D) micro-computed tomography (microCT) images, we found that different craniofacial bones were restored to different degrees in Tgfbr2fl/fl;Wnt1-Cre;Alk5fl/+ mice. Our study provides comprehensive information on anatomical landmarks and the size and volume of each craniofacial bone, as well as insights into the extent that canonical and non-canonical TGFβ signaling cascades contribute to the formation of each CNC–derived bone. Our data will serve as an important resource for developmental biologists who are interested in craniofacial morphogenesis. PMID:25722190

  8. Computer vision and soft computing for automatic skull-face overlay in craniofacial superimposition.

    PubMed

    Campomanes-Álvarez, B Rosario; Ibáñez, O; Navarro, F; Alemán, I; Botella, M; Damas, S; Cordón, O

    2014-12-01

    Craniofacial superimposition can provide evidence to support that some human skeletal remains belong or not to a missing person. It involves the process of overlaying a skull with a number of ante mortem images of an individual and the analysis of their morphological correspondence. Within the craniofacial superimposition process, the skull-face overlay stage just focuses on achieving the best possible overlay of the skull and a single ante mortem image of the suspect. Although craniofacial superimposition has been in use for over a century, skull-face overlay is still applied by means of a trial-and-error approach without an automatic method. Practitioners finish the process once they consider that a good enough overlay has been attained. Hence, skull-face overlay is a very challenging, subjective, error prone, and time consuming part of the whole process. Though the numerical assessment of the method quality has not been achieved yet, computer vision and soft computing arise as powerful tools to automate it, dramatically reducing the time taken by the expert and obtaining an unbiased overlay result. In this manuscript, we justify and analyze the use of these techniques to properly model the skull-face overlay problem. We also present the automatic technical procedure we have developed using these computational methods and show the four overlays obtained in two craniofacial superimposition cases. This automatic procedure can be thus considered as a tool to aid forensic anthropologists to develop the skull-face overlay, automating and avoiding subjectivity of the most tedious task within craniofacial superimposition.

  9. Scales and Dermal Skeletal Histology of an Early Bony Fish Psarolepis romeri and Their Bearing on the Evolution of Rhombic Scales and Hard Tissues

    PubMed Central

    Qu, Qingming; Zhu, Min; Wang, Wei

    2013-01-01

    Recent discoveries of early bony fishes from the Silurian and earliest Devonian of South China (e.g. Psarolepis, Achoania, Meemannia, Styloichthys and Guiyu) have been crucial in understanding the origin and early diversification of the osteichthyans (bony fishes and tetrapods). All these early fishes, except Guiyu, have their dermal skeletal surface punctured by relatively large pore openings. However, among these early fishes little is known about scale morphology and dermal skeletal histology. Here we report new data about the scales and dermal skeletal histology of Psarolepis romeri, a taxon with important implications for studying the phylogeny of early gnathostomes and early osteichthyans. Seven subtypes of rhombic scales with similar histological composition and surface sculpture are referred to Psarolepis romeri. They are generally thick and show a faint antero-dorsal process and a broad peg-and-socket structure. In contrast to previously reported rhombic scales of osteichthyans, these scales bear a neck between crown and base as in acanthodian scales. Histologically, the crown is composed of several generations of odontodes and an irregular canal system connecting cylindrical pore cavities. Younger odontodes are deposited on older ones both superpositionally and areally. The bony tissues forming the keel of the scale are shown to be lamellar bone with plywood-like structure, whereas the other parts of the base are composed of pseudo-lamellar bone with parallel collagen fibers. The unique tissue combination in the keel (i.e., extrinsic Sharpey's fibers orthogonal to the intrinsic orthogonal sets of collagen fibers) has rarely been reported in the keel of other rhombic scales. The new data provide insights into the early evolution of rhombic (ganoid and cosmoid) scales in osteichthyans, and add to our knowledge of hard tissues of early vertebrates. PMID:23585902

  10. Reciprocal influence of masticatory apparatus, craniofacial structure and whole body homeostasis.

    PubMed

    Lee, Yong-Keun; Moon, Hyung-Joo

    2012-12-01

    There are evidences that the evolution into Homo erectus was partially induced by masticatory muscular dystrophy caused by a gene mutation, which in turn increased brain capacity and led to bipedalism. It is generally accepted that the morphology and function of mammalian skull are partially controlled by epigenetic mechanisms. Archeologic evidences support that the masticatory apparatus have influenced the mechanical stress distribution in hominin skull, and consequently changed craniofacial morphology and function. Even after evolution into H. erectus, alterations in food properties by civilization and cultural preferences have caused modification of human masticatory pattern and accordingly craniofacial structure. Since there are evidences that prehuman and human masticatory apparatus has been influenced the craniofacial and whole body morphology and function, this apparatus in turn might influence whole body homeostasis. Plausible reciprocal influencing mechanisms of the masticatory apparatus on the whole body homeostasis might be (1) direct mechanical influence on the craniofacial structure, (2) distortion of cerebrospinal fluid circulation, and/or (3) several neural/humoral routes. Based on these backgrounds, the hypothesis of the present study is that the morphology and function of masticatory apparatus influence the whole body homeostasis and these interactions are reciprocal. Therefore, human masticatory apparatus, at the present time, should be kept in its physiological status to maintain the whole body homeostasis. We recommend basic and clinical approaches to confirm this hypothesis.

  11. Photographic protocol for image acquisition in craniofacial microsomia

    PubMed Central

    2011-01-01

    Craniofacial microsomia (CFM) is a congenital condition associated with orbital, mandibular, ear, nerve, and soft tissue anomalies. We present a standardized, two-dimensional, digital photographic protocol designed to capture the common craniofacial features associated with CFM. PMID:22208766

  12. Craniofacial reconstruction evaluation by geodesic network.

    PubMed

    Zhao, Junli; Liu, Cuiting; Wu, Zhongke; Duan, Fuqing; Wang, Kang; Jia, Taorui; Liu, Quansheng

    2014-01-01

    Craniofacial reconstruction is to estimate an individual's face model from its skull. It has a widespread application in forensic medicine, archeology, medical cosmetic surgery, and so forth. However, little attention is paid to the evaluation of craniofacial reconstruction. This paper proposes an objective method to evaluate globally and locally the reconstructed craniofacial faces based on the geodesic network. Firstly, the geodesic networks of the reconstructed craniofacial face and the original face are built, respectively, by geodesics and isogeodesics, whose intersections are network vertices. Then, the absolute value of the correlation coefficient of the features of all corresponding geodesic network vertices between two models is taken as the holistic similarity, where the weighted average of the shape index values in a neighborhood is defined as the feature of each network vertex. Moreover, the geodesic network vertices of each model are divided into six subareas, that is, forehead, eyes, nose, mouth, cheeks, and chin, and the local similarity is measured for each subarea. Experiments using 100 pairs of reconstructed craniofacial faces and their corresponding original faces show that the evaluation by our method is roughly consistent with the subjective evaluation derived from thirty-five persons in five groups.

  13. Distraction Osteogenesis of the Craniofacial Skeleton.

    PubMed

    Yu, Jack C.; Fearon, Jeffrey; Havlik, Robert J.; Buchman, Steve R.; Polley, John W.

    2004-07-01

    LEARNING OBJECTIVES:: After studying this article, the participant should be able to: 1. Review the biomechanical principles and pertinent cellular and molecular biology of distraction osteogenesis of the craniofacial skeleton. 2. Describe the clinical indications and applications of distraction osteogenesis of the craniofacial skeleton. 3. Describe maxillary, mandibular, midface, and calvarial procedures in distraction osteogenesis. 4. Discuss the clinical outcomes and complications of distraction osteogenesis of the craniofacial skeleton.The year 2002 marked the end of the first decade in clinical distraction osteogenesis of the craniofacial skeleton. In this short period, its application has increased exponentially. More than 3000 cases have been performed according to a recent survey, and more than 700 articles have been written on this subject in the MEDLINE database since 1996. It is a powerful surgical tool and enables surgeons to achieve results not previously attainable. Despite all this, distraction osteogenesis is practiced by only a small number of plastic surgeons. This article reviews the biomechanical principles; the pertinent cellular and molecular biology; and the clinical indications, applications, controversies, and complications of distraction osteogenesis of the craniofacial skeleton.

  14. Distraction osteogenesis in craniofacial surgery: a review.

    PubMed

    Tavakoli, K; Stewart, K J; Poole, M D

    1998-01-01

    Distraction osteogenesis is a technique of new bone formation by the gradual separation of bony fragments. The method, although initially developed for limb lengthening, is now being applied in the treatment of craniofacial deformities. A number of principles have been established through careful scientific study to guide clinical practice, such as the ideal rate and rhythm of distraction, the need for periosteal preservation during bone division, a "latent period" of neutral fixation before, and a "consolidation period" after distraction. The technique is being applied in craniofacial surgery particularly for mandibular deformities and offers considerable advantages over previous methods such as osteotomy and inlay bone grafting. Donor site morbidity is avoided, the investing soft tissue envelope is concurrently expanded, and the magnitude of the procedure is less. However, the technique is still in its infancy and requires further modification and refinement before widespread acceptance as a treatment in mainstream craniofacial surgery. Problems with cutaneous scarring and socially undesirable external hardware, particularly in the pediatric population, have led to the emergence of intraoral miniature devices, with the ultimate goal of development of a multiplanar internal autodistractor. Furthermore, many principles well established in leg lengthening, such as the rate and rhythm of distraction, need to be reexamined and the parameters redefined with particular reference to the craniofacial skeleton. Distraction osteogenesis has an expanding role in craniofacial surgery.

  15. Craniofacial neurofibromatosis: treatment of the midface deformity.

    PubMed

    Singhal, Dhruv; Chen, Yi-Chieh; Tsai, Yueh-Ju; Yu, Chung-Chih; Chen, Hung Chang; Chen, Yu-Ray; Chen, Philip Kuo-Ting

    2014-07-01

    Craniofacial Neurofibromatosis is a benign but devastating disease. While the most common location of facial involvement is the orbito-temporal region, patients often present with significant mid-face deformities. We reviewed our experience with Craniofacial Neurofibromatosis from June 1981 to June 2011 and included patients with midface soft tissue deformities defined as gross alteration of nasal or upper lip symmetry. Data reviewed included the medical records and photobank. Over 30 years, 52 patients presented to and underwent surgical management for Craniofacial Neurofibromatosis at the Chang Gung Craniofacial Center. 23 patients (43%) demonstrated gross mid-facial deformities at initial evaluation. 55% of patients with lip deformities and 28% of patients with nasal deformities demonstrated no direct tumour involvement. The respective deformity was solely due to secondary gravitational effects from neurofibromas of the cheek subunit. Primary tumour infiltration of the nasal and/or labial subunits was treated with excision followed by various methods of reconstruction including lower lateral cartilage repositioning, forehead flaps, free flaps, and/or oral commissure suspension. Soft tissue deformities of the midface are very common in patients with Craniofacial Neurofibromatosis and profoundly affect overall aesthetic outcomes. Distinguishing primary from secondary involvement of the midface assists in surgical decision making.

  16. Stature estimation from craniofacial anthropometry in Bangladeshi Garo adult females.

    PubMed

    Akhter, Z; Banu, L A; Alam, M M; Rahman, M F

    2012-07-01

    Estimation of stature is an important tool in forensic examination especially in unknown, highly decomposed, fragmentary and mutilated human remains. When the evidences are skeletal remains; forensic anthropology has put forward means to estimate the stature from the skeletal and even from fragmentary bones. Sometimes, craniofacial remains are brought in for forensic and postmortem examination. In such a situation, estimation of stature becomes equally important along with other parameters like age, sex, race, etc. Today, anthropometry plays an important role in industrial design, clothing design, ergonomics and architecture where statistical data about the distribution of body dimensions in the population are used to optimize products. It is well established that a single standard of craniofacial aesthetics is not appropriate for application to diverse racial and ethnic groups. Bangladesh is a country not only for the Bengalis; the country harbours many cultures and people of different races because of the colonial rules of the past regimes. Like other ethnic groups, the Garos (study subjects) have their own set of language, social structure, cultures and economic activities and religious values. In the above context, the present study was attempted to establish ethnic specific anthropometric data for the Bangladeshi Garo adult females. The study also attempted to find out the correlation of the craniofacial dimensions with stature and to determine multiplication factors. The study was an observational, cross-sectional and primarily descriptive in nature with some analytical components. The study was carried out with a total number of one hundred Garo adult females, aged between 25-45 years. Craniofacial dimension such as head circumference, head length, facial height from 'nasion' to 'gnathion', bizygomatic breadth and stature were measured using a measuring tape, spreading caliper, steel plate and steel tape and sliding caliper. The data were then statistically

  17. The Skeletal Proteome of the Coral Acropora millepora: The Evolution of Calcification by Co-Option and Domain Shuffling

    PubMed Central

    Ramos-Silva, Paula; Kaandorp, Jaap; Huisman, Lotte; Marie, Benjamin; Zanella-Cléon, Isabelle; Guichard, Nathalie; Miller, David J.; Marin, Frédéric

    2013-01-01

    In corals, biocalcification is a major function that may be drastically affected by ocean acidification (OA). Scleractinian corals grow by building up aragonitic exoskeletons that provide support and protection for soft tissues. Although this process has been extensively studied, the molecular basis of biocalcification is poorly understood. Notably lacking is a comprehensive catalog of the skeleton-occluded proteins—the skeletal organic matrix proteins (SOMPs) that are thought to regulate the mineral deposition. Using a combination of proteomics and transcriptomics, we report the first survey of such proteins in the staghorn coral Acropora millepora. The organic matrix (OM) extracted from the coral skeleton was analyzed by mass spectrometry and bioinformatics, enabling the identification of 36 SOMPs. These results provide novel insights into the molecular basis of coral calcification and the macroevolution of metazoan calcifying systems, whereas establishing a platform for studying the impact of OA at molecular level. Besides secreted proteins, extracellular regions of transmembrane proteins are also present, suggesting a close control of aragonite deposition by the calicoblastic epithelium. In addition to the expected SOMPs (Asp/Glu-rich, galaxins), the skeletal repertoire included several proteins containing known extracellular matrix domains. From an evolutionary perspective, the number of coral-specific proteins is low, many SOMPs having counterparts in the noncalcifying cnidarians. Extending the comparison with the skeletal OM proteomes of other metazoans allowed the identification of a pool of functional domains shared between phyla. These data suggest that co-option and domain shuffling may be general mechanisms by which the trait of calcification has evolved. PMID:23765379

  18. The skeletal proteome of the coral Acropora millepora: the evolution of calcification by co-option and domain shuffling.

    PubMed

    Ramos-Silva, Paula; Kaandorp, Jaap; Huisman, Lotte; Marie, Benjamin; Zanella-Cléon, Isabelle; Guichard, Nathalie; Miller, David J; Marin, Frédéric

    2013-09-01

    In corals, biocalcification is a major function that may be drastically affected by ocean acidification (OA). Scleractinian corals grow by building up aragonitic exoskeletons that provide support and protection for soft tissues. Although this process has been extensively studied, the molecular basis of biocalcification is poorly understood. Notably lacking is a comprehensive catalog of the skeleton-occluded proteins-the skeletal organic matrix proteins (SOMPs) that are thought to regulate the mineral deposition. Using a combination of proteomics and transcriptomics, we report the first survey of such proteins in the staghorn coral Acropora millepora. The organic matrix (OM) extracted from the coral skeleton was analyzed by mass spectrometry and bioinformatics, enabling the identification of 36 SOMPs. These results provide novel insights into the molecular basis of coral calcification and the macroevolution of metazoan calcifying systems, whereas establishing a platform for studying the impact of OA at molecular level. Besides secreted proteins, extracellular regions of transmembrane proteins are also present, suggesting a close control of aragonite deposition by the calicoblastic epithelium. In addition to the expected SOMPs (Asp/Glu-rich, galaxins), the skeletal repertoire included several proteins containing known extracellular matrix domains. From an evolutionary perspective, the number of coral-specific proteins is low, many SOMPs having counterparts in the noncalcifying cnidarians. Extending the comparison with the skeletal OM proteomes of other metazoans allowed the identification of a pool of functional domains shared between phyla. These data suggest that co-option and domain shuffling may be general mechanisms by which the trait of calcification has evolved.

  19. Fish is Fish: the use of experimental model species to reveal causes of skeletal diversity in evolution and disease

    PubMed Central

    Harris, M. P.; Henke, K.; Hawkins, M. B.; Witten, P. E.

    2014-01-01

    Summary Fishes are wonderfully diverse. This variety is a result of the ability of ray-finned fishes to adapt to a wide range of environments, and has made them more specious than the rest of vertebrates combined. With such diversity it is easy to dismiss comparisons between distantly related fishes in efforts to understand the biology of a particular fish species. However, shared ancestry and the conservation of developmental mechanisms, morphological features and physiology provide the ability to use comparative analyses between different organisms to understand mechanisms of development and physiology. The use of species that are amenable to experimental investigation provides tools to approach questions that would not be feasible in other ‘non-model’ organisms. For example, the use of small teleost fishes such as zebrafish and medaka has been powerful for analysis of gene function and mechanisms of disease in humans, including skeletal diseases. However, use of these fish to aid in understanding variation and disease in other fishes has been largely unexplored. This is especially evident in aquaculture research. Here we highlight the utility of these small laboratory fishes to study genetic and developmental factors that underlie skeletal malformations that occur under farming conditions. We highlight several areas in which model species can serve as a resource for identifying the causes of variation in economically important fish species as well as to assess strategies to alleviate the expression of the variant phenotypes in farmed fish. We focus on genetic causes of skeletal deformities in the zebrafish and medaka that closely resemble phenotypes observed both in farmed as well as natural populations of fishes. PMID:25221374

  20. Craniofacial ontogeny in Centrosaurus apertus

    PubMed Central

    Tumarkin-Deratzian, Allison R.

    2014-01-01

    Centrosaurus apertus, a large bodied ceratopsid from the Late Cretaceous of North America, is one of the most common fossils recovered from the Belly River Group. This fossil record shows a wide diversity in morphology and size, with specimens ranging from putative juveniles to fully-grown individuals. The goal of this study was to reconstruct the ontogenetic changes that occur in the craniofacial skeleton of C. apertus through a quantitative cladistic analysis. Forty-seven cranial specimens were independently coded in separate data matrices for 80 hypothetical multistate growth characters and 130 hypothetical binary growth characters. Both analyses yielded the max-limit of 100,000 most parsimonious saved trees and the strict consensus collapsed into large polytomies. In order to reduce conflict resulting from missing data, fragmentary individuals were removed and the analyses were rerun. Among both the complete and the reduced data sets the multistate analyses recovered a shorter tree with a higher consistency index (CI) than the additive binary data sets. The arrangement within the trees shows a progression of specimens with a recurved nasal horn in the least mature individuals, followed by specimens with straight nasal horns in relatively more mature individuals, and finally specimens with procurved nasal horns in the most mature individuals. The most mature individuals are further characterized by the reduction of the cranial horn ornamentations in late growth stages, a trait that similarly occurs in the growth of other dinosaurs. Bone textural changes were found to be sufficient proxies for relative maturity in individuals that have not reached adult size. Additionally, frill length is congruent with relative maturity status and makes an acceptable proxy for ontogenetic status, especially in smaller individuals. In adult-sized individuals, the fusion of the epiparietals and episquamosals and the orientation of the nasal horn are the best indicators of relative

  1. Craniofacial ontogeny in Centrosaurus apertus.

    PubMed

    Frederickson, Joseph A; Tumarkin-Deratzian, Allison R

    2014-01-01

    Centrosaurus apertus, a large bodied ceratopsid from the Late Cretaceous of North America, is one of the most common fossils recovered from the Belly River Group. This fossil record shows a wide diversity in morphology and size, with specimens ranging from putative juveniles to fully-grown individuals. The goal of this study was to reconstruct the ontogenetic changes that occur in the craniofacial skeleton of C. apertus through a quantitative cladistic analysis. Forty-seven cranial specimens were independently coded in separate data matrices for 80 hypothetical multistate growth characters and 130 hypothetical binary growth characters. Both analyses yielded the max-limit of 100,000 most parsimonious saved trees and the strict consensus collapsed into large polytomies. In order to reduce conflict resulting from missing data, fragmentary individuals were removed and the analyses were rerun. Among both the complete and the reduced data sets the multistate analyses recovered a shorter tree with a higher consistency index (CI) than the additive binary data sets. The arrangement within the trees shows a progression of specimens with a recurved nasal horn in the least mature individuals, followed by specimens with straight nasal horns in relatively more mature individuals, and finally specimens with procurved nasal horns in the most mature individuals. The most mature individuals are further characterized by the reduction of the cranial horn ornamentations in late growth stages, a trait that similarly occurs in the growth of other dinosaurs. Bone textural changes were found to be sufficient proxies for relative maturity in individuals that have not reached adult size. Additionally, frill length is congruent with relative maturity status and makes an acceptable proxy for ontogenetic status, especially in smaller individuals. In adult-sized individuals, the fusion of the epiparietals and episquamosals and the orientation of the nasal horn are the best indicators of relative

  2. The craniofacial complex in 47, XXX females.

    PubMed

    Krusinskiene, Viktorija; Krusinskie, Viktorija; Alvesalo, Lassi; Sidlauskas, Antanas

    2005-08-01

    A study of the craniofacial complex in four 47, XXX Finnish females, or females with an extra X chromosome, was carried out using cephalometric analysis comprising linear and angular measurements. The lengths of the anterior and posterior cranial bases, the calvarium, mandibular ramus and posterior and upper anterior face heights were found to be significantly shorter than in female controls, while the angles between the foraminal and clival planes, the mandibular plane and cranial base, the maxillary and occlusal planes, the maxillary and mandibular planes and the foraminal and mandibular planes, and also the gonial angle, were significantly enlarged. The present findings of reduced linear measurements, together with the results of studies on the craniofacial complex of 47, XXY and 47, XYY males, suggest dimensional variation between these groups from the promoting effect of an extra Y chromosome and the retarding effect of an extra X chromosome on craniofacial growth.

  3. Ovine craniofacial malformation: a morphometrical study.

    PubMed

    Eriksen, T; Kuiper, H; Pielmeier, R; Ganter, M; Distl, O; Staszyk, C

    2012-12-01

    Craniofacial malformation in 64 sheep was phenotypically described as mandibular distoclusion. Digital radiographs were examined in order to determine the degree of morphological changes in certain bones of the skull. Therefore, laterolateral standardised digital radiographs were used to determine anatomic reference points. Subsequently, five reference lines were defined and 16 linear and seven angular measurements were determined to describe malformations in the bones of the skull. Statistical analysis revealed a significant shortening of the rostral part of the corpus mandibulae and of the ramus mandibulae. However, the molar part of the mandible remained unchanged. These morphological changes caused premolar and molar malocclusion. No further craniofacial abnormalities, such as an elongation of the maxilla or of the incisive bone, were identified. In conclusion, the phenotypically observed mandibular distoclusion is caused by a shortening of specific parts of the mandible. This form of ovine craniofacial malformation is therefore best described as brachygnathia inferior.

  4. Development of the Sea Star Echinaster (Othilia) brasiliensis, with Inference on the Evolution of Development and Skeletal Plates in Asteroidea.

    PubMed

    Lopes, Elinia Medeiros; Ventura, Carlos Renato Rezende

    2016-02-01

    We describe the development and juvenile morphology of the sea star Echinaster (Othilia) brasiliensis in order to explore evolutionary developmental modes and skeletal homologies. This species produces large, buoyant eggs (0.6 ± 0.03 mm diameter), and has a typical lecithotrophic brachiolaria larva. The planktonic brachiolaria larva is formed 2-4 days after fertilization, when cilia cover the surface. Early juveniles are completely formed by 18 days of age. Initial growth is supported by maternal nutrients while the stomach continues to develop until 60 days after fertilization, when juveniles reach about 0.5 mm of radius length. The madreporite was observed 88 days after fertilization. In the youngest juvenile skeleton of E. (O.) brasiliensis, the madreporite and odontophore are homologous to those of other recent, non-paxillosid asteroids, and follow the Late Madreporic Mode. The emergence of plates related to the ambulacral system follows the Ocular Plate Rule. The development and juvenile skeletal morphology of this species are similar to those of the few other studied species in the genus Echinaster. This study corroborates the notion that the mode of development--including a short-lived lecithotrophic brachiolaria larva--in all Echinaster species shares a similar pattern that may be conserved throughout the evolutionary history of the group.

  5. Craniofacial Reconstruction Using Rational Cubic Ball Curves

    PubMed Central

    Majeed, Abdul; Mt Piah, Abd Rahni; Gobithaasan, R. U.; Yahya, Zainor Ridzuan

    2015-01-01

    This paper proposes the reconstruction of craniofacial fracture using rational cubic Ball curve. The idea of choosing Ball curve is based on its robustness of computing efficiency over Bezier curve. The main steps are conversion of Digital Imaging and Communications in Medicine (Dicom) images to binary images, boundary extraction and corner point detection, Ball curve fitting with genetic algorithm and final solution conversion to Dicom format. The last section illustrates a real case of craniofacial reconstruction using the proposed method which clearly indicates the applicability of this method. A Graphical User Interface (GUI) has also been developed for practical application. PMID:25880632

  6. Cranio-facial remodeling in domestic dogs is associated with changes in larynx position.

    PubMed

    Plotsky, Kyle; Rendall, Drew; Chase, Kevin; Riede, Tobias

    2016-06-01

    The hyo-laryngeal complex is a multi-segmented structure integrating the oral and pharyngeal cavities and thus a variety of critical functions related to airway control, feeding, and vocal communication. Currently, we lack a complete understanding of how the hyoid complex, and the functions it mediates, can also be affected by changes in surrounding cranio-facial dimensions. Here, we explore these relationships in a breed of domestic dog, the Portuguese Water Dog, which is characterized by strong cranio-facial variation. We used radiographic images of the upper body and head of 55 adult males and 51 adult females to obtain detailed measures of cranio-facial variation and hyoid anatomy. Principal components analysis revealed multiple orthogonal dimensions of cranio-facial variation, some of which were associated with significant differences in larynx position: the larynx occupied a more descended position in individuals with shorter, broader faces than in those with longer, narrower faces. We then tested the possibility that caudal displacement of the larynx in brachycephalic individuals might reflect a degree of tongue crowding resulting from facial shortening and reduction of oral and pharyngeal spaces. A cadaver sample was used to obtain detailed measurements of constituent bones of the hyoid skeleton and of the tongue body, and their relationships to cranio-facial size and shape and overall body size supported the tongue-crowding hypothesis. Considering the presence of descended larynges in numerous mammalian taxa, our findings establish an important precedent for the possibility that laryngeal descent can be initiated, and even sustained, in part in response to remodeling of the face and cranium for selective pressures unrelated to vocal production. These integrated changes could also have been involved in hominin evolution, where the different laryngeal positions in modern humans compared with nonhuman primates have been traditionally linked to the evolution

  7. Craniofacial characteristics of successful responders to mandibular advancement splint therapy: a pilot study.

    PubMed

    Seehra, Jadbinder; Sherriff, Martyn; Winchester, Lindsay

    2014-04-01

    Cephalometric variables that can be used to identify patients with obstructive sleep apnoea who are suitable for mandibular advancement splints and surgical maxillomandibular advancement are lacking. The aim of this pilot study was to describe the craniofacial characteristics of patients whose symptoms of obstructive sleep apnoea were successfully treated with mandibular advancement splints and who were subsequently considered for maxillomandibular advancement. We retrospectively compared the craniofacial characteristics of our patients with data from 2 previously published studies. There were significant differences between the 2 groups for ANB (p<0.000), overjet (p<0.0001), Go-Me (p<0.0002), and ANS-PNS (p<0.0009). Patients, whose symptoms improve with the use of mandibular advancement splints and are potential candidates for maxillomandibular advancement, may have unique craniofacial features consisting of bimaxillary retrusion characterised by a shorter maxilla and mandible, and a greater class II skeletal tendency. The results of this study should be viewed as a pilot. Further research is required.

  8. Sensitivity analysis of a validated subject-specific finite element model of the human craniofacial skeleton.

    PubMed

    Szwedowski, T D; Fialkov, J; Whyne, C M

    2011-01-01

    Developing a more complete understanding of the mechanical response of the craniofacial skeleton (CFS) to physiological loads is fundamental to improving treatment for traumatic injuries, reconstruction due to neoplasia, and deformities. Characterization of the biomechanics of the CFS is challenging due to its highly complex structure and heterogeneity, motivating the utilization of experimentally validated computational models. As such, the objective of this study was to develop, experimentally validate, and parametrically analyse a patient-specific finite element (FE) model of the CFS to elucidate a better understanding of the factors that are of intrinsic importance to the skeletal structural behaviour of the human CFS. An FE model of a cadaveric craniofacial skeleton was created from subject-specific computed tomography data. The model was validated based on bone strain measurements taken under simulated physiological-like loading through the masseter and temporalis muscles (which are responsible for the majority of craniofacial physiologic loading due to mastication). The baseline subject-specific model using locally defined cortical bone thicknesses produced the strongest correlation to the experimental data (r2 = 0.73). Large effects on strain patterns arising from small parametric changes in cortical thickness suggest that the very thin bony structures present in the CFS are crucial to characterizing the local load distribution in the CFS accurately.

  9. Family Members as Participants on Craniofacial Teams.

    ERIC Educational Resources Information Center

    Andrews, James; Seaver, Earl; Stevens, George; Whiteley, Joseph

    1998-01-01

    Family members (N=83) who participated in professional team staffing concerning treatment plans for their child with a craniofacial difference (typically, cleft lip and/or palate) were surveyed. Ninety-seven percent of respondents said they would choose to meet with the team on their next visit to the clinic. The role of early interventionists on…

  10. Discrimination among adults with craniofacial conditions.

    PubMed

    Roberts, Rachel M

    2014-01-01

    The primary goal of this study was to establish the level of perceived discrimination experienced by adults with congenital craniofacial conditions in Australia and to examine predictors of discrimination. Specifically, this study tested whether social support mediates the relationship between discrimination and health. Adults (n = 93) who had been treated at the Australian Craniofacial Unit, Women's and Children's Hospital, Adelaide for congenital craniofacial conditions (not including cleft lip and/or palate) completed questionnaires examining satisfaction with life, quality of life, anxiety and depression, self-esteem, satisfaction with social support, and satisfaction with appearance. A substantial minority of adults with congenital craniofacial conditions reported that they experience discrimination almost every day in a range of areas. Higher reports of discrimination were related to older age, being male, and less education. Other factors related to higher discrimination included lower levels of satisfaction with life, self-esteem, satisfaction with appearance and mental quality of life, as well as higher levels of anxiety and depression. Social support partially mediated the relationship between discrimination and mental health outcomes. The current study shows that discrimination experiences continue into adulthood confirming the importance of ensuring patients are well supported both by psychosocial services as well as within their own social support networks.

  11. Translational genetics: advancing fronts for craniofacial health.

    PubMed

    D'Souza, R N; Dunnwald, M; Dunnvald, M; Frazier-Bowers, S; Polverini, P J; Wright, J T; de Rouen, T; Vieira, A R

    2013-12-01

    Scientific opportunities have never been better than today! The completion of the Human Genome project has sparked hope and optimism that cures for debilitating conditions can be achieved and tailored to individuals and communities. The availability of reference genome sequences and genetic variations as well as more precise correlations between genotype and phenotype have facilitated the progress made in finding solutions to clinical problems. While certain craniofacial and oral diseases previously deemed too difficult to tackle have benefited from basic science and technological advances over the past decade, there remains a critical need to translate the fruits of several decades' worth of basic and clinical research into tangible therapies that can benefit patients. The fifth Annual Fall Focused Symposium, "Translational Genetics - Advancing Fronts for Craniofacial Health", was created by the American Association for Dental Research (AADR) to foster its mission to advance interdisciplinary research that is directed toward improving oral health. The symposium showcased progress made in identifying molecular targets that are potential therapeutics for common and rare dental diseases and craniofacial disorders. Speakers focused on translational and clinical applications of their research and, where applicable, on strategies for new technologies and therapeutics. The critical needs to transfer new knowledge to the classroom and for further investment in the field were also emphasized. The symposium underscored the importance of basic research, chairside clinical observations, and population-based studies in driving the new translational connections needed for the development of cures for the most common and devastating diseases involving the craniofacial complex.

  12. EARLY CRANIOFACIAL DEVELOPMENT: LIFE AMONG THE SIGNALS

    EPA Science Inventory

    Early Craniofacial Development: Life Among the Signals. Sid Hunter and Keith Ward. Reproductive Toxicology Division, NHEERL, US EPA, RTP, NC, 27711

    Haloacetic acids (HAA) are chemicals formed during drinking water disinfection and present in finished tap water. Exposure o...

  13. Psychosocial adjustment and craniofacial malformations in childhood.

    PubMed

    Pertschuk, M J; Whitaker, L A

    1985-02-01

    Forty-three children between the ages of 6 and 13 years with congenital facial anomalies underwent psychosocial evaluation prior to surgery. Also evaluated were healthy children matched to the craniofacial subjects by sex, age, intelligence, and economic background. Relative to this comparison group, the craniofacial children were found to have poorer self-concept, greater anxiety at the time of evaluation, and more introversion. Parents of the craniofacial children noted more frequent negative social encounters for their children and more hyperactive behavior at home. Teachers reported more problematic classroom behavior. Examination of these results revealed craniofacial malformations to be associated with psychosocial limitations rather than marked deficits. These children tended to function less well than the comparison children, but with few exceptions, they were not functioning in a psychosocially deviant range. Explanations for the observed circumscribed impact of facial deformity include the use of denial as a coping mechanism, possible diminished significance of appearance for younger children, and the restricted environment experienced by most of the subjects. It can be predicted that time would render these protective influences ineffective, so that adolescent and young adult patients could be at far greater psychosocial risk.

  14. Injectable Biomaterials for Regenerating Complex Craniofacial Tissues**

    PubMed Central

    Kretlow, James D.; Young, Simon; Klouda, Leda; Wong, Mark; Mikos, Antonios G.

    2009-01-01

    Engineering complex tissues requires a precisely formulated combination of cells, spatiotemporally released bioactive factors, and a specialized scaffold support system. Injectable materials, particularly those delivered in aqueous solution, are considered ideal delivery vehicles for cells and bioactive factors and can also be delivered through minimally invasive methods and fill complex 3D shapes. In this review, we examine injectable materials that form scaffolds or networks capable of both replacing tissue function early after delivery and supporting tissue regeneration over a time period of weeks to months. The use of these materials for tissue engineering within the craniofacial complex is challenging but ideal as many highly specialized and functional tissues reside within a small volume in the craniofacial structures and the need for minimally invasive interventions is desirable due to aesthetic considerations. Current biomaterials and strategies used to treat craniofacial defects are examined, followed by a review of craniofacial tissue engineering, and finally an examination of current technologies used for injectable scaffold development and drug and cell delivery using these materials. PMID:19750143

  15. A new autosomal dominant craniofacial deafness syndrome.

    PubMed

    Kassutto, S; Kassutto, Z; Ben-Ami, T; Goodman, R M

    1987-11-01

    A Jewish family is reported in which the proband and her father had congenital hearing loss and unusual facies consisting of facial asymmetry, temporal alopecia with frontal bossing, a broad nasal root and small nasal alae. In addition, both were born with a short frenulum of the tongue. We believe these findings represent a new autosomal dominant deafness syndrome with distinct craniofacial features.

  16. The Nervous System Orchestrates and Integrates Craniofacial Development: A Review

    PubMed Central

    Adameyko, Igor; Fried, Kaj

    2016-01-01

    Development of a head is a dazzlingly complex process: a number of distinct cellular sources including cranial ecto- and endoderm, mesoderm and neural crest contribute to facial and other structures. In the head, an extremely fine-tuned developmental coordination of CNS, peripheral neural components, sensory organs and a musculo-skeletal apparatus occurs, which provides protection and functional integration. The face can to a large extent be considered as an assembly of sensory systems encased and functionally fused with appendages represented by jaws. Here we review how the developing brain, neurogenic placodes and peripheral nerves influence the morphogenesis of surrounding tissues as a part of various general integrative processes in the head. The mechanisms of this impact, as we understand it now, span from the targeted release of the morphogens necessary for shaping to providing a niche for cellular sources required in later development. In this review we also discuss the most recent findings and ideas related to how peripheral nerves and nerve-associated cells contribute to craniofacial development, including teeth, during the post- neural crest period and potentially in regeneration. PMID:26924989

  17. Scanning Electron Microscopy And Data Digitization Of Craniofacial Growth

    NASA Astrophysics Data System (ADS)

    Rice, Robert W.; Oyen, Ordean J.; Walker, Alan C.

    1980-07-01

    The scanning electron microscope (SEM), combining high resolution and large depth of focus, affords detailed observation of surface microstructure in a three-dimensional perspective. It also allows large specimen dimensions and avoids the processing and sectioning limitations of light and transmission electron microscopic procedures. For these reasons the SEM is ideally suited for analyses of bone, a rigid tissue whose surface topography and internal architecture accurately reflect the developmental, metabolic and mechanical influences exerted upon it. Furthermore, SEM photomicrographs are compatible with devices for quantification, mathematical manipulation and graphic reconstruction of the image. Features of a photo may be traced with a stylus on the electromagnetically activated surface of a data digitizer, which converts the outlined path to x and y axis coordinates. Interfaced with a programmed calculator these data undergo algebraic and geometrical computation and may be stored for statistical analyses. Alternatively, stereopairs of micrograph transparencies may be utilized in micro-stereophotogrammetric procedures in which x, y and z axis coordinates are generated for selected morphologic points. Our research concerns spatiotemporal interrelationships of primate craniofacial growth as evidenced by changes in the skeletal gross morphology and microanatomy of the orbital region, jaws and teeth during their growth and development. Applications of SEM and digitization techniques to these studies and an evaluation of the derived data will be presented.

  18. Unexpected skeletal histology of an ichthyosaur from the Middle Jurassic of Patagonia: implications for evolution of bone microstructure among secondary aquatic tetrapods.

    PubMed

    Talevi, Marianella; Fernández, Marta S

    2012-03-01

    During the Mesozoic, one of the most significant evolutionary processes was the secondary adaptation of tetrapods to life in water. Several non-related lineages invaded from the terrestrial realms and from the oceans of the entire world. Among these lineages, ichthyosaurs were particularly successful. Advance parvipelvian ichthyosaurs were the first tetrapods to evolve a fish-shaped body profile. The deep skeletal modifications of their bodies, as well as their biology, depict advance ichthyosaurs as the paradigm of secondary adaptation of reptiles to marine life. Functional inferences point to them as off-shore cruising forms, similar to a living tuna, and some of them were capable of deep diving. Bone histology of some genera such as Temnodontosaurus, Stenopterygius, Ichthyosaurus, and Caypullisaurus, characterized by overall cancellous bone, is consistent with the idea of a fish-shaped ichthyosaurs as fast and far cruisers. Here, we provide histological examination of the ribs of the Middle Jurassic parvipelvian Mollesaurus. Contrasting with the bone histology of other parvipelvian, Mollesaurus ribs are characterized by a compact and thick cortex. Our data indicate that the rib cage was heavy and suggest that not all advanced ichthyosaurs were fast cruisers. The compact and dense ribs in these parvipelvian show that advance ichthyosaurs were ecologically more diverse than previously thought and that the lightening of the skeleton reversed, as also occurred in the evolution of cetacean, at least once along the evolutionary history of ichthyosaurs.

  19. Unexpected skeletal histology of an ichthyosaur from the Middle Jurassic of Patagonia: implications for evolution of bone microstructure among secondary aquatic tetrapods

    NASA Astrophysics Data System (ADS)

    Talevi, Marianella; Fernández, Marta S.

    2012-03-01

    During the Mesozoic, one of the most significant evolutionary processes was the secondary adaptation of tetrapods to life in water. Several non-related lineages invaded from the terrestrial realms and from the oceans of the entire world. Among these lineages, ichthyosaurs were particularly successful. Advance parvipelvian ichthyosaurs were the first tetrapods to evolve a fish-shaped body profile. The deep skeletal modifications of their bodies, as well as their biology, depict advance ichthyosaurs as the paradigm of secondary adaptation of reptiles to marine life. Functional inferences point to them as off-shore cruising forms, similar to a living tuna, and some of them were capable of deep diving. Bone histology of some genera such as Temnodontosaurus, Stenopterygius, Ichthyosaurus, and Caypullisaurus, characterized by overall cancellous bone, is consistent with the idea of a fish-shaped ichthyosaurs as fast and far cruisers. Here, we provide histological examination of the ribs of the Middle Jurassic parvipelvian Mollesaurus. Contrasting with the bone histology of other parvipelvian, Mollesaurus ribs are characterized by a compact and thick cortex. Our data indicate that the rib cage was heavy and suggest that not all advanced ichthyosaurs were fast cruisers. The compact and dense ribs in these parvipelvian show that advance ichthyosaurs were ecologically more diverse than previously thought and that the lightening of the skeleton reversed, as also occurred in the evolution of cetacean, at least once along the evolutionary history of ichthyosaurs.

  20. The craniofacial team and the Navajo patient.

    PubMed

    Smoot, E C; Kucan, J O; Cope, J S; Aase, J M

    1988-10-01

    The craniofacial team at the University of New Mexico Medical Center in Albuquerque, New Mexico has treated a large population of Navajo Indians. Team awareness of the Navajo concept of health as man in balance with his environment has resulted in more expedient treatment of the Navajo children. An understanding of Navajo concerns with ghosts, skinwalkers, and rules for orderly living has allowed team members to integrate the family and the Navajo medicine man in caring for the children with craniofacial disease. Special concerns for informed surgical consent and genetic counseling of the Navajo are reviewed. Respect for the traditional Navajo healing ceremonies and special handling of disposed body parts in surgery are required of the health professionals caring for these people.

  1. The concept of pattern in craniofacial growth.

    PubMed

    Moyers, R E; Bookstein, F L; Guire, K E

    1979-08-01

    1. There are semantic and associated problems with the word pattern in biology, particularly in orthodontics and facial growth. 2. Pattern, as we use the term, is invariance of relationships--"a set of constraints operating to preserve the integration of parts under varying conditions and through time." 3. Craniofacial pattern can be described and quantified by the identification of craniofacial constants, measures that are relatively invariant. 4. Growth is change and is best identified by studying those measures of size and shape that vary most sensitively through time over development stages. 5. The many traditional cephalometric measures that represent well neither pattern nor growth (mixed) are of less clinical utility than either pure pattern indices or growth indices. 6. The analytical and conceptual separation of pattern and growth seems useful in analysis of morphology, analysis of growth, prediction of growth, and clinical treatment planning.

  2. Multiple phylogenetically distinct events shaped the evolution of limb skeletal morphologies associated with bipedalism in the jerboas

    PubMed Central

    Moore, Talia Y.; Organ, Chris L.; Edwards, Scott V.; Biewener, Andrew A.; Tabin, Clifford J.; Jenkins, Farish A.; Cooper, Kimberly L.

    2016-01-01

    SUMMARY Recent rapid advances in experimental biology have expanded the opportunity for interdisciplinary investigations of the evolution of form and function in non-traditional model species. However, historical divisions of philosophy and methodology between evolutionary/organismal biologists and developmental geneticists often preclude an effective merging of disciplines. In an effort to overcome these divisions, we take advantage of the extraordinary morphological diversity of the rodent superfamily Dipodoidea, including the bipedal jerboas, to experimentally study the developmental mechanisms and biomechanical performance of a remarkably divergent limb structure. Here, we place multiple limb character states in a locomotor and phylogenetic context. While obligate bipedalism arose once in the ancestor of extant jerboas, we find that digit loss, metatarsal fusion, between limb proportions, and within hindlimb proportions all evolved independently of one another. Digit loss occurred three times through at least two distinct developmental mechanisms, and elongation of the hindlimb relative to the forelimb is not simply due to growth mechanisms that change proportions within the hindlimb. Furthermore, we find strong evidence for punctuated evolution of allometric scaling of hindlimb elements during the radiation of Dipodoidea. Our work demonstrates the value of leveraging the evolutionary history of a clade to establish criteria for identifying the developmental genetic mechanisms of morphological diversification. PMID:26455300

  3. Multiple phylogenetically distinct events shaped the evolution of limb skeletal morphologies associated with bipedalism in the jerboas.

    PubMed

    Moore, Talia Y; Organ, Chris L; Edwards, Scott V; Biewener, Andrew A; Tabin, Clifford J; Jenkins, Farish A; Cooper, Kimberly L

    2015-11-02

    Recent rapid advances in experimental biology have expanded the opportunity for interdisciplinary investigations of the evolution of form and function in non-traditional model species. However, historical divisions of philosophy and methodology between evolutionary/organismal biologists and developmental geneticists often preclude an effective merging of disciplines. In an effort to overcome these divisions, we take advantage of the extraordinary morphological diversity of the rodent superfamily Dipodoidea, including the bipedal jerboas, to experimentally study the developmental mechanisms and biomechanical performance of a remarkably divergent limb structure. Here, we place multiple limb character states in a locomotor and phylogenetic context. Whereas obligate bipedalism arose just once in the ancestor of extant jerboas, we find that digit loss, metatarsal fusion, between-limb proportions, and within-hindlimb proportions all evolved independently of one another. Digit loss occurred three times through at least two distinct developmental mechanisms, and elongation of the hindlimb relative to the forelimb is not simply due to growth mechanisms that change proportions within the hindlimb. Furthermore, we find strong evidence for punctuated evolution of allometric scaling of hindlimb elements during the radiation of Dipodoidea. Our work demonstrates the value of leveraging the evolutionary history of a clade to establish criteria for identifying the developmental genetic mechanisms of morphological diversification.

  4. Gene Therapy: Implications for Craniofacial Regeneration

    PubMed Central

    Scheller, Erica L.; Villa-Diaz, Luis G; Krebsbach, Paul H.

    2011-01-01

    Gene therapy in the craniofacial region provides a unique tool for delivery of DNA to coordinate protein production in both time and space. The drive to bring this technology to the clinic is derived from the fact that over 85% of the global population may at one time require repair or replacement of a craniofacial structure. This need ranges from mild tooth decay and tooth loss to temporomandibular joint disorders and large-scale reconstructive surgery. Our ability to insert foreign DNA into a host cell has been developing since early uses of gene therapy to alter bacterial properties for waste cleanup in the 1980s followed by successful human clinical trials in the 1990s to treat severe combined immunodeficiency. In the past twenty years the emerging field of craniofacial tissue engineering has adopted these techniques to enhance regeneration of mineralized tissues, salivary gland, periodontium, and to reduce tumor burden of head and neck squamous cell carcinoma. Studies are currently pursuing research on both biomaterial-mediated gene delivery as well as more clinically efficacious, though potentially more hazardous, viral methods. Though hundreds of gene therapy clinical trials have taken place in the past twenty years, we must still work to ensure an ideal safety profile for each gene and delivery method combination. With adequate genotoxicity testing, we can expect gene therapy to augment protein delivery strategies and potentially allow for tissue-specific targeting, delivery of multiple signals, and increased spatial and temporal control with the goal of natural tissue replacement in the craniofacial complex. PMID:22337437

  5. Craniofacial ballpoint pen injury: endoscopic management.

    PubMed

    LaFrentz, J R; Mair, E A; Casler, J D

    2000-02-01

    Penetrating facial injuries are not infrequent. There have been isolated case reports of unusual penetrating craniofacial trauma. We describe an unusual case of a 22-month-old child who suffered an external orbital injury from a ballpoint pen that penetrated the orbit, lamina papyracea, posterior ethmoid sinuses, and sphenoid sinus. Endoscopic sinus surgery was performed to extract the ballpoint pen nib after localization with computed tomography. Careful pediatric endoscopic sinus surgery techniques permitted safe foreign body extraction with minimal morbidity.

  6. The craniofacial complex in 47,XYY males.

    PubMed

    Grön, M; Pietilä, K; Alvesalo, L

    1997-08-01

    Eight adult, Finnish 47,XYY males were compared with population male and female controls and, in addition, three of them were compared with first-degree male relatives. Linear and angular measurements were made from standardized lateral cephalograms of patients and normal population controls from the "Kvantti" study series. In both comparisons the craniofacial dimensions in 47,XYY males were larger than those in population male and female controls. Their craniofacial proportions and plane angles were similar to those of normal men except for a larger lower facial height with posterior rotation of the mandible and a tendency to bimaxillary protrusion, a longer cranial base and a lesser cranial-base angle. Thus the supernumerary Y chromosomal gene(s) in 47,XYY males may result in larger craniofacial dimensions than in normal males, without substantial effects on dimensional ratios and plane angles. This general metric pattern is similar to that observed in relation to many adult body and head dimensions, and the dental arches and tooth crowns, of 47,XYY males. The foramen magnum in 47,XYY males was smaller in the sagittal plane than that of normal males and females.

  7. Elastic Properties of Chimpanzee Craniofacial Cortical Bone.

    PubMed

    Gharpure, Poorva; Kontogiorgos, Elias D; Opperman, Lynne A; Ross, Callum F; Strait, David S; Smith, Amanda; Pryor, Leslie C; Wang, Qian; Dechow, Paul C

    2016-12-01

    Relatively few assessments of cranial biomechanics formally take into account variation in the material properties of cranial cortical bone. Our aim was to characterize the elastic properties of chimpanzee craniofacial cortical bone and compare these to the elastic properties of dentate human craniofacial cortical bone. From seven cranial regions, 27 cylindrical samples were harvested from each of five chimpanzee crania. Assuming orthotropy, axes of maximum stiffness in the plane of the cortical plate were derived using modified equations of Hooke's law in a Mathcad program. Consistent orientations among individuals were observed in the zygomatic arch and alveolus. The density of cortical bone showed significant regional variation (P < 0.001). The elastic moduli demonstrated significant differences between sites, and a distinct pattern where E3  > E2  > E1 . Shear moduli were significantly different among regions (P < 0.001). The pattern by which chimpanzee cranial cortical bone varies in elastic properties resembled that seen in humans, perhaps suggesting that the elastic properties of craniofacial bone in fossil hominins can be estimated with at least some degree of confidence. Anat Rec, 299:1718-1733, 2016. © 2016 Wiley Periodicals, Inc.

  8. Craniofacial abnormalities among patients with Edwards Syndrome

    PubMed Central

    Rosa, Rafael Fabiano M.; Rosa, Rosana Cardoso M.; Lorenzen, Marina Boff; Zen, Paulo Ricardo G.; Graziadio, Carla; Paskulin, Giorgio Adriano

    2013-01-01

    OBJECTIVE To determine the frequency and types of craniofacial abnormalities observed in patients with trisomy 18 or Edwards syndrome (ES). METHODS This descriptive and retrospective study of a case series included all patients diagnosed with ES in a Clinical Genetics Service of a reference hospital in Southern Brazil from 1975 to 2008. The results of the karyotypic analysis, along with clinical data, were collected from medical records. RESULTS: The sample consisted of 50 patients, of which 66% were female. The median age at first evaluation was 14 days. Regarding the karyotypes, full trisomy of chromosome 18 was the main alteration (90%). Mosaicism was observed in 10%. The main craniofacial abnormalities were: microretrognathia (76%), abnormalities of the ear helix/dysplastic ears (70%), prominent occiput (52%), posteriorly rotated (46%) and low set ears (44%), and short palpebral fissures/blepharophimosis (46%). Other uncommon - but relevant - abnormalities included: microtia (18%), orofacial clefts (12%), preauricular tags (10%), facial palsy (4%), encephalocele (4%), absence of external auditory canal (2%) and asymmetric face (2%). One patient had an initial suspicion of oculo-auriculo-vertebral spectrum (OAVS) or Goldenhar syndrome. CONCLUSIONS: Despite the literature description of a characteristic clinical presentation for ES, craniofacial alterations may be variable among these patients. The OAVS findings in this sample are noteworthy. The association of ES with OAVS has been reported once in the literature. PMID:24142310

  9. Airway adequacy, head posture, and craniofacial morphology.

    PubMed

    Solow, B; Siersbaek-Nielsen, S; Greve, E

    1984-09-01

    Previous studies of different samples have demonstrated associations between craniocervical angulation and craniofacial morphology, between airway obstruction by adenoids and craniofacial morphology, and between airway obstruction and craniocervical angulation. A hypothesis to account for the different sets of associations was suggested by Solow and Kreiborg in 1977. In the present study, the three sets of associations were examined in a single group of nonpathologic subjects with no history of airway obstruction. Cephalometric radiographs taken in the natural head position and rhinomanometric recordings were obtained from twenty-four children 7 to 9 years of age. Correlations were calculated between twenty-seven morphologic, eight postural, and two airway variables. A large craniocervical angle was, on the average, seen in connection with small mandibular dimensions, mandibular retrognathism, and a large mandibular inclination. Obstructed nasopharyngeal airways (defined as a small pm-ad 2 radiographic distance and a large nasal respiratory resistance, NRR, determined rhinomanometrically) were, on the average, seen in connection with a large craniocervical angle and with small mandibular dimensions, mandibular retrognathism, a large mandibular inclination, and retroclination of the upper incisors. The observed correlations were in agreement with the predicted pattern of associations between craniofacial morphology, craniocervical angulation, and airway resistance, thus suggesting the simultaneous presence of such associations in the sample of nonpathologic subjects with no history of airway obstruction.

  10. [Current gene study in etiological analysis of congenital craniofacial abnormalities].

    PubMed

    Feng, Yi-miao; Fang, Bing

    2007-04-01

    The cause of congenital craniofacial abnormalities are very complicated. Understanding of the gene mechanisms of abnormalities taking place are very important for prevention and therapy.DNA sequence analysis provides the fundaments of gene study of the congenital craniofacial abnormalities. Human genome project (HGP) paved the confirmation of candidate gene of the congenital craniofacial abnormalities.Transgenic animal models and gene knockout techniques are effective methods in study of gene function. This paper reviews current gene study in etiopathogenisis analysis of the congenital craniofacial abnormalities.

  11. Candidate Gene Analyses of Skeletal Variation in Malocclusion

    PubMed Central

    da Fontoura, C.S.G.; Miller, S.F.; Wehby, G.L.; Amendt, B.A.; Holton, N.E.; Southard, T.E.; Allareddy, V.

    2015-01-01

    This study evaluated associations between craniofacial candidate genes and skeletal variation in patients with malocclusion. Lateral cephalometric radiographs of 269 untreated adults with skeletal classes I, II, and III malocclusion were digitized with 14 landmarks. Two-dimensional coordinates were analyzed using Procrustes fit and principal component (PC) analysis to generate continuous malocclusion phenotypes. Skeletal class classifications (I, II, or III) were used as a categorical phenotype. Individuals were genotyped for 198 single-nucleotide polymorphisms (SNPs) in 71 craniofacial genes and loci. Phenotype-genotype associations were tested via multivariate linear regression for continuous phenotypes and multinomial logistic regression for skeletal malocclusion class. PC analysis resulted in 4 principal components (PCs) explaining 69% of the total skeletal facial variation. PC1 explained 32.7% of the variation and depicted vertical discrepancies ranging from skeletal deep to open bites. PC1 was associated with a SNP near PAX5 (P = 0.01). PC2 explained 21.7% and captured horizontal maxillomandibular discrepancies. PC2 was associated with SNPs upstream of SNAI3 (P = 0.0002) and MYO1H (P = 0.006). PC3 explained 8.2% and captured variation in ramus height, body length, and anterior cranial base orientation. PC3 was associated with TWIST1 (P = 0.000076). Finally, PC4 explained 6.6% and detected variation in condylar inclination as well as symphysis projection. PC4 was associated with PAX7 (P = 0.007). Furthermore, skeletal class II risk increased relative to class I with the minor alleles of SNPs in FGFR2 (odds ratio [OR] = 2.1, P = 0.004) and declined with SNPs in EDN1 (OR = 0.5, P = 0.007). Conversely, skeletal class III risk increased versus class I with SNPs in FGFR2 (OR 2.2, P = 0.005) and COL1A1 (OR = 2.1, P = 0.008) and declined with SNPs in TBX5 (OR = 0.5, P = 0.014). PAX5, SNAI3, MYO1H, TWIST1, and PAX7 are associated with craniofacial skeletal variation

  12. Candidate Gene Analyses of Skeletal Variation in Malocclusion.

    PubMed

    da Fontoura, C S G; Miller, S F; Wehby, G L; Amendt, B A; Holton, N E; Southard, T E; Allareddy, V; Moreno Uribe, L M

    2015-07-01

    This study evaluated associations between craniofacial candidate genes and skeletal variation in patients with malocclusion. Lateral cephalometric radiographs of 269 untreated adults with skeletal classes I, II, and III malocclusion were digitized with 14 landmarks. Two-dimensional coordinates were analyzed using Procrustes fit and principal component (PC) analysis to generate continuous malocclusion phenotypes. Skeletal class classifications (I, II, or III) were used as a categorical phenotype. Individuals were genotyped for 198 single-nucleotide polymorphisms (SNPs) in 71 craniofacial genes and loci. Phenotype-genotype associations were tested via multivariate linear regression for continuous phenotypes and multinomial logistic regression for skeletal malocclusion class. PC analysis resulted in 4 principal components (PCs) explaining 69% of the total skeletal facial variation. PC1 explained 32.7% of the variation and depicted vertical discrepancies ranging from skeletal deep to open bites. PC1 was associated with a SNP near PAX5 (P = 0.01). PC2 explained 21.7% and captured horizontal maxillomandibular discrepancies. PC2 was associated with SNPs upstream of SNAI3 (P = 0.0002) and MYO1H (P = 0.006). PC3 explained 8.2% and captured variation in ramus height, body length, and anterior cranial base orientation. PC3 was associated with TWIST1 (P = 0.000076). Finally, PC4 explained 6.6% and detected variation in condylar inclination as well as symphysis projection. PC4 was associated with PAX7 (P = 0.007). Furthermore, skeletal class II risk increased relative to class I with the minor alleles of SNPs in FGFR2 (odds ratio [OR] = 2.1, P = 0.004) and declined with SNPs in EDN1 (OR = 0.5, P = 0.007). Conversely, skeletal class III risk increased versus class I with SNPs in FGFR2 (OR 2.2, P = 0.005) and COL1A1 (OR = 2.1, P = 0.008) and declined with SNPs in TBX5 (OR = 0.5, P = 0.014). PAX5, SNAI3, MYO1H, TWIST1, and PAX7 are associated with craniofacial skeletal variation

  13. Complex Craniofacial Changes in Blind Cave-Dwelling Fish Are Mediated by Genetically Symmetric and Asymmetric Loci

    PubMed Central

    Gross, Joshua B.; Krutzler, Amanda J.; Carlson, Brian M.

    2014-01-01

    The genetic regulators of regressive craniofacial morphologies are poorly understood. To shed light on this problem, we examined the freshwater fish Astyanax mexicanus, a species with surface-dwelling and multiple independent eyeless cave-dwelling forms. Changes affecting the skull in cavefish include morphological alterations to the intramembranous circumorbital bones encircling the eye. Many of these modifications, however, have evolved separately from eye loss, such as fragmentation of the third suborbital bone. To understand the genetic architecture of these eye-independent craniofacial alterations, we developed and scored 33 phenotypes in the context of an F2 hybrid mapping pedigree bred from Pachón cavefish and surface fish. We discovered several individuals exhibiting dramatic left–right differences in bone formation, such as extensive fragmentation on the right side only. This observation, along with well-known eye size asymmetry in natural cave-dwelling animals, led us to further evaluate left–right genetic differences for the craniofacial complex. We discovered three phenotypes, inclusive of bone fragmentation and fusion, which demonstrated a directional heritable basis only on one side. Interestingly, the overall areas of affected bones were genetically symmetric. Phenotypic effect plots of these novel craniofacial QTL revealed that cave alleles are associated with abnormal conditions such as bony fusion and fragmentation. Moreover, many linked loci overlapped with other cave-associated traits, suggesting regressive craniofacial changes may evolve through linkage or as antagonistic pleiotropic consequences of cave-associated adaptations. These novel findings illuminate significant craniofacial changes accompanying evolution in complete darkness and reveal complex changes to the skull differentially influenced by genetic changes affecting the left and right sides. PMID:24496009

  14. OCT imaging of craniofacial anatomy in xenopus embryos (Conference Presentation)

    NASA Astrophysics Data System (ADS)

    Deniz, Engin; Jonas, Stephan M.; Griffin, John; Hooper, Michael C.; Choma, Michael A.; Khokha, Mustafa K.

    2016-03-01

    The etiology of craniofacial defects is incompletely understood. The ability to obtain large amounts of gene sequence data from families affected by craniofacial defects is opening up new ways to understand molecular genetic etiological factors. One important link between gene sequence data and clinical relevance is biological research into candidate genes and molecular pathways. We present our recent research using OCT as a nondestructive phenotyping modality of craniofacial morphology in Xenopus embryos, an important animal model for biological research in gene and pathway discovery. We define 2D and 3D scanning protocols for a standardized approach to craniofacial imaging in Xenopus embryos. We define standard views and planar reconstructions for visualizing normal anatomy and landmarks. We compare these views and reconstructions to traditional histopathology using alcian blue staining. In addition to being 3D, nondestructive, and having much faster throughout, OCT can identify craniofacial features that are lost during traditional histopathological preparation. We also identify quantitative morphometric parameters to define normative craniofacial anatomy. We also note that craniofacial and cardiac defects are not infrequently present in the same patient (e.g velocardiofacial syndrome). Given that OCT excels at certain aspects of cardiac imaging in Xenopus embryos, our work highlights the potential of using OCT and Xenopus to study molecular genetic factors that impact both cardiac and craniofacial development.

  15. Facing up to the Challenges of Advancing Craniofacial Research

    PubMed Central

    Trainor, Paul A.; Richtsmeier, Joan T.

    2015-01-01

    Craniofacial anomalies are among the most common human birth defects and have considerable functional, aesthetic, and social consequences. The early developmental origin as well as the anatomical complexity of the head and face render these tissues prone to genetic and environmental insult. The establishment of craniofacial clinics offering comprehensive care for craniofacial patients at a single site together with international research networks focused on the origins and treatment of craniofacial disorders has led to tremendous advances in our understanding of the etiology and pathogenesis of congenital craniofacial anomalies. However, the genetic, environmental, and developmental sources of many craniofacial disorders remain unknown. To overcome this problem and further advance craniofacial research, we must recognize current challenges in the field and establish priority areas for study. We still need (i) a deeper understanding of variation during normal development and within the context of any disorder, (ii) improved genotyping and phenotyping and understanding of the impact of epigenetics, (iii) continued development of animal models and functional analyses of genes and variants, and (iv) integration of patient derived cells and tissues together with 3D printing and quantitative assessment of surgical outcomes for improved practice. Only with fundamental advances in each of these areas will we be able to meet the challenge of translating potential therapeutic and preventative approaches into clinical solutions and reduce the financial and emotional burden of craniofacial anomalies. PMID:25820983

  16. 76 FR 30373 - National Institute of Dental & Craniofacial Research; Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-05-25

    ... Institute of Dental & Craniofacial Research; Meeting Notice of Closed Meeting Pursuant to section 10(d) of... could disclose confidential trade secrets or commercial property such as patentable material, and... Institute of Dental and Craniofacial Research Special Emphasis Panel; Review of NIDCR R03 Applications....

  17. Skeletal Dysplasias

    PubMed Central

    Krakow, Deborah

    2015-01-01

    Synoposis The skeletal dysplasias are a group of more than 450 heritable disorders of bone. They frequently present in the newborn period with disproportion, radiographic abnormalities, and occasionally other organ system abnormalities. For improved clinical care it is important to determine a precise diagnosis to aid in management, familial recurrence and identify those disorders highly associated with mortality. Long-term management of these disorders is predicated on an understanding of the associated skeletal system abnormalities and these children are best served by a team approach to health care surveillance. PMID:26042906

  18. Inducible Cre transgenic mouse strain for skeletal muscle-specific gene targeting

    PubMed Central

    2012-01-01

    Background The use of the Cre/loxP system for gene targeting has been proven to be a powerful tool for understanding gene function. The purpose of this study was to create and characterize an inducible, skeletal muscle-specific Cre transgenic mouse strain. Methods To achieve skeletal muscle-specific expression, the human α-skeletal actin promoter was used to drive expression of a chimeric Cre recombinase containing two mutated estrogen receptor ligand-binding domains. Results Western blot analysis, PCR and β-galactosidase staining confirmed that Cre-mediated recombination was restricted to limb and craniofacial skeletal muscles only after tamoxifen administration. Conclusions A transgenic mouse was created that allows inducible, gene targeting of floxed genes in adult skeletal muscle of different developmental origins. This new mouse will be of great utility to the skeletal muscle community. PMID:22564549

  19. Pediatric craniofacial surgery: a review for the multidisciplinary team.

    PubMed

    Taub, Peter J; Lampert, Joshua A

    2011-11-01

    Pediatric craniofacial surgery is a specialty that grew dramatically in the 20th century and continues to evolve today. Out of the efforts to correct facial deformities encountered during World War II, the techniques of modern craniofacial surgery developed. An analysis of the relevant literature allowed the authors to explore this historical progression. Current advances in technology, tissue engineering, and molecular biology have further refined pediatric craniofacial surgery. The development of distraction osteogenesis and the progressive study of craniosynostosis provide remarkable examples of this momentum. The growing study of genetics, biotechnology, the influence of growth factors, and stem cell research provide additional avenues of innovation for the future. The following article is intended to reveal a greater understanding of pediatric craniofacial surgery by examining the past, present, and possible future direction. It is intended both for the surgeon, as well as for the nonsurgical individual specialists vital to the multidisciplinary craniofacial team.

  20. Craniofacial Bone Grafting: Wolff's Law Revisited

    PubMed Central

    Oppenheimer, Adam J.; Tong, Lawrence; Buchman, Steven R.

    2008-01-01

    Bone grafts are used for the reconstruction of congenital and acquired deformities of the facial skeleton and, as such, comprise a vital component of the craniofacial surgeon's armamentarium. A thorough understanding of bone graft physiology and the factors that affect graft behavior is therefore essential in developing a more intelligent use of bone grafts in clinical practice. This article presents a review of the basic physiology of bone grafting along with a survey of pertinent concepts and current research. The factors responsible for bone graft survival are emphasized. PMID:22110789

  1. Evaluation of Craniofacial Morphology of Children with Dental Fluorosis in Early Permanent Dentition Period

    PubMed Central

    Dogan, Alev Aksoy; Bolpaca, Pinar

    2009-01-01

    Objectives High intake of fluoride (>1.5 mg/L) for a prolonged period may lead to skeletal fluorosis as well as dental fluorosis. The aim of this study was to compare the craniofacial characteristics of children with dental fluorosis in early permanent dentition period to those without fluorosis. Methods Two hundred and sixteen children in early permanent dentition (girls:121, boys:95) were included in the study. Study group was composed of 124 children with dental fluorosis who was born and grew up in Isparta (girls:75, boys:49) whereas control group of children (n=92: 46 girls and 46 boys) had no dental fluorosis. Dental fluorosis was classified using Thylstrup Fejerskov Fluorosis Index. Radiological evaluation was performed by cephalometric tracing using Björk analysis. Statistical evaluation in between study and control groups was done by Independent Samples T test and comparison with Björk’s standards was done by One Sample T test analysis. The association between two quantitative variables was evaluated with Pearson’s correlation coefficient (rho). Results The mean dental fluorosis level was 4.6±1.8 for children with fluorosis. Systemic fluorosis affect girls no different than boys in the early permanent dentition period because none of the angular measurements show significant difference between boys and girls in the fluoridated group. Comparison of craniofacial angular values of boys with fluorosis show greater diversity compared to boys without fluorosis against Björk’s mean values for boys. Conclusions Craniofacial morphology of children with fluorosis did not show great diversity than the ones without fluorosis in the early permanent dentition period. None of the angular measurements were significantly different between boys and girls in the fluoridated group which might imply that systemic fluorosis did not show gender difference in the early permanent dentition. (Eur J Dent 2009;3:304–313) PMID:19826603

  2. Skeletal muscle

    Technology Transfer Automated Retrieval System (TEKTRAN)

    There are approximately 650-850 muscles in the human body these include skeletal (striated), smooth and cardiac muscle. The approximation is based on what some anatomists consider separate muscle or muscle systems. Muscles are classified based on their anatomy (striated vs. smooth) and if they are v...

  3. Evolution.

    ERIC Educational Resources Information Center

    Mayr, Ernst

    1978-01-01

    Traces the history of evolution theory from Lamarck and Darwin to the present. Discusses natural selection in detail. Suggests that, besides biological evolution, there is also a cultural evolution which is more rapid than the former. (MA)

  4. MEPROCS framework for Craniofacial Superimposition: Validation study.

    PubMed

    Ibáñez, O; Vicente, R; Navega, D; Campomanes-Álvarez, C; Cattaneo, C; Jankauskas, R; Huete, M I; Navarro, F; Hardiman, R; Ruiz, E; Imaizumi, K; Cavalli, F; Veselovskaya, E; Humpire, D; Cardoso, J; Collini, F; Mazzarelli, D; Gibelli, D; Damas, S

    2016-11-01

    Craniofacial Superimposition (CFS) involves the process of overlaying a skull with a number of ante-mortem images of an individual and the analysis of their morphological correspondence. The lack of unified working protocols and the absence of commonly accepted standards, led to contradictory consensus regarding its reliability. One of the more important aims of 'New Methodologies and Protocols of Forensic Identification by Craniofacial Superimposition (MEPROCS)' project was to propose a common framework for CFS, what can be considered the first international standard in the field. The framework aimed to serve as a roadmap for avoiding particular assumptions that could bias the process. At the same time, it provides some empirical support to certain practices, technological means, and morphological criteria expected to facilitate the application of the CFS task and to improve its reliability. In order to confirm the utility and potential benefits of the framework use, there is a need to empirically evaluate it in CFS identification scenarios as close as possible to the reality. Thus, the purpose of this study is to validate the CFS framework developed. For that aim 12 participants were asked to report about a variable number of CFS following all the recommendations of the framework. The results are analysed and discussed according to the framework understanding and fulfilment, the participants' performance, and the correlation between expected decisions and those given by the participants. In view of the quantitative results and qualitative examination criteria we can conclude that those who follow the MEPROCS recommendations improve their performance.

  5. Computer-assisted innovations in craniofacial surgery.

    PubMed

    Rudman, Kelli; Hoekzema, Craig; Rhee, John

    2011-08-01

    Reconstructive surgery for complex craniofacial defects challenges even the most experienced surgeons. Preoperative reconstructive planning requires consideration of both functional and aesthetic properties of the mandible, orbit, and midface. Technological innovations allow for computer-assisted preoperative planning, computer-aided manufacturing of patient-specific implants (PSIs), and computer-assisted intraoperative navigation. Although many case reports discuss computer-assisted preoperative planning and creation of custom implants, a general overview of computer-assisted innovations is not readily available. This article reviews innovations in computer-assisted reconstructive surgery including anatomic considerations when using PSIs, technologies available for preoperative planning, work flow and process of obtaining a PSI, and implant materials available for PSIs. A case example follows illustrating the use of this technology in the reconstruction of an orbital-frontal-temporal defect with a PSI. Computer-assisted reconstruction of complex craniofacial defects provides the reconstructive surgeon with innovative options for challenging reconstructive cases. As technology advances, applications of computer-assisted reconstruction will continue to expand.

  6. Cranio-facial morphanalysis: a new method for enhancing reliability while identifying skulls by photo superimposition.

    PubMed

    Jayaprakash, P T; Srinivasan, G J; Amravaneswaran, M G

    2001-03-01

    Skull-photograph superimposition continues to be the most prevalent method employed for identifying a skull recovered in a criminal case as that belonging to a putative victim whose face photograph is available. The reliability of identification achieved has been shown to be 91%, indicating the possibility of a skull mismatching with a face photograph belonging to a person other than the actual deceased. This lack of reliability dampens the confidence of the expert and in turn confounds the mind of the judge. It has been shown that the variations in the shape of the facial organs are influenced by the corresponding variations in the skeletal elements of the facial skull. "Cranio-facial morphanalysis", a new anthroposcopic method proposed here for evaluating the shape correlations between a skull and a face photograph, when applied conjointly with skull-photograph superimposition is shown to increase the reliability in forensic skull identification.

  7. Managing obstructive sleep apnoea in children: the role of craniofacial morphology.

    PubMed

    Bozzini, Maria Fernanda Rabelo; Di Francesco, Renata Cantisani

    2016-11-01

    Obstructive sleep apnoea syndrome is a type of sleep-disordered breathing that affects 1 to 5% of all children. Pharyngeal and palatine tonsil hypertrophy is the main predisposing factor. Various abnormalities are predisposing factors for obstructive sleep apnoea, such as decreased mandibular and maxillary lengths, skeletal retrusion, increased lower facial height and, consequently, increased total anterior facial height, a larger cranio-cervical angle, small posterior airway space and an inferiorly positioned hyoid bone. The diagnosis is based on the clinical history, a physical examination and tests confirming the presence and severity of upper airway obstruction. The gold standard test for diagnosis is overnight polysomnography. Attention must be paid to identify the craniofacial characteristics. When necessary, children should be referred to orthodontists and/or sleep medicine specialists for adequate treatment in addition to undergoing an adenotonsillectomy.

  8. Managing obstructive sleep apnoea in children: the role of craniofacial morphology

    PubMed Central

    Bozzini, Maria Fernanda Rabelo; Di Francesco, Renata Cantisani

    2016-01-01

    Obstructive sleep apnoea syndrome is a type of sleep-disordered breathing that affects 1 to 5% of all children. Pharyngeal and palatine tonsil hypertrophy is the main predisposing factor. Various abnormalities are predisposing factors for obstructive sleep apnoea, such as decreased mandibular and maxillary lengths, skeletal retrusion, increased lower facial height and, consequently, increased total anterior facial height, a larger cranio-cervical angle, small posterior airway space and an inferiorly positioned hyoid bone. The diagnosis is based on the clinical history, a physical examination and tests confirming the presence and severity of upper airway obstruction. The gold standard test for diagnosis is overnight polysomnography. Attention must be paid to identify the craniofacial characteristics. When necessary, children should be referred to orthodontists and/or sleep medicine specialists for adequate treatment in addition to undergoing an adenotonsillectomy. PMID:27982168

  9. Frequency of craniofacial pain in patients with ischemic heart disease

    PubMed Central

    Bakhshi, Mahin; Rezaei, Rezvan; Baharvand, Maryam

    2017-01-01

    Background Referred craniofacial pain of cardiac origin might be the only symptom of ischemic heart accidents. This study aimed to determine the frequency of craniofacial pain in patients with ischemic heart disease. Material and Methods This cross-sectional study was accomplished on 296 patients who met the criteria of having ischemic heart disease. Data regarding demographics, medical history and referred craniofacial pain were recorded in data forms. In addition, patients underwent oral examination to preclude any source of dental origin. Chi-square test, Student’s t-test and backward regression model were used to analyze the data by means of SPSS software version 21. P<0.05 was considered significant. Results A total of 296 patients were studied comprising of 211 men (71%) and 85 women (29%) with the mean age of 55.8. Craniofacial pain was experienced by 53 patients out of 296, 35 (66%) of whom were male and 18 (34%) were female. None of the patients experienced craniofacial pain solely. The most common sites of craniofacial pain were occipital and posterior neck (52.8%), head (43.3%), throat and anterior neck (41.5%) respectively. We found no relationship between craniofacial pain of cardiac origin with age, diabetes, hypertension, and family history. On the other hand, there was a significant relationship between hyperlipidemia and smoking with craniofacial pain of cardiac origin. Conclusions Radiating pain to face and head can be expected quite commonly during a cardiac ischemic event. Dental practitioners should be thoroughly aware of this symptomatology to prevent misdirected dental treatment and delay of medical care. Key words:Craniofacial pain, ischemic heart disease, myocardial infarction, angina pectoris, referred pain. PMID:28149470

  10. Peripheral nerve stimulation for the treatment of neuropathic craniofacial pain.

    PubMed

    Slavin, K V

    2007-01-01

    Treatment of neuropathic pain in the region of head and face presents a challenging problem for pain specialists. In particular, those patients who do not respond to conventional treatment modalities usually continue to suffer from pain due to lack of reliable medical and surgical approaches. Peripheral nerve stimulation (PNS) has been used for treatment of neuropathic pain for many decades, but only recently it has been systematically applied to the craniofacial region. Here we summarize published experience with PNS in treatment of craniofacial pain and discuss some technical details of the craniofacial PNS procedure.

  11. Growth hormone therapy and craniofacial bones: a comprehensive review.

    PubMed

    Litsas, G

    2013-09-01

    Growth hormone (GH) has significant effects on linear bone growth, bone mass and bone metabolism. The primary role of GH supplementation in children with GH deficiency, those born small for gestational age or with other types of disorders in somatic development is to increase linear growth. However, GH therapy seems to elicit varying responses in the craniofacial region. Whereas the effects of GH administration on somatic development are well documented, comparatively little is known of its effects on the craniofacial region. The purpose of this review was to search the literature and compile results from both animal and human studies related to the impact of GH on craniofacial growth.

  12. Shape covariation between the craniofacial complex and first molars in humans

    PubMed Central

    Polychronis, Georgios; Halazonetis, Demetrios J

    2014-01-01

    The occurrence of mutual genetic loci in morphogenesis of the face and teeth implies shape covariation between these structures. However, teeth finalize their shape at an early age, whereas the face grows and is subjected to environmental influences for a prolonged period; it is therefore conceivable that covariation might modulate with age. Here we investigate the extent of this covariation in humans by measuring the 3D shape of the occlusal surface of the permanent first molars and the shape of the craniofacial complex from lateral radiographs, at two maturations stages. A sample of Greek subjects was divided into two groups (110 adult, 110 prepubertal) with equally distributed gender. The occlusal surfaces of the right first molars were 3D scanned from dental casts; 265 and 274 landmarks (including surface and curve semilandmarks) were digitized on the maxillary and mandibular molars, respectively. The corresponding lateral cephalometric radiographs were digitized with 71 landmarks. Geometric morphometric methods were used to assess shape variation and covariation. The vertical dimension of the craniofacial complex was the main parameter of shape variation, followed by anteroposterior deviations. The male craniofacial complex was larger (4.0–5.7%) and was characterized by a prominent chin and clockwise rotation of the cranial base (adult group only). Allometry was weak and statistically significant only when examined for the sample as a whole (percent variance explained: 2.1%, P = 0.0002). Covariation was statistically significant only between the lower first molar and the craniofacial complex (RV = 14.05%, P = 0.0099, and RV = 12.31%, P = 0.0162, for the prepubertal and adult groups, respectively). Subtle age-related covariation differences were noted, indicating that environmental factors may influence the pattern and strength of covariation. However, the main pattern was similar in both groups: a class III skeletal pattern (relative maxillary retrusion and

  13. Selective brain cooling seems to be a mechanism leading to human craniofacial diversity observed in different geographical regions.

    PubMed

    Irmak, M K; Korkmaz, A; Erogul, O

    2004-01-01

    Selective brain cooling (SBC) can occur in hyperthermic humans despite the fact that humans have no carotid rete, a vascular structure that facilitates countercurrent heat exchange located at the base of the skull in some mammals. Emissary and angular veins, upper respiratory tract, tympanic cavity and cerebrospinal fluid are major components of SBC system in humans. The efficiency of SBC is increased by evaporation of sweat on the head and by ventilation through the nose, but it is surprising to find out that mammals do not display SBC during exercise hyperthermia. What is the explanation then for the SBC at high body temperatures? Our hypothesis is that selective brain cooling protects the brain from thermal damage in a long-standing manner by allowing adaptive mechanisms to change the craniofacial morphology appropriate for different environmental conditions. Since the brain can only be as big that can cool, it is not surprising to find a lower (below 1300 cm(3)) cranial volume in Australian Aborigines with respect to the one (over 1450 cm(3)) in Eskimos. In addition to lower brain volume, other craniofacial features such as thick everted lips, broader nasal cavity and bigger paranasal sinuses that provide more evaporating surfaces seem to be anatomical variations developed in time for an effective SBC in hot climates. It was reported previously that these biological adaptations result from the tissues of neural crest origin. Among the crest derivatives, leptomeninges (pia and arachnoid mater), skeletal and connective tissues of the face and much of the skull seem to be structures upon which environment operates to produce more convenient craniofacial morphology for an effective SBC. In conclusion, selective brain cooling seems to be a mechanism leading to adaptive craniofacial diversity observed in different geographical regions. Thus, SBC is necessary for long-term biological adaptation, not for protecting the brain from acute thermal damage.

  14. An animal model to study toxicity of central nervous system therapy for childhood acute lymphoblastic leukemia: Effects on growth and craniofacial proportion

    SciTech Connect

    Schunior, A.; Zengel, A.E.; Mullenix, P.J.; Tarbell, N.J.; Howes, A.; Tassinari, M.S. )

    1990-10-15

    Many long term survivors of childhood acute lymphoblastic leukemia have short stature, as well as craniofacial and dental abnormalities, as side effects of central nervous system prophylactic therapy. An animal model is presented to assess these adverse effects on growth. Cranial irradiation (1000 cGy) with and without prednisolone (18 mg/kg i.p.) and methotrexate (2 mg/kg i.p.) was administered to 17- and 18-day-old Sprague-Dawley male and female rats. Animals were weighed 3 times/week. Final body weight and body length were measured at 150 days of age. Femur length and craniofacial dimensions were measured directly from the bones, using calipers. For all exposed groups there was a permanent suppression of weight gain with no catch-up growth or normal adolescent growth spurt. Body length was reduced for all treated groups, as were the ratios of body weight to body length and cranial length to body length. Animals subjected to cranial irradiation exhibited microcephaly, whereas those who received a combination of radiation and chemotherapy demonstrated altered craniofacial proportions in addition to microcephaly. Changes in growth patterns and skeletal proportions exhibited sexually dimorphic characteristics. The results indicate that cranial irradiation is a major factor in the growth failure in exposed rats, but chemotherapeutic agents contribute significantly to the outcome of growth and craniofacial dimensions.

  15. Non-surgical treatment of skeletal class III malocclusion.

    PubMed

    Kapadia, Romina M; Shah, Adit P; Diyora, Shamil D; Rathva, Vandana J

    2014-04-10

    The incidence of skeletal class III malocclusion has a mean of 3% in the Caucasian population, 5% in African-American adolescents and about 14% in the Asian population. In India, the incidence of class III malocclusion is reported to be 3.4%. A patient having class III malocclusion shows findings ranging from edge-to-edge bite to large reverse overjet, with extreme variations of underlying skeletal jaw bases and craniofacial form. This is a case report of a 20-year-old man having skeletal class III malocclusion with concave profile, anterior crossbite and a negative overjet of 3 mm treated non-surgically with extraction of only one lower left first premolar.

  16. [Management of craniofacial type 1 neurofibromatosis].

    PubMed

    Bachelet, J T; Combemale, P; Devic, C; Foray, N; Jouanneau, E; Breton, P

    2015-09-01

    Type I neurofibromatosis (NF) is the most common autosomal dominant disease. It concerns one in 3000 births, the penetrance is close to 100% and 50% of new cases are de novo mutations (17q11.2 chromosome 17 location). Cranio-maxillofacial region is concerned in 10% of the cases, in different forms: molluscum neurofibroma, plexiform neurofibroma, cranio-orbital neurofibroma, parotido-jugal neurofibroma, cervical neurofibroma. These lesions have different prognosis depending on the craniofacial localization: ocular functional risk, upper airway compressive risk, nerve compression risk, aesthetic and social impact. The maxillofacial surgeon in charge of patients with type I NF should follow the patient from the diagnosis and organize the different surgical times in order to take care about the different issues: vital, functional and aesthetic. We describe the treatment of facial localizations of type 1 NF as it is done at the University Hospital of Lyon and at the Rhône-Alpes-Auvergne neurofibromatosis reference center.

  17. Craniofacial Secular Change in Recent Mexican Migrants.

    PubMed

    Spradley, Katherine; Stull, Kyra E; Hefner, Joseph T

    2016-01-01

    Research by economists suggests that recent Mexican migrants are better educated and have higher socioeconomic status (SES) than previous migrants. Because factors associated with higher SES and improved education can lead to positive secular changes in overall body form, secular changes in the craniofacial complex were analyzed within a recent migrant group from Mexico. The Mexican group represents individuals in the act of migration, not yet influenced by the American environment, and thus can serve as a starting point for future studies of secular change in this population group. The excavation of a historic Hispanic cemetery in Tucson, Arizona, also allows for a comparison between historic Hispanics and recent migrants to explore craniofacial trends over a broad time period, as both groups originate from Mexico. The present research addresses two main questions: (1) Are cranial secular changes evident in recent Mexican migrants? (2) Are historic Hispanics and recent Mexican migrants similar? By studying secular changes within a migrant population group, secular trends may be detected, which will be important for understanding the biological variation of the migrants themselves and will serve as a preliminary investigation of secular change within Mexican migrants. The comparison of a sample of recent Mexican migrants with a historic Hispanic sample, predominantly of Mexican origin, allows us to explore morphological similarities and differences between early and recent Mexicans within the United States. Vault and face size and a total of 82 craniofacial interlandmark distances were used to explore secular changes within the recent Mexican migrants (females, n = 38; males, n = 178) and to explore the morphological similarities between historic Hispanics (females, n = 54; males, n = 58) and recent migrants. Sexes were separated, and multivariate adaptive regression splines and basis splines (quadratic with one knot) were used to assess the direction and magnitude

  18. Reforming craniofacial orthodontics via stem cells.

    PubMed

    Mohanty, Pritam; Prasad, N K K; Sahoo, Nivedita; Kumar, Gunjan; Mohanty, Debapreeti; Sah, Sushila

    2015-01-01

    Stem cells are the most interesting cells in cell biology. They have the potential to evolve as one of the most powerful technologies in the future. The future refers to an age where it will be used extensively in various fields of medical and dental sciences. Researchers have discovered a number of sources from which stem cells can be derived. Craniofacial problems are very common and occur at all ages. Stem cells can be used therapeutically in almost every field of health science. In fact, many procedures will be reformed after stem cells come into play. This article is an insight into the review of the current researches being carried out on stem cells and its use in the field of orthodontics, which is a specialized branch of dentistry. Although the future is uncertain, there is a great possibility that stem cells will be used extensively in almost all major procedures of orthodontics.

  19. Quality difference in craniofacial pain of cardiac vs. dental origin.

    PubMed

    Kreiner, M; Falace, D; Michelis, V; Okeson, J P; Isberg, A

    2010-09-01

    Craniofacial pain, whether odontogenic or caused by cardiac ischemia, is commonly referred to the same locations, posing a diagnostic challenge. We hypothesized that the validity of pain characteristics would be high in assessment of differential diagnosis. Pain quality, intensity, and gender characteristics were assessed for referred craniofacial pain from dental (n = 359) vs. cardiac (n = 115) origin. The pain descriptors "pressure" and "burning" were statistically associated with pain from cardiac origin, while "throbbing" and "aching" indicated an odontogenic cause. No gender differences were found. These data should now be added to those craniofacial pain characteristics already known to point to acute cardiac disease rather than dental pathology, i.e., pain provocation/aggravation by physical activity, pain relief at rest, and bilateralism. To initiate prompt and appropriate treatment, dental and medical clinicians as well as the public should be alert to those clinical characteristics of craniofacial pain of cardiac origin.

  20. Sleep disorders and chronic craniofacial pain: Characteristics and management possibilities.

    PubMed

    Almoznino, Galit; Benoliel, Rafael; Sharav, Yair; Haviv, Yaron

    2017-06-01

    Chronic craniofacial pain involves the head, face and oral cavity and is associated with significant morbidity and high levels of health care utilization. A bidirectional relationship is suggested in the literature for poor sleep and pain, and craniofacial pain and sleep are reciprocally related. We review this relationship and discuss management options. Part I reviews the relationship between pain and sleep disorders in the context of four diagnostic categories of chronic craniofacial pain: 1) primary headaches: migraines, tension-type headache (TTH), trigeminal autonomic cephalalgias (TACs) and hypnic headache, 2) secondary headaches: sleep apnea headache, 3) temporomandibular joint disorders (TMD) and 4) painful cranial neuropathies: trigeminal neuralgia, post-herpetic trigeminal neuropathy, painful post-traumatic trigeminal neuropathy (PTTN) and burning mouth syndrome (BMS). Part II discusses the management of patients with chronic craniofacial pain and sleep disorders addressing the factors that modulate the pain experience as well as sleep disorders and including both non-pharmacological and pharmacological modalities.

  1. Vertical Craniofacial Morphology and its Relation to Temporomandibular Disorders

    PubMed Central

    Bavia, Paula Furlan

    2016-01-01

    ABSTRACT Objectives This study investigated the association between craniofacial morphology and temporomandibular disorders in adults. The influence of different craniofacial morphologies on painful temporomandibular disorders was also evaluated. Material and Methods A total of 200 subjects were selected, including 100 with temporomandibular disorders (TMD) and 100 without TMD (control), diagnosed by research diagnostic criteria for temporomandibular disorders. All subjects were submitted to lateral cephalometric radiographs, and classified as brachyfacial, mesofacial, or dolichofacial by Ricketts’ analysis. Data were analysed by Tukey-Kramer and Chi-square tests. Results No association between craniofacial morphology and TMD was found (P = 0.6622). However, brachyfacial morphology influences the presence of painful TMD (P = 0.0077). Conclusions Craniofacial morphology is not related to temporomandibular disorders in general. PMID:27489610

  2. Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) Population.

    PubMed

    Woo, Eun Jin; Lee, Won-Joon; Hu, Kyung-Seok; Hwang, Jae Joon

    2015-01-01

    Skeletal dysplasias related to genetic etiologies have rarely been reported for past populations. This report presents the skeletal characteristics of an individual with dwarfism-related skeletal dysplasia from South Korea. To assess abnormal deformities, morphological features, metric data, and computed tomography scans are analyzed. Differential diagnoses include achondroplasia or hypochondroplasia, chondrodysplasia, multiple epiphyseal dysplasia, thalassemia-related hemolytic anemia, and lysosomal storage disease. The diffused deformities in the upper-limb bones and several coarsened features of the craniofacial bones indicate the most likely diagnosis to have been a certain type of lysosomal storage disease. The skeletal remains of EP-III-4-No.107 from the Eunpyeong site, although incomplete and fragmented, provide important clues to the paleopathological diagnosis of skeletal dysplasias.

  3. Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) Population

    PubMed Central

    Woo, Eun Jin; Lee, Won-Joon; Hu, Kyung-Seok; Hwang, Jae Joon

    2015-01-01

    Skeletal dysplasias related to genetic etiologies have rarely been reported for past populations. This report presents the skeletal characteristics of an individual with dwarfism-related skeletal dysplasia from South Korea. To assess abnormal deformities, morphological features, metric data, and computed tomography scans are analyzed. Differential diagnoses include achondroplasia or hypochondroplasia, chondrodysplasia, multiple epiphyseal dysplasia, thalassemia-related hemolytic anemia, and lysosomal storage disease. The diffused deformities in the upper-limb bones and several coarsened features of the craniofacial bones indicate the most likely diagnosis to have been a certain type of lysosomal storage disease. The skeletal remains of EP-III-4-No.107 from the Eunpyeong site, although incomplete and fragmented, provide important clues to the paleopathological diagnosis of skeletal dysplasias. PMID:26488291

  4. The influence of gender and sex steroids on craniofacial nociception.

    PubMed

    Cairns, Brian E

    2007-02-01

    Several pain conditions localized to the craniofacial region show a remarkable sex-related difference in their prevalence. These conditions include temporomandibular disorders and burning mouth syndrome as well as tension-type, migraine, and cluster headaches. The mechanisms that underlie sex-related differences in the prevalence of these craniofacial pain conditions remain obscure and likely involve both physiological and psychosocial factors. In terms of physiological factors relevant to the development of headache, direct evidence of sex-related differences in the properties of dural afferent fibers or durally activated second-order trigeminal sensory neurons has yet to be provided. There is, however, evidence for sex-related differences in the response properties of afferent fibers and second-order trigeminal sensory neurons that convey nociceptive input from other craniofacial tissues associated with sex-related differences in chronic pain conditions, such as those that innervate the masseter muscle and temporomandibular joint. Further, modulation of craniofacial nociceptive input by opioidergic receptor mechanisms appears to be dependent on biological sex. Research into mechanisms that may contribute to sex-related differences in trigeminal nociceptive processing has primarily focused on effect of the female sex hormone estrogen, which appears to alter the excitability of trigeminal afferent fibers and sensory neurons to noxious stimulation of craniofacial tissues. This article discusses current knowledge of potential physiological mechanisms that could contribute to sex-related differences in certain craniofacial pain conditions.

  5. Antimicrobial surfaces for craniofacial implants: state of the art

    PubMed Central

    Actis, Lisa; Gaviria, Laura; Guda, Teja

    2013-01-01

    In an attempt to regain function and aesthetics in the craniofacial region, different biomaterials, including titanium, hydroxyapatite, biodegradable polymers and composites, have been widely used as a result of the loss of craniofacial bone. Although these materials presented favorable success rates, osseointegration and antibacterial properties are often hard to achieve. Although bone-implant interactions are highly dependent on the implant's surface characteristics, infections following traumatic craniofacial injuries are common. As such, poor osseointegration and infections are two of the many causes of implant failure. Further, as increasingly complex dental repairs are attempted, the likelihood of infection in these implants has also been on the rise. For these reasons, the treatment of craniofacial bone defects and dental repairs for long-term success remains a challenge. Various approaches to reduce the rate of infection and improve osseointegration have been investigated. Furthermore, recent and planned tissue engineering developments are aimed at improving the implants' physical and biological properties by improving their surfaces in order to develop craniofacial bone substitutes that will restore, maintain and improve tissue function. In this review, the commonly used biomaterials for craniofacial bone restoration and dental repair, as well as surface modification techniques, antibacterial surfaces and coatings are discussed. PMID:24471018

  6. The Aponeurotic Tension Model of Craniofacial Growth in Man

    PubMed Central

    Standerwick, Richard G; Roberts, W. Eugene

    2009-01-01

    Craniofacial growth is a scientific crossroad for the fundamental mechanisms of musculoskeletal physiology. Better understanding of growth and development will provide new insights into repair, regeneration and adaptation to applied loads. Traditional craniofacial growth concepts are insufficient to explain the dynamics of airway/vocal tract development, cranial rotation, basicranial flexion and the role of the cranial base in expression of facial proportions. A testable hypothesis is needed to explore the physiological pressure propelling midface growth and the role of neural factors in expression of musculoskeletal adaptation after the cessation of anterior cranial base growth. A novel model for craniofacial growth is proposed for: 1. brain growth and craniofacial adaptation up to the age of 20; 2. explaining growth force vectors; 3. defining the role of muscle plasticity as a conduit for craniofacial growth forces; and 4. describing the effect of cranial rotation in the expression of facial form. Growth of the viscerocranium is believed to be influenced by the superficial musculoaponeurotic systems (SMAS) of the head through residual tension in the occipitofrontalis muscle as a result of cephalad brain growth and cranial rotation. The coordinated effects of the regional SMAS develop a craniofacial musculoaponeurotic system (CFMAS), which is believed to affect maxillary and mandibular development. PMID:19572022

  7. Adult psychological functioning of individuals born with craniofacial anomalies.

    PubMed

    Sarwer, D B; Bartlett, S P; Whitaker, L A; Paige, K T; Pertschuk, M J; Wadden, T A

    1999-02-01

    This study represents an initial investigation into the adult psychological functioning of individuals born with craniofacial disfigurement. A total of 24 men and women born with a craniofacial anomaly completed paper and pencil measures of body image dissatisfaction, self-esteem, quality of life, and experiences of discrimination. An age- and gender-matched control group of 24 non-facially disfigured adults also completed the measures. As expected, craniofacially disfigured adults reported greater dissatisfaction with their facial appearance than did the control group. Craniofacially disfigured adults also reported significantly lower levels of self-esteem and quality of life. Dissatisfaction with facial appearance, self-esteem, and quality of life were related to self-ratings of physical attractiveness. More than one-third of craniofacially disfigured adults (38 percent) reported experiences of discrimination in employment or social settings. Among disfigured adults, psychological functioning was not related to number of surgeries, although the degree of residual facial deformity was related to increased dissatisfaction with facial appearance and greater experiences of discrimination. Results suggest that adults who were born with craniofacial disfigurement, as compared with non-facially disfigured adults, experience greater dissatisfaction with facial appearance and lower self-esteem and quality of life; however, these experiences do not seem to be universal.

  8. The aponeurotic tension model of craniofacial growth in man.

    PubMed

    Standerwick, Richard G; Roberts, W Eugene

    2009-05-22

    Craniofacial growth is a scientific crossroad for the fundamental mechanisms of musculoskeletal physiology. Better understanding of growth and development will provide new insights into repair, regeneration and adaptation to applied loads. Traditional craniofacial growth concepts are insufficient to explain the dynamics of airway/vocal tract development, cranial rotation, basicranial flexion and the role of the cranial base in expression of facial proportions. A testable hypothesis is needed to explore the physiological pressure propelling midface growth and the role of neural factors in expression of musculoskeletal adaptation after the cessation of anterior cranial base growth. A novel model for craniofacial growth is proposed for: 1. brain growth and craniofacial adaptation up to the age of 20; 2. explaining growth force vectors; 3. defining the role of muscle plasticity as a conduit for craniofacial growth forces; and 4. describing the effect of cranial rotation in the expression of facial form.Growth of the viscerocranium is believed to be influenced by the superficial musculoaponeurotic systems (SMAS) of the head through residual tension in the occipitofrontalis muscle as a result of cephalad brain growth and cranial rotation. The coordinated effects of the regional SMAS develop a craniofacial musculoaponeurotic system (CFMAS), which is believed to affect maxillary and mandibular development.

  9. A longitudinal study of the effects of surgery, radiation, growth hormone, and orthodontic therapy on the craniofacial skeleton of a patient evidencing hypopituitarism and a Class II malocclusion: report of a case.

    PubMed

    Newman, G V; Newman, R A

    1994-12-01

    Facial growth is an important factor for the orthodontists in the timing of treatment of the patient with a Class II malocclusion who has a potential for retarded growth. This patient had an isolated idiopathic growth hormone deficiency and hypothyroidism and was treated during a circumpubertal growth spurt in two phases. The first phase involved a functional appliance and the second was accomplished with fixed appliances. The case report affords one of the rare opportunities to document and analyze the multifactorial effects of surgery, radiation, growth and thyroid hormones, and orthodontic treatment on the craniofacial growth of a patient evidencing a Class II, Division 1 malocclusion (retrognathic mandible). Hand-wrist, panoramic, cephalometric radiographs, dental, and skeletal height and weight measurements are employed. Six-year posttreatment dental and craniofacial skeletal changes and management problems are presented as well.

  10. Etiology of craniofacial malformations in mouse models of blepharophimosis, ptosis and epicanthus inversus syndrome.

    PubMed

    Heude, Églantine; Bellessort, Brice; Fontaine, Anastasia; Hamazaki, Manatsu; Treier, Anna-Corina; Treier, Mathias; Levi, Giovanni; Narboux-Nême, Nicolas

    2015-03-15

    Blepharophimosis, ptosis, epicanthus-inversus syndrome (BPES) is an autosomal dominant genetic disorder characterized by narrow palpebral fissures and eyelid levator muscle defects. BPES is often associated to premature ovarian insufficiency (BPES type I). FOXL2, a member of the forkhead transcription factor family, is the only gene known to be mutated in BPES. Foxl2 is essential for maintenance of ovarian identity, but the developmental origin of the facial malformations of BPES remains, so far, unexplained. In this study, we provide the first detailed account of the developmental processes leading to the craniofacial malformations associated to Foxl2. We show that, during development, Foxl2 is expressed both by Cranial Neural Crest Cells (CNCCs) and by Cranial Mesodermal Cells (CMCs), which give rise to skeletal (CNCCs and CMCs) and muscular (CMCs) components of the head. Using mice in which Foxl2 is selectively inactivated in either CNCCs or CMCs, we reveal that expression of Foxl2 in CNCCs is essential for the development of extraocular muscles. Indeed, inactivation of Foxl2 in CMCs has only minor effects on muscle development, whereas its inactivation in CNCCs provokes a severe hypoplasia of the levator palpabrae superioris and of the superior and inferior oblique muscles. We further show that Foxl2 deletion in either CNCCs or CMCs prevents eyelid closure and induces subtle skeletal developmental defects. Our results provide new insights in the complex developmental origin of human BPES and could help to understand the origin of other ocular anomalies associated to this syndrome.

  11. Craniofacial muscle pain: review of mechanisms and clinical manifestations.

    PubMed

    Svensson, P; Graven-Nielsen, T

    2001-01-01

    Epidemiologic surveys of temporomandibular disorders (TMD) have demonstrated that a considerable proportion of the population--up to 5% or 6%--will experience persistent pain severe enough to seek treatment. Unfortunately, the current diagnostic classification of craniofacial muscle pain is based on descriptions of signs and symptoms rather than on knowledge of pain mechanisms. Furthermore, the pathophysiology and etiology of craniofacial muscle pain are not known in sufficient detail to allow causal treatment. Many hypotheses have been proposed to explain cause-effect relationships; however, it is still uncertain what may be the cause of muscle pain and what is the effect of muscle pain. This article reviews the literature in which craniofacial muscle pain has been induced by experimental techniques in animals and human volunteers and in which the effects on somatosensory and motor function have been assessed under standardized conditions. This information is compared to the clinical correlates, which can be derived from the numerous cross-sectional studies in patients with craniofacial muscle pain. The experimental literature clearly indicates that muscle pain has significant effects on both somatosensory and craniofacial motor function. Typical somatosensory manifestations of experimental muscle pain are referred pain and increased sensitivity of homotopic areas. The craniofacial motor function is inhibited mainly during experimental muscle pain, but phase-dependent excitation is also found during mastication to reduce the amplitude and velocity of jaw movements. The underlying neurobiologic mechanisms probably involve varying combinations of sensitization of peripheral afferents, hyperexcitability of central neurons, and imbalance in descending pain modulatory systems. Reflex circuits in the brain stem seem important for the adjustment of sensorimotor function in the presence of craniofacial pain. Changes in somatosensory and motor function may therefore be

  12. The role of serotonin and neurotransmitters during craniofacial development.

    PubMed

    Moiseiwitsch, J R

    2000-01-01

    Several neurotransmitters, in particular serotonin (5-HT), have demonstrated multiple functions during early development and mid-gestational craniofacial morphogenesis. Early studies indicated that 5-HT is present in the oocyte, where it appears to function as a regulator of cell cleavage. Later, it has a significant role during gastrulation, during which there are significant areas of 5-HT uptake in the primitive streak. Subsequently, in association with neurulation, 5-HT uptake is seen in the floor plate of the developing neural tube. During neural crest formation and branchial arch formation, 5-HT has been demonstrated to facilitate cell migration and stimulate cell differentiation. During morphogenesis of the craniofacial structures, 5-HT stimulates dental development and may aid in cusp formation. All of the most commonly prescribed antidepressant drugs inhibit serotonin uptake, yet they do not appear to cause major craniofacial malformations in vivo. Given the wide spectrum of effects that 5-HT has during development, it is difficult to understand why these anti-depressants are not major teratogens. Redundancy within the system may allow receptor and uptake pathways to function normally even with lower than normal levels of circulating serotonin. Serotonin-binding proteins, that are expressed in most craniofacial regions at critical times during craniofacial development, may have a buffering capacity that maintains adequate 5-HT tissue concentrations over a wide range of 5-HT serum concentrations. Dental development appears to be particularly sensitive to even small fluctuations in concentrations of 5-HT. Therefore, it may be that children of patients who have received selective serotonergic re-uptake inhibitors (such as Prozac and Zoloft) or the less selective tricyclic anti-depressant drugs (such as Elavil) would be at a higher risk for developmental dental defects such as anodontia and hypodontia. In this review, the evidence supporting a role for 5-HT

  13. Skeletal Scintigraphy

    PubMed Central

    McDougall, I. Ross

    1979-01-01

    Skeletal scintigraphy, using phosphates or diphosphonates labeled with technetium 99m, is a sensitive method of detecting bone abnormalities. The most important and most frequent role of bone scanning is evaluating the skeletal areas in patients who have a primary cancer, especially a malignant condition that has a tendency to spread to bone areas. The bone scan is superior to bone radiographs in diagnosing these abnormalities; 15 percent to 25 percent of patients with breast, prostate or lung cancer, who have normal roentgenograms, also have abnormal scintigrams due to metastases. The majority of bone metastases appear as hot spots on the scan and are easily recognized. The incidence of abnormal bone scans in patients with early stages (I and II) of breast cancer varies from 6 percent to 26 percent, but almost invariably those patients with scan abnormalities have a poor prognosis and should be considered for additional therapies. Progression or regression of bony lesions can be defined through scanning, and abnormal areas can be identified for biopsy. The incidence of metastases in solitary scan lesions in patients with known primary tumors varies from 20 percent to 64 percent. Bone scintigraphy shows positive uptake in 95 percent of cases with acute osteomyelitis. Stress fractures and trauma suspected in battered babies can be diagnosed by scanning before there is radiological evidence. The procedure is free from acute or long-term side effects and, except in cases of very young patients, sedation is seldom necessary. Although the test is sensitive, it is not specific and therefore it is difficult to overemphasize the importance of clinical, radiographic, biochemical and scanning correlation in each patient. ImagesFigure 2.Figure 3.Figure 4.Figure 5.Figure 6.Figure 7.Figure 8.Figure 9.Figure 10. PMID:390886

  14. Morphometrics, 3D Imaging, and Craniofacial Development

    PubMed Central

    Hallgrimsson, Benedikt; Percival, Christopher J.; Green, Rebecca; Young, Nathan M.; Mio, Washington; Marcucio, Ralph

    2017-01-01

    Recent studies have shown how volumetric imaging and morphometrics can add significantly to our understanding of morphogenesis, the developmental basis for variation and the etiology of structural birth defects. On the other hand, the complex questions and diverse imaging data in developmental biology present morphometrics with more complex challenges than applications in virtually any other field. Meeting these challenges is necessary in order to understand the mechanistic basis for variation in complex morphologies. This chapter reviews the methods and theory that enable the application of modern landmark-based morphometrics to developmental biology and craniofacial development, in particular. We discuss the theoretical foundations of morphometrics as applied to development and review the basic approaches to the quantification of morphology. Focusing on geometric morphometrics, we discuss the principal statistical methods for quantifying and comparing morphological variation and covariation structure within and among groups. Finally, we discuss the future directions for morphometrics in developmental biology that will be required for approaches that enable quantitative integration across the genotype-phenotype map. PMID:26589938

  15. Cis-regulatory underpinnings of human GLI3 expression in embryonic craniofacial structures and internal organs.

    PubMed

    Abbasi, Amir A; Minhas, Rashid; Schmidt, Ansgar; Koch, Sabine; Grzeschik, Karl-Heinz

    2013-10-01

    The zinc finger transcription factor Gli3 is an important mediator of Sonic hedgehog (Shh) signaling. During early embryonic development Gli3 participates in patterning and growth of the central nervous system, face, skeleton, limb, tooth and gut. Precise regulation of the temporal and spatial expression of Gli3 is crucial for the proper specification of these structures in mammals and other vertebrates. Previously we reported a set of human intronic cis-regulators controlling almost the entire known repertoire of endogenous Gli3 expression in mouse neural tube and limbs. However, the genetic underpinning of GLI3 expression in other embryonic domains such as craniofacial structures and internal organs remain elusive. Here we demonstrate in a transgenic mice assay the potential of a subset of human/fish conserved non-coding sequences (CNEs) residing within GLI3 intronic intervals to induce reporter gene expression at known regions of endogenous Gli3 transcription in embryonic domains other than central nervous system (CNS) and limbs. Highly specific reporter expression was observed in craniofacial structures, eye, gut, and genitourinary system. Moreover, the comparison of expression patterns directed by these intronic cis-acting regulatory elements in mouse and zebrafish embryos suggests that in accordance with sequence conservation, the target site specificity of a subset of these elements remains preserved among these two lineages. Taken together with our recent investigations, it is proposed here that during vertebrate evolution the Gli3 expression control acquired multiple, independently acting, intronic enhancers for spatiotemporal patterning of CNS, limbs, craniofacial structures and internal organs.

  16. 77 FR 10540 - National Institute of Dental & Craniofacial Research; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-02-22

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  17. 75 FR 7485 - National Institute of Dental & Craniofacial Research; Notice of Closed Meeting

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    2010-02-19

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  18. 78 FR 36556 - National Institute of Dental and Craniofacial Research; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-06-18

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  19. 77 FR 8268 - National Institute of Dental & Craniofacial Research; Notice of Closed Meeting

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    2012-02-14

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  20. 78 FR 67178 - National Institute of Dental & Craniofacial Research; Notice of Closed Meetings

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-11-08

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  1. 77 FR 10539 - National Institute of Dental & Craniofacial Research; Notice of Closed Meeting

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    2012-02-22

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  2. 77 FR 10539 - National Institute of Dental & Craniofacial Research Notice of Closed Meeting

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  10. 76 FR 28996 - National Institute of Dental & Craniofacial Research; Notice of Closed Meeting

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  12. Cranio-facial clefts in pre-hispanic America.

    PubMed

    Marius-Nunez, A L; Wasiak, D T

    2015-10-01

    Among the representations of congenital malformations in Moche ceramic art, cranio-facial clefts have been portrayed in pottery found in Moche burials. These pottery vessels were used as domestic items during lifetime and funerary offerings upon death. The aim of this study was to examine archeological evidence for representations of cranio-facial cleft malformations in Moche vessels. Pottery depicting malformations of the midface in Moche collections in Lima-Peru were studied. The malformations portrayed on pottery were analyzed using the Tessier classification. Photographs were authorized by the Larco Museo.Three vessels were observed to have median cranio-facial dysraphia in association with midline cleft of the lower lip with cleft of the mandible. ML001489 portrays a median cranio-facial dysraphia with an orbital cleft and a midline cleft of the lower lip extending to the mandible. ML001514 represents a median facial dysraphia in association with an orbital facial cleft and a vertical orbital dystopia. ML001491 illustrates a median facial cleft with a soft tissue cleft. Three cases of midline, orbital and lateral facial clefts have been portrayed in Moche full-figure portrait vessels. They represent the earliest registries of congenital cranio-facial malformations in ancient Peru.

  13. Zebrafish Craniofacial Development: A Window into Early Patterning

    PubMed Central

    Mork, Lindsey; Crump, Gage

    2016-01-01

    The formation of the face and skull involves a complex series of developmental events mediated by cells derived from the neural crest, endoderm, mesoderm, and ectoderm. Although vertebrates boast an enormous diversity of adult facial morphologies, the fundamental signaling pathways and cellular events that sculpt the nascent craniofacial skeleton in the embryo have proven to be highly conserved from fish to man. The zebrafish Danio rerio, a small freshwater cyprinid fish from eastern India, has served as a popular model of craniofacial development since the 1990s. Unique strengths of the zebrafish model include a simplified skeleton during larval stages, access to rapidly developing embryos for live imaging, and amenability to transgenesis and complex genetics. In this chapter, we describe the anatomy of the zebrafish craniofacial skeleton; its applications as models for the mammalian jaw, middle ear, palate, and cranial sutures; the superior imaging technology available in fish that has provided unprecedented insights into the dynamics of facial morphogenesis; the use of the zebrafish to decipher the genetic underpinnings of craniofacial biology; and finally a glimpse into the most promising future applications of zebrafish craniofacial research. PMID:26589928

  14. In vitro quantification of strain patterns in the craniofacial skeleton due to masseter and temporalis activities.

    PubMed

    Maloul, Asmaa; Regev, Eran; Whyne, Cari M; Beek, Marteen; Fialkov, Jeffrey A

    2012-09-01

    Many complications in craniofacial surgery can be attributed to a lack of characterization of facial skeletal strain patterns. This study aimed to delineate human midfacial strain patterns under uniform muscle loading. The left sides of 5 fresh-frozen human cadaveric heads were dissected of all soft tissues except the temporalis and masseter muscles. Tensile forces were applied to the free mandibular ends of the muscles. Maxillary alveolar arches were used to restrain the skulls. Eight strain gauges were bonded to the surface of the midface to measure the strain under single muscle loading conditions (100 N). Maxillary strain gauges revealed a biaxial load state for both muscles. Thin antral bone experienced high maximum principal tensile strains (maximum of 685.5 με) and high minimum principal compressive strains (maximum of -722.44 με). Similar biaxial patterns of lower magnitude were measured on the zygoma (maximum of 208.59 με for maximum principal strains and -78.11 με for minimum principal strains). Results, consistent for all specimens and counter to previously accepted concepts of biomechanical behavior of the midface under masticatory muscle loading, included high strain in the thin maxillary antral wall, rotational bending through the maxilla and zygoma, and a previously underestimated contribution of the temporalis muscle. This experimental model produced repeatable strain patterns quantifying the mechanics of the facial skeleton. These new counterintuitive findings underscore the need for accurate characterization of craniofacial strain patterns to address problems in the current treatment methods and develop robust design criteria.

  15. Roles of GASP-1 and GDF-11 in Dental and Craniofacial Development

    PubMed Central

    Lee, Yun-Sil; Lee, Se-Jin

    2016-01-01

    Purpose Growth and differentiation factor-11 (GDF-11) is a TGF-β family member that plays important regulatory roles in development of multiple tissues which include axial skeletal patterning, palatal closure, and tooth formation. Proteins that have been identified as GDF-11 inhibitors include GDF-associated serum protein-1 (GASP-1) and GASP-2. Recently, we found that mice genetically engineered to lack both Gasp1 and Gdf11 have an increased frequency of cleft palate. The goal of this study was to investigate the roles of GDF-11 and its inhibitors, GASP-1 and GASP-2, during dental and craniofacial development and growth. Methods Mouse genetic studies were used in this study. Homozygous knockout mice for Gasp1 (Gasp1−/−) and Gasp2 (Gasp2−/−) were viable and fertile, but Gdf11 homozygous knockout (Gdf11−/−) mice died within 24 hours after birth. The effect of either Gasp1 or Gasp2 deletion in Gdf11−/− mice during embryogenesis was evaluated in Gasp1−/−;Gdf11−/− and Gasp2−/−;Gdf11−/− mouse embryos at 18.5 days post-coitum (E18.5). For the analysis of adult tissues, we used Gasp1−/−;Gdf11+/− and Gasp2−/−;Gdf11+/− mice to evaluate the potential haploinsufficiency of Gdf11 in Gasp1−/− and Gasp2−/− mice. Results Although Gasp2 expression decreased after E10.5, Gasp1 expression was readily detected in various ectodermal tissues at E17.5, including hair follicles, epithelium in nasal cavity, retina, and developing tooth buds. Interestingly, Gasp1−/−;Gdf11−/− mice had abnormal formation of lower incisors: tooth buds for lower incisors were under-developed or missing. Although Gdf11+/− mice were viable and had mild transformations of the axial skeleton, no specific defects in the craniofacial development have been observed in Gdf11+/− mice. However, loss of Gasp1 in Gdf11+/− mice occasionally resulted in small and abnormally shaped auricles. Conclusions These findings suggest that both GASP-1 and GDF-11 play

  16. Bleeding management for pediatric craniotomies and craniofacial surgery.

    PubMed

    Goobie, Susan M; Haas, Thorsten

    2014-07-01

    Pediatric patients when undergoing craniotomies and craniofacial surgery may potentially have significant blood loss. The amount and extent will be dictated by the nature of the surgical procedure, the proximity to major blood vessels, and the age, and weight of the patient. The goals should be to maintain hemodynamic stability and oxygen carrying capacity and to prevent and treat hyperfibrinolysis and dilutional coagulopathy. Over transfusion and transfusion-related side effects should be minimized. This article will highlight the pertinent considerations for managing massive blood loss in pediatric patients undergoing craniotomies and craniofacial surgery. North American and European guidelines for intraoperative administration of fluid and blood products will be discussed.

  17. The fourth dimension in simulation surgery for craniofacial surgical procedures.

    PubMed

    Kurihara, T

    2001-03-01

    The intracranial volume was measured in all 18 cases of craniosynostosis and craniofacial synostosis with 3DCT using a modification of Miyake's formula, with a 6 years' follow-up. 1: There were no cases where the intracranial volume was less than the modified Miyake's formula. 2: Total cranial reshaping, compared to the local forehead advancement, was effective in increasing the intracranial cavity and growth postoperatively. 3: In cases of craniofacial synostosis, there is a possibility that mental retardation will develop if the intracranial volume tends to increase rapidly and more than expected.

  18. The oral and craniofacial relevance of chemically modified RNA therapeutics.

    PubMed

    Elangovan, Satheesh; Kormann, Michael S D; Khorsand, Behnoush; Salem, Aliasger K

    2016-01-01

    Several tissue engineering strategies in the form of protein therapy, gene therapy, cell therapy, and their combinations are currently being explored for oral and craniofacial regeneration and repair. Though each of these approaches has advantages, they all have common inherent drawbacks of being expensive and raising safety concerns. Using RNA (encoding therapeutic protein) has several advantages that have the potential to overcome these limitations. Chemically modifying the RNA improves its stability and mitigates immunogenicity allowing for the potential of RNA to become an alternative to protein and gene based therapies. This brief review article focuses on the potential of RNA therapeutics in the treatment of disorders in the oral and craniofacial regions.

  19. Obstructive sleep apnoea in children with craniofacial syndromes

    PubMed Central

    Cielo, Christopher M.

    2014-01-01

    Summary Obstructive sleep apnoea syndrome (OSAS) is common in children. Craniofacial anomalies such as cleft palate are among the most common congenital conditions. Children with a variety of craniofacial conditions, including cleft palate, micrognathia, craniosynostosis, and midface hypoplasia are at increased risk for OSAS. Available evidence, which is largely limited to surgical case series and retrospective studies, suggests that OSAS can be successfully managed in these children through both surgical and non-surgical techniques. Prospective studies using larger cohorts of patients and including polysomnograms are needed to better understand the risk factors for this patient population and the efficacy of treatment options for OSAS and their underlying conditions. PMID:25555676

  20. A nonsynonymous mutation in the transcriptional regulator lbh is associated with cichlid craniofacial adaptation and neural crest cell development.

    PubMed

    Powder, Kara E; Cousin, Hélène; McLinden, Gretchen P; Craig Albertson, R

    2014-12-01

    Since the time of Darwin, biologists have sought to understand the origins and maintenance of life's diversity of form. However, the nature of the exact DNA mutations and molecular mechanisms that result in morphological differences between species remains unclear. Here, we characterize a nonsynonymous mutation in a transcriptional coactivator, limb bud and heart homolog (lbh), which is associated with adaptive variation in the lower jaw of cichlid fishes. Using both zebrafish and Xenopus, we demonstrate that lbh mediates migration of cranial neural crest cells, the cellular source of the craniofacial skeleton. A single amino acid change that is alternatively fixed in cichlids with differing facial morphologies results in discrete shifts in migration patterns of this multipotent cell type that are consistent with both embryological and adult craniofacial phenotypes. Among animals, this polymorphism in lbh represents a rare example of a coding change that is associated with continuous morphological variation. This work offers novel insights into the development and evolution of the craniofacial skeleton, underscores the evolutionary potential of neural crest cells, and extends our understanding of the genetic nature of mutations that underlie divergence in complex phenotypes.

  1. A Nonsynonymous Mutation in the Transcriptional Regulator lbh Is Associated with Cichlid Craniofacial Adaptation and Neural Crest Cell Development

    PubMed Central

    Powder, Kara E.; Cousin, Hélène; McLinden, Gretchen P.; Craig Albertson, R.

    2014-01-01

    Since the time of Darwin, biologists have sought to understand the origins and maintenance of life’s diversity of form. However, the nature of the exact DNA mutations and molecular mechanisms that result in morphological differences between species remains unclear. Here, we characterize a nonsynonymous mutation in a transcriptional coactivator, limb bud and heart homolog (lbh), which is associated with adaptive variation in the lower jaw of cichlid fishes. Using both zebrafish and Xenopus, we demonstrate that lbh mediates migration of cranial neural crest cells, the cellular source of the craniofacial skeleton. A single amino acid change that is alternatively fixed in cichlids with differing facial morphologies results in discrete shifts in migration patterns of this multipotent cell type that are consistent with both embryological and adult craniofacial phenotypes. Among animals, this polymorphism in lbh represents a rare example of a coding change that is associated with continuous morphological variation. This work offers novel insights into the development and evolution of the craniofacial skeleton, underscores the evolutionary potential of neural crest cells, and extends our understanding of the genetic nature of mutations that underlie divergence in complex phenotypes. PMID:25234704

  2. Investigation of the effects of estrogen on skeletal gene expression during zebrafish larval head development

    PubMed Central

    Walker, Benjamin S.; Lassiter, Christopher S.; Jónsson, Zophonías O.

    2016-01-01

    The development of craniofacial skeletal structures requires well-orchestrated tissue interactions controlled by distinct molecular signals. Disruptions in normal function of these molecular signals have been associated with a wide range of craniofacial malformations. A pathway mediated by estrogens is one of those molecular signals that plays role in formation of bone and cartilage including craniofacial skeletogenesis. Studies in zebrafish have shown that while higher concentrations of 17-β estradiol (E2) cause severe craniofacial defects, treatment with lower concentrations result in subtle changes in head morphology characterized with shorter snouts and flatter faces. The molecular basis for these morphological changes, particularly the subtle skeletal effects mediated by lower E2 concentrations, remains unexplored. In the present study we address these effects at a molecular level by quantitative expression analysis of sets of candidate genes in developing heads of zebrafish larvae treated with two different E2 concentrations. To this end, we first validated three suitable reference genes, ppia2, rpl8 and tbp, to permit sensitive quantitative real-time PCR analysis. Next, we profiled the expression of 28 skeletogenesis-associated genes that potentially respond to estrogen signals and play role in craniofacial development. We found E2 mediated differential expression of genes involved in extracellular matrix (ECM) remodelling, mmp2/9/13, sparc and timp2a, as well as components of skeletogenic pathways, bmp2a, erf, ptch1/2, rankl, rarab and sfrp1a. Furthermore, we identified a co-expressed network of genes, including cpn1, dnajc3, esr1, lman1, rrbp1a, ssr1 and tram1 with a stronger inductive response to a lower dose of E2 during larval head development. PMID:27069811

  3. Sensitive windows of skeletal development in rabbits determined by hydroxyurea exposure at different times throughout gestation.

    PubMed

    Campion, Sarah N; Davenport, Scott J; Nowland, William S; Cappon, Gregg D; Bowman, Christopher J; Hurtt, Mark E

    2012-06-01

    The critical periods of axial skeletal development in rats and mice have been well characterized, however the timing of skeletal development in rabbits is not as well known. It is important to have a more precise understanding of this timing of axial skeletal development in rabbits due to the common use of this species in standard nonclinical studies to assess embryo-fetal developmental toxicity. Hydroxyurea, a teratogen known to induce a variety of fetal skeletal malformations, was administered to New Zealand White rabbits as a single dose (500 mg/kg) on individual days during gestation (gestation day, GD 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, or 19) and fetal external, visceral, and skeletal morphology was examined following cesarean sections on GD 29. A wide range of fetal skeletal effects was observed following hydroxyurea treatment, with a progression of malformations from anterior to posterior structures over time, as well as from proximal to distal structures over time. The sensitive window of axial skeletal development was determined to be GD 8 to 13, while disruption of appendicular and cranio-facial skeletal development occurred primarily from GD 11 to 16 and GD 11 to 12, respectively. The results of this study provide a better understanding of the critical developmental window for different segments of the rabbit skeleton, which will aid in the design of window studies to investigate teratogenicity in rabbits.

  4. Skeletal limb abnormalities

    MedlinePlus

    ... medlineplus.gov/ency/article/003170.htm Skeletal limb abnormalities To use the sharing features on this page, please enable JavaScript. Skeletal limb abnormalities refers to a variety of bone structure problems ...

  5. Trigeminal branch stimulation for the treatment of intractable craniofacial pain.

    PubMed

    Ellis, Jason A; Mejia Munne, Juan C; Winfree, Christopher J

    2015-07-01

    OBJECT Trigeminal branch stimulation has been used in the treatment of craniofacial pain syndromes. The risks and benefits of such an approach have not been clearly delineated in large studies, however. The authors report their experience in treating craniofacial pain with trigeminal branch stimulation and share the lessons they have learned after 93 consecutive electrode placements. METHODS A retrospective review of all patients who underwent trigeminal branch electrode placement by the senior author (C.J.W.) for the treatment of craniofacial pain was performed. RESULTS Thirty-five patients underwent implantation of a total of 93 trial and permanent electrodes between 2006 and 2013. Fifteen patients who experienced improved pain control after trial stimulation underwent implantation of permanent stimulators and were followed for an average of 15 months. At last follow-up 73% of patients had improvement in pain control, whereas only 27% of patients had no pain improvement. No serious complications were seen during the course of this study. CONCLUSIONS Trigeminal branch stimulation is a safe and effective treatment for a subset of patients with intractable craniofacial pain.

  6. Surgical treatment of craniofacial fibrous dysplasia in adults.

    PubMed

    Bowers, Christian A; Taussky, Philipp; Couldwell, William T

    2014-01-01

    Craniofacial fibrous dysplasia (FD) is a rare disorder that may require neurosurgical expertise for definitive management; however, surgical management of FD in adult patients is uncommon. Although other therapies have been shown to slow progression, the only definitive cure for adult craniofacial FD is complete resection with subsequent reconstruction. The authors review the biological, epidemiologic, clinical, genetic, and radiographic characteristics of adult FD, with an emphasis on surgical management of FD. They present a small series of three adult patients with complex FD that highlights the surgical complexity required in some adult patients with FD. Because of the complex nature of these adult polyostotic craniofacial cases, the authors used neurosurgical techniques specific to the different surgical indications, including a transsphenoidal approach for resection of sphenoidal sinus FD, a transmaxillary approach to decompress the maxillary branch of the trigeminal nerve with widening of the foramen rotundum, and complete calvarial craniectomy with cranioplasty reconstruction. These cases exemplify the diverse range of skull base techniques required in the spectrum of surgical management of adult FD and demonstrate that novel variations on standard neurosurgical approaches to the skull base can provide successful outcomes with minimal complications in adults with complex craniofacial FD.

  7. Analysis of the 50 most cited papers in craniofacial surgery.

    PubMed

    Tahiri, Youssef; Fleming, Tara M; Greathouse, Travis; Tholpady, Sunil S

    2015-12-01

    The intent of this study is to discuss the most prominent literature in craniofacial surgery. To do so, using the ISI Web of Science, a ranking by average number of citations per year of the top 50 craniofacial surgery articles was compiled. All plastic surgery journals listed in the "Surgery" category in the ISI Web of Knowledge Journal Citation Reports 2013 Science Edition were considered. Journal of publication, country of origin, collaborating institutions, topic of interest, and level of evidence were analyzed. The total number of citations ranged from 47 to 1017. Average number of citations per year ranged from 46.2 to 8.6. The oldest article in the top 50 was published in 1988 and the most recent in 2009. The majority of the articles came from Plastic and Reconstructive Surgery with 28 of the 50. The majority of the articles, originated from the United States (56%). Reconstruction of acquired defects was the most commonly examined topic at 46.2%; followed by articles discussing reconstruction of congenital defects (23.1%). The most common level of evidence was level 3. This extensive examination of the craniofacial literature highlights the important part that craniofacial surgery takes in the field of plastic surgery.

  8. The genesis of craniofacial biology as a health science discipline.

    PubMed

    Sperber, G H; Sperber, S M

    2014-06-01

    The craniofacial complex encapsulates the brain and contains the organs for key functions of the body, including sight, hearing and balance, smell, taste, respiration and mastication. All these systems are intimately integrated within the head. The combination of these diverse systems into a new field was dictated by the dental profession's desire for a research branch of basic science devoted and attuned to its specific needs. The traditional subjects of genetics, embryology, anatomy, physiology, biochemistry, dental materials, odontology, molecular biology and palaeoanthropology pertaining to dentistry have been drawn together by many newly emerging technologies. These new technologies include gene sequencing, CAT scanning, MRI imaging, laser scanning, image analysis, ultrasonography, spectroscopy and visualosonics. A vibrant unitary discipline of investigation, craniofacial biology, has emerged that builds on the original concept of 'oral biology' that began in the 1960s. This paper reviews some of the developments that have led to the genesis of craniofacial biology as a fully-fledged health science discipline of significance in the advancement of clinical dental practice. Some of the key figures and milestones in craniofacial biology are identified.

  9. Hutchinson-Gilford progeria syndrome: Oral and craniofacial phenotypes

    PubMed Central

    Domingo, D.L.; Trujillo, M.I.; Council, S.E.; Merideth, M.A.; Gordon, L.B.; Wu, T.; Introne, W.J.; Gahl, W.A.; Hart, T.C.

    2008-01-01

    OBJECTIVE Hutchinson-Gilford progeria syndrome (HGPS) is a rare early-onset accelerated senescence syndrome. In HGPS, a recently identified de novo dominant mutation of the lamin A gene (LMNA) produces abnormal lamin A, resulting in compromised nuclear membrane integrity. Clinical features include sclerotic skin, cardiovascular and bone abnormalities, and marked growth retardation. Craniofacial features include “bird-like” facies, alopecia, craniofacial disproportion and dental crowding. Our prospective study describes dental, oral soft tissue, and craniofacial bone features in HGPS. METHODS Fifteen patients with confirmed p.G608G LMNA mutation (1–17 years, 7 males, 8 females) received comprehensive oral evaluations. Anomalies of oral soft tissue, gnathic bones and dentition were identified. RESULTS Radiographic findings included hypodontia (n=7), dysmorphic teeth (n=5), steep mandibular angles (n=11), and thin basal bone (n=11). Soft tissue findings included ogival palatal arch (n=8), median sagittal palatal fissure (n=7), and ankyloglossia (n=7). Calculated dental ages (9months–11y2m) were significantly lower than chronological ages (1y6m–17y8m) (p=0.002). Eleven children manifested a shorter mandibular body, anterior/posterior cranial base and ramus, but a larger gonial angle, compared to age/gender/race norms. CONCLUSION Novel oral-craniofacial phenotypes and quantification of previously reported features are presented. Our findings expand the HGPS phenotype and provide additional insight into the complex pathogenesis of HGPS. PMID:19236595

  10. Morphological comparison of cervical vertebrae in adult females with different sagittal craniofacial patterns: A cross-sectional study

    PubMed Central

    Alkan, Özer; Aydoğan, Cihan; Akkaya, Sevil

    2016-01-01

    Introduction: Cervical vertebral maturation (CVM) methods have gained popularity to assess growth and development status for orthodontic patients. Although craniofacial and craniocervical structures are known to be associated, there is no evidence in the literature if this relation might negatively affect the accuracy of CVM assessments. Therefore, this study aimed to comparatively investigate the sizes of the 2nd, 3rd, and 4th cervical vertebrae in adult females (radius union stage of skeletal maturity) who have different sagittal skeletal patterns. Materials and Methods: A cross-sectional study was conducted, and 151 lateral cephalometric radiographs of adult female patients were assessed in the study. Patients were assigned to three groups according to ANB angle. Parameters including concavity depth at the lower border of the 2nd, 3rd, and 4th cervical vertebrae and base length, upper border length, body length, posterior height, anterior height, and body height of the 3rd and 4th cervical vertebrae bodies were measured. One-way analysis of variance was used for between-group comparisons. Results: No statistically significant differences were found between groups in terms of concavity depth at the lower borders of the 2nd, 3rd, and 4th cervical vertebrae (P > 0.05). Base length, upper border length, body length, posterior height, anterior height, and body height of the 3rd and 4th cervical vertebrae were also similar between groups (P > 0.05). Conclusions: The results of this study supports that sagittal craniofacial pattern has no effect on the accuracy of using the methods assessing CVM and calculating cervical vertebral age. PMID:27630474

  11. Craniofacial pain and jaw-muscle activity during sleep.

    PubMed

    Yachida, W; Castrillon, E E; Baad-Hansen, L; Jensen, R; Arima, T; Tomonaga, A; Ohata, N; Svensson, P

    2012-06-01

    This study compared the jaw-muscle electromyographic (EMG) activity during sleep in patients with craniofacial pain (n = 63) or no painful conditions (n = 52) and between patients with tension-type headache (TTH: n = 30) and healthy control individuals (n = 30). All participants used a portable single-channel EMG device (Medotech A/S) for four nights. There was no significant difference in EMG activity between craniofacial pain (24.5 ± 17.9 events/hr) and no painful conditions (19.7 ± 14.5), or between TTH (20.8 ± 15.0) and healthy control individuals (15.2 ± 11.6, p >.050). There were positive correlations between EMG activity and number of painful muscles (r = 0.188; p = 0.044), characteristic pain intensity (r = 0.187; p = 0.046), McGill Pain Questionnaire (r = 0.251; p = 0.008), and depression scores (r = 0.291; p = 0.002). Patients with painful conditions had significantly higher night-to-night variability compared with pain-free individuals (p < 0.050). This short-term observational study suggests that there are no major differences between patients with different craniofacial pain conditions and pain-free individuals in terms of jaw-muscle EMG activity recorded with a single-channel EMG device during sleep. However, some associations may exist between the level of EMG activity and various parameters of craniofacial pain. Longitudinal studies are warranted to further explore the relationship between sleep bruxism and craniofacial pain.

  12. The Roles of RNA Polymerase I and III Subunits Polr1c and Polr1d in Craniofacial Development and in Zebrafish Models of Treacher Collins Syndrome

    PubMed Central

    Achilleos, Annita; Neben, Cynthia L.; Merrill, Amy E.; Trainor, Paul A.

    2016-01-01

    Ribosome biogenesis is a global process required for growth and proliferation of all cells, yet perturbation of ribosome biogenesis during human development often leads to tissue-specific defects termed ribosomopathies. Transcription of the ribosomal RNAs (rRNAs) by RNA polymerases (Pol) I and III, is considered a rate limiting step of ribosome biogenesis and mutations in the genes coding for RNA Pol I and III subunits, POLR1C and POLR1D cause Treacher Collins syndrome, a rare congenital craniofacial disorder. Our understanding of the functions of individual RNA polymerase subunits, however, remains poor. We discovered that polr1c and polr1d are dynamically expressed during zebrafish embryonic development, particularly in craniofacial tissues. Consistent with this pattern of activity, polr1c and polr1d homozygous mutant zebrafish exhibit cartilage hypoplasia and cranioskeletal anomalies characteristic of humans with Treacher Collins syndrome. Mechanistically, we discovered that polr1c and polr1d loss-of-function results in deficient ribosome biogenesis, Tp53-dependent neuroepithelial cell death and a deficiency of migrating neural crest cells, which are the primary progenitors of the craniofacial skeleton. More importantly, we show that genetic inhibition of tp53 can suppress neuroepithelial cell death and ameliorate the skeletal anomalies in polr1c and polr1d mutants, providing a potential avenue to prevent the pathogenesis of Treacher Collins syndrome. Our work therefore has uncovered tissue-specific roles for polr1c and polr1d in rRNA transcription, ribosome biogenesis, and neural crest and craniofacial development during embryogenesis. Furthermore, we have established polr1c and polr1d mutant zebrafish as models of Treacher Collins syndrome together with a unifying mechanism underlying its pathogenesis and possible prevention. PMID:27448281

  13. A survey of dentists in the United States regarding a specialty in craniofacial pain.

    PubMed

    Simmons, H Clifton; Kilpatrick, Steven R

    2004-01-01

    In an effort to explore whether a specialty for craniofacial pain is warranted, the American Academy of Craniofacial Pain (AACP) commissioned an opinion survey of dentists. The survey population (N=4000) was stratified by specialty, so that dentists in affected areas would be adequately represented: 500 orthodontists and dentofacial orthopedists, 500 oral and maxillofacial surgeons, 500 periodontists, 500 prosthodontists, and 2,000 general practitioners. A total of 930 dentists responded for a 23.2% response rate. The survey had multiple purposes: 1. to measure the percentage of craniofacial pain patients perceived in dental patient populations; 2. to determine whether each dentist prefers to treat the disorder or; 3. prefers to refer craniofacial pain patients to clinicians specializing in the disorder; and 4. whether dentists favor/oppose the formation of a craniofacial pain specialty. The respondents' perception of the prevalence of craniofacial pain among their patients was 13.9%. A majority of the responding dentists, 54.7%, are in favor of a craniofacial pain specialty. Overall, 65% of dentists treat craniofacial pain patients, although more than half, 55%, of all dentists also refer such patients. Even 43.6% of dentists who regularly treat craniofacial pain favor a specialty, while 76% of those who do not treat such patients favor the specialty. The data presented here advocate development of a dental specialty in craniofacial pain.

  14. Defective Craniofacial Development and Brain Function in a Mouse Model for Depletion of Intracellular Inositol Synthesis*

    PubMed Central

    Ohnishi, Tetsuo; Murata, Takuya; Watanabe, Akiko; Hida, Akiko; Ohba, Hisako; Iwayama, Yoshimi; Mishima, Kazuo; Gondo, Yoichi; Yoshikawa, Takeo

    2014-01-01

    myo-Inositol is an essential biomolecule that is synthesized by myo-inositol monophosphatase (IMPase) from inositol monophosphate species. The enzymatic activity of IMPase is inhibited by lithium, a drug used for the treatment of mood swings seen in bipolar disorder. Therefore, myo-inositol is thought to have an important role in the mechanism of bipolar disorder, although the details remain elusive. We screened an ethyl nitrosourea mutant mouse library for IMPase gene (Impa) mutations and identified an Impa1 T95K missense mutation. The mutant protein possessed undetectable enzymatic activity. Homozygotes died perinatally, and E18.5 embryos exhibited striking developmental defects, including hypoplasia of the mandible and asymmetric fusion of ribs to the sternum. Perinatal lethality and morphological defects in homozygotes were rescued by dietary myo-inositol. Rescued homozygotes raised on normal drinking water after weaning exhibited a hyper-locomotive trait and prolonged circadian periods, as reported in rodents treated with lithium. Our mice should be advantageous, compared with those generated by the conventional gene knock-out strategy, because they carry minimal genomic damage, e.g. a point mutation. In conclusion, our results reveal critical roles for intracellular myo-inositol synthesis in craniofacial development and the maintenance of proper brain function. Furthermore, this mouse model for cellular inositol depletion could be beneficial for understanding the molecular mechanisms underlying the clinical effect of lithium and myo-inositol-mediated skeletal development. PMID:24554717

  15. COLEC10 is mutated in 3MC patients and regulates early craniofacial development

    PubMed Central

    Munye, Mustafa M.; Diaz-Font, Anna; Ocaka, Louise; Henriksen, Maiken L.; Brady, Angela; Jenkins, Dagan; Morton, Jenny; Hansen, Soren W.; Bacchelli, Chiara; Beales, Philip L.

    2017-01-01

    3MC syndrome is an autosomal recessive heterogeneous disorder with features linked to developmental abnormalities. The main features include facial dysmorphism, craniosynostosis and cleft lip/palate; skeletal structures derived from cranial neural crest cells (cNCC). We previously reported that lectin complement pathway genes COLEC11 and MASP1/3 are mutated in 3MC syndrome patients. Here we define a new gene, COLEC10, also mutated in 3MC families and present novel mutations in COLEC11 and MASP1/3 genes in a further five families. The protein products of COLEC11 and COLEC10, CL-K1 and CL-L1 respectively, form heteromeric complexes. We show COLEC10 is expressed in the base membrane of the palate during murine embryo development. We demonstrate how mutations in COLEC10 (c.25C>T; p.Arg9Ter, c.226delA; p.Gly77Glufs*66 and c.528C>G p.Cys176Trp) impair the expression and/or secretion of CL-L1 highlighting their pathogenicity. Together, these findings provide further evidence linking the lectin complement pathway and complement factors COLEC11 and COLEC10 to morphogenesis of craniofacial structures and 3MC etiology. PMID:28301481

  16. COLEC10 is mutated in 3MC patients and regulates early craniofacial development.

    PubMed

    Munye, Mustafa M; Diaz-Font, Anna; Ocaka, Louise; Henriksen, Maiken L; Lees, Melissa; Brady, Angela; Jenkins, Dagan; Morton, Jenny; Hansen, Soren W; Bacchelli, Chiara; Beales, Philip L; Hernandez-Hernandez, Victor

    2017-03-16

    3MC syndrome is an autosomal recessive heterogeneous disorder with features linked to developmental abnormalities. The main features include facial dysmorphism, craniosynostosis and cleft lip/palate; skeletal structures derived from cranial neural crest cells (cNCC). We previously reported that lectin complement pathway genes COLEC11 and MASP1/3 are mutated in 3MC syndrome patients. Here we define a new gene, COLEC10, also mutated in 3MC families and present novel mutations in COLEC11 and MASP1/3 genes in a further five families. The protein products of COLEC11 and COLEC10, CL-K1 and CL-L1 respectively, form heteromeric complexes. We show COLEC10 is expressed in the base membrane of the palate during murine embryo development. We demonstrate how mutations in COLEC10 (c.25C>T; p.Arg9Ter, c.226delA; p.Gly77Glufs*66 and c.528C>G p.Cys176Trp) impair the expression and/or secretion of CL-L1 highlighting their pathogenicity. Together, these findings provide further evidence linking the lectin complement pathway and complement factors COLEC11 and COLEC10 to morphogenesis of craniofacial structures and 3MC etiology.

  17. Early orthodontic treatment of skeletal Class II malocclusion may be effective to prevent the potential for OSAHS and snoring.

    PubMed

    Li, Yongming

    2009-10-01

    OSAHS or snoring is an important condition within our community with the potential of being a significant health burden. Although the precise pathogenesis of upper airway obstruction during sleep remains uncertain in OSAHS and snoring patients, craniofacial risk factors are said to be associated with OSAHS and snoring. Since a high number of OSAHS and snoring patients consist of skeletal Class II malocclusion patients characterized by deficient mandible, then we can make the hypotheses that early orthodontic treatment of skeletal Class II malocclusion patients to improve such discrepancies during the growth period may be effective to prevent the potential for OSAHS and snoring.

  18. Myogenic Potential of Canine Craniofacial Satellite Cells

    PubMed Central

    La Rovere, Rita Maria Laura; Quattrocelli, Mattia; Pietrangelo, Tiziana; Di Filippo, Ester Sara; Maccatrozzo, Lisa; Cassano, Marco; Mascarello, Francesco; Barthélémy, Inès; Blot, Stephane; Sampaolesi, Maurilio; Fulle, Stefania

    2014-01-01

    The skeletal fibers have different embryological origin; the extraocular and jaw-closer muscles develop from prechordal mesoderm while the limb and trunk muscles from somites. These different origins characterize also the adult muscle stem cells, known as satellite cells (SCs) and responsible for the fiber growth and regeneration. The physiological properties of presomitic SCs and their epigenetics are poorly studied despite their peculiar characteristics to preserve muscle integrity during chronic muscle degeneration. Here, we isolated SCs from canine somitic [somite-derived muscle (SDM): vastus lateralis, rectus abdominis, gluteus superficialis, biceps femoris, psoas] and presomitic [pre-somite-derived muscle (PSDM): lateral rectus, temporalis, and retractor bulbi] muscles as myogenic progenitor cells from young and old animals. In addition, SDM and PSDM-SCs were obtained also from golden retrievers affected by muscular dystrophy (GRMD). We characterized the lifespan, the myogenic potential and functions, and oxidative stress of both somitic and presomitic SCs with the aim to reveal differences with aging and between healthy and dystrophic animals. The different proliferation rate was consistent with higher telomerase activity in PSDM-SCs compared to SDM-SCs, although restricted at early passages. SDM-SCs express early (Pax7, MyoD) and late (myosin heavy chain, myogenin) myogenic markers differently from PSDM-SCs resulting in a more efficient and faster cell differentiation. Taken together, our results showed that PSDM-SCs elicit a stronger stem cell phenotype compared to SDM ones. Finally, myomiR expression profile reveals a unique epigenetic signature in GRMD SCs and miR-206, highly expressed in dystrophic SCs, seems to play a critical role in muscle degeneration. Thus, miR-206 could represent a potential target for novel therapeutic approaches. PMID:24860499

  19. Fibrous dysplasia of bone: craniofacial and dental implications.

    PubMed

    Burke, A B; Collins, M T; Boyce, A M

    2016-08-05

    Fibrous dysplasia (FD) is a rare bone disease caused by postzygotic somatic activating mutations in the GNAS gene, which lead to constitutive activation of adenylyl cyclase and elevated levels of cyclic AMP, which act on downstream signaling pathways and cause normal bone to be replaced with fibrous tissue and abnormal (woven) bone. The bone disease may occur in one bone (monostotic), multiple bones (polyostotic), or in combination with hyperfunctioning endocrinopathies and hyperpigmented skin lesions (in the setting of McCune-Albright Syndrome). FD is common in the craniofacial skeleton, causing significant dysmorphic features, bone pain, and dental anomalies. This review summarizes the pathophysiology, clinical findings, and treatment of FD, with an emphasis on the craniofacial and oral manifestations of the disease.

  20. Generation algorithm of craniofacial structure contour in cephalometric images

    NASA Astrophysics Data System (ADS)

    Mondal, Tanmoy; Jain, Ashish; Sardana, H. K.

    2010-02-01

    Anatomical structure tracing on cephalograms is a significant way to obtain cephalometric analysis. Computerized cephalometric analysis involves both manual and automatic approaches. The manual approach is limited in accuracy and repeatability. In this paper we have attempted to develop and test a novel method for automatic localization of craniofacial structure based on the detected edges on the region of interest. According to the grey scale feature at the different region of the cephalometric images, an algorithm for obtaining tissue contour is put forward. Using edge detection with specific threshold an improved bidirectional contour tracing approach is proposed by an interactive selection of the starting edge pixels, the tracking process searches repetitively for an edge pixel at the neighborhood of previously searched edge pixel to segment images, and then craniofacial structures are obtained. The effectiveness of the algorithm is demonstrated by the preliminary experimental results obtained with the proposed method.

  1. Coordinate systems integration for development of malaysian craniofacial database.

    PubMed

    Rajion, Zainul; Suwardhi, Deni; Setan, Halim; Chong, Albert; Majid, Zulkepli; Ahmad, Anuar; Rani Samsudin, Ab; Aziz, Izhar; Wan Harun, W A R

    2005-01-01

    This study presents a data registration method for craniofacial spatial data of different modalities. The data consists of three dimensional (3D) vector and raster data models. The data is stored in object relational database. The data capture devices are Laser scanner, CT (Computed Tomography) scan and CR (Close Range) Photogrammetry. The objective of the registration is to transform the data from various coordinate systems into a single 3-D Cartesian coordinate system. The standard error of the registration obtained from multimodal imaging devices using 3D affine transformation is in the ranged of 1-2 mm. This study is a step forward for storing the spatial craniofacial data in one reference system in database.

  2. Craniofacial abnormalities in Hutchinson-Gilford progeria syndrome.

    PubMed

    Ullrich, N J; Silvera, V M; Campbell, S E; Gordon, L B

    2012-09-01

    HGPS is a rare syndrome of segmental premature aging. Our goal was to expand the scope of structural bone and soft-tissue craniofacial abnormalities in HGPS through CT or MR imaging. Using The Progeria Research Foundation Medical and Research Database, 98 imaging studies on 25 patients, birth to 14.1 years of age, were comprehensively reviewed. Eight newly identified abnormalities involving the calvaria, skull base, and soft tissues of the face and orbits were present with prevalences between 43% and 100%. These included J-shaped sellas, a mottled appearance and increased vascular markings of the calvaria, abnormally configured mandibular condyles, hypoplastic articular eminences, small zygomatic arches, prominent parotid glands, and optic nerve kinking. This expanded craniofacial characterization helps link disease features and improves our ability to evaluate how underlying genetic and cellular abnormalities culminate in a disease phenotype.

  3. Reliability of Craniofacial Superimposition Using Three-Dimension Skull Model.

    PubMed

    Gaudio, Daniel; Olivieri, Lara; De Angelis, Danilo; Poppa, Pasquale; Galassi, Andrea; Cattaneo, Cristina

    2016-01-01

    Craniofacial superimposition is a technique potentially useful for the identification of unidentified human remains if a photo of the missing person is available. We have tested the reliability of the 2D-3D computer-aided nonautomatic superimposition techniques. Three-dimension laser scans of five skulls and ten photographs were overlaid with an imaging software. The resulting superimpositions were evaluated using three methods: craniofacial landmarks, morphological features, and a combination of the two. A 3D model of each skull without its mandible was tested for superimposition; we also evaluated whether separating skulls by sex would increase correct identifications. Results show that the landmark method employing the entire skull is the more reliable one (5/5 correct identifications, 40% false positives [FP]), regardless of sex. However, the persistence of a high percentage of FP in all the methods evaluated indicates that these methods are unreliable for positive identification although the landmark-only method could be useful for exclusion.

  4. The Oral and Craniofacial Relevance of Chemically Modified RNA Therapeutics

    PubMed Central

    Kormann, Michael S.D.; Khorsand, Behnoush

    2016-01-01

    Several tissue engineering strategies in the form of protein therapy, gene therapy, cell therapy and its combinations are currently being explored for oral and cranio-facial regeneration and repair. Though each of these approaches has advantages, they all have common inherent drawbacks of being expensive and raising safety concerns. Using RNA (encoding therapeutic protein) has several advantages that have the potential to overcome these limitations. Chemically modifying the RNA improves its stability and mitigates immunogenicity allowing for the potential of RNA to become an alternative to protein and gene based therapies. This brief review article focuses on the potential of RNA therapeutics in the treatment of disorders in the oral and craniofacial regions. PMID:26896600

  5. Sagittal back contour and craniofacial morphology in preadolescents.

    PubMed

    Lippold, Carsten; Segatto, Emil; Végh, András; Drerup, Burkhard; Moiseenko, Tatjana; Danesh, Gholamreza

    2010-03-01

    The aim of this study was to analyze the correlation ratios between the sagittal back contour (flèche cervicale and lombaire, trunk inclination) and selected parameters of craniofacial morphology in children. The patient sample consisted of 66 healthy children with a mean age of 11.2 years (SD 1.6 years), of which 34 were male (mean age 11.5 years, SD 1.3 years) and 32 were females (mean age 10.9 years, SD 1.9 years). The children were recruited during the preparation of the initial orthodontic treatment records. Craniofacial morphology was analyzed by six angular measurements: facial axis, mandibular plane angle, inner gonial angle, lower facial height, facial depth and maxilla position. Rasterstereography was used for reconstruction of the spinal back sagittal profile. From the profile flèche cervicale, flèche lombaire and trunk inclination were determined and the correlations with the craniofacial morphology were calculated (Pearson and Mann-Whitney U test). Significant correlations were found with respect to the inner gonial angle and the flèche cervicale, the mandibular plane angle and the flèche lombaire, the inner gonial angle and the flèche lombaire, and the angular lower facial height and the flèche lombaire, as well as the inner gonial angle and the trunk inclination. The craniofacial vertical growth pattern, presented by mandibular plane angle, inner gonial angle and the angular lower facial height, and the correlation to flèche cervicale and lombaire as well as trunk inclination reveal correlations between growth pattern and sagittal back contour.

  6. Sagittal back contour and craniofacial morphology in preadolescents

    PubMed Central

    Lippold, Carsten; Végh, András; Drerup, Burkhard; Moiseenko, Tatjana; Danesh, Gholamreza

    2009-01-01

    The aim of this study was to analyze the correlation ratios between the sagittal back contour (flèche cervicale and lombaire, trunk inclination) and selected parameters of craniofacial morphology in children. The patient sample consisted of 66 healthy children with a mean age of 11.2 years (SD 1.6 years), of which 34 were male (mean age 11.5 years, SD 1.3 years) and 32 were females (mean age 10.9 years, SD 1.9 years). The children were recruited during the preparation of the initial orthodontic treatment records. Craniofacial morphology was analyzed by six angular measurements: facial axis, mandibular plane angle, inner gonial angle, lower facial height, facial depth and maxilla position. Rasterstereography was used for reconstruction of the spinal back sagittal profile. From the profile flèche cervicale, flèche lombaire and trunk inclination were determined and the correlations with the craniofacial morphology were calculated (Pearson and Mann–Whitney U test). Significant correlations were found with respect to the inner gonial angle and the flèche cervicale, the mandibular plane angle and the flèche lombaire, the inner gonial angle and the flèche lombaire, and the angular lower facial height and the flèche lombaire, as well as the inner gonial angle and the trunk inclination. The craniofacial vertical growth pattern, presented by mandibular plane angle, inner gonial angle and the angular lower facial height, and the correlation to flèche cervicale and lombaire as well as trunk inclination reveal correlations between growth pattern and sagittal back contour. PMID:19946733

  7. The society for craniofacial genetics and developmental biology 38th annual meeting.

    PubMed

    Taneyhill, Lisa A; Hoover-Fong, Julie; Lozanoff, Scott; Marcucio, Ralph; Richtsmeier, Joan T; Trainor, Paul A

    2016-07-01

    The mission of the Society for Craniofacial Genetics and Developmental Biology (SCGDB) is to promote education, research, and communication about normal and abnormal development of the tissues and organs of the head. The SCGDB welcomes as members undergraduate students, graduate students, post doctoral researchers, clinicians, orthodontists, scientists, and academicians who share an interest in craniofacial biology. Each year our members come together to share their novel findings, build upon, and challenge current knowledge of craniofacial biology. © 2016 Wiley Periodicals, Inc.

  8. Endoscopic delivery of calcium phosphate cement for secondary craniofacial reconstruction.

    PubMed

    Francis, Cameron S; Wong, Ryan K; Cohen, Steven R

    2012-11-01

    Contour defects are common following primary craniofacial procedures including cranial vault remodeling, fronto-orbital and midface advancements, and complex posttraumatic reconstructions. When onlayed as fast-setting pastes, calcium phosphate cements (CPCs) have been used to effectively correct contour defects in open secondary reconstruction procedures. Here, we describe an endoscopic procedure using an injectable CPC and compare surgical outcomes with the open technique. A retrospective review was conducted for 36 consecutive patients aged 3.0-28.9 years (mean, 10.1 years) who underwent secondary craniofacial reconstruction over a 3-year period. Patients were stratified into endoscopic or open groups depending on the surgical approach utilized. Mean operative time was significantly shorter (P < 0.001) for the endoscopic group (64 minutes) than for the open group (131 minutes). Similarly, hospital stay was significantly shorter (P = 0.005) in the endoscopic group than in the open group. There was also a significant difference with respect to cost (P < 0.001), with the endoscopic approach resulting in a per-patient cost savings of $2208.05. In conclusion, endoscopic delivery of CPC appears to be a safe, efficacious, and cost-effective method of performing secondary craniofacial reconstruction, with the additional benefits of decreased operative time and shorter postoperative hospital stay when compared with an open procedure.

  9. Craniofacial sexual dimorphism patterns and allometry among extant hominids.

    PubMed

    Schaefer, Katrin; Mitteroecker, Philipp; Gunz, Philipp; Bernhard, Markus; Bookstein, Fred L

    2004-12-01

    Craniofacial sexual dimorphism in primates varies in both magnitude and pattern among species. In the past two decades, there has been an increasing emphasis in exploring the correlations of these patterns with taxonomy and the variation in patterns within and among the craniofacial regions. Scrutinising these relationships for hominids, we decompose the craniofacial morphology in five taxa: Homo sapiens, Pan paniscus, Pan troglodytes, Gorilla gorilla and Pongo pygmaeus. 3D coordinates of 35 traditional landmarks and 61 semilandmarks, covering five ridge curves, are measured for each of 268 adult and sub-adult specimens and analysed using geometric morphometric methods. A multivariate analysis in size-shape space shows that ontogenetic scaling contributes to the development of sexual dimorphism in all five taxa, but to a varying extent. In absolute as well as in relative terms P. pygmaeus shows the greatest allometric component, followed by G. gorilla. Homo is intermediate, while in Pan the non-allometric constituent part contributes a large fraction to the actual sexual dimorphism, most markedly in the pygmy chimpanzee. An eigendecomposition of the five vectors of sexual dimorphism reveals two dimensions independent of allometry. One separates orang-utan sexual dimorphism from the African apes and Homo, and the other differentiates between the great apes and Homo with Pan mediating. We discuss these patterns and speculate on their use as characters for taxonomic analysis in the fossil record.

  10. Study on the performance of different craniofacial superimposition approaches (I).

    PubMed

    Ibáñez, O; Vicente, R; Navega, D S; Wilkinson, C; Jayaprakash, P T; Huete, M I; Briers, T; Hardiman, R; Navarro, F; Ruiz, E; Cavalli, F; Imaizumi, K; Jankauskas, R; Veselovskaya, E; Abramov, A; Lestón, P; Molinero, F; Cardoso, J; Çağdır, A S; Humpire, D; Nakanishi, Y; Zeuner, A; Ross, A H; Gaudio, D; Damas, S

    2015-12-01

    As part of the scientific tasks coordinated throughout The 'New Methodologies and Protocols of Forensic Identification by Craniofacial Superimposition (MEPROCS)' project, the current study aims to analyse the performance of a diverse set of CFS methodologies and the corresponding technical approaches when dealing with a common dataset of real-world cases. Thus, a multiple-lab study on craniofacial superimposition has been carried out for the first time. In particular, 26 participants from 17 different institutions in 13 countries were asked to deal with 14 identification scenarios, some of them involving the comparison of multiple candidates and unknown skulls. In total, 60 craniofacial superimposition problems divided in two set of females and males. Each participant follow her/his own methodology and employed her/his particular technological means. For each single case they were asked to report the final identification decision (either positive or negative) along with the rationale supporting the decision and at least one image illustrating the overlay/superimposition outcome. This study is expected to provide important insights to better understand the most convenient characteristics of every method included in this study.

  11. A review of craniofacial disorders caused by spliceosomal defects.

    PubMed

    Lehalle, D; Wieczorek, D; Zechi-Ceide, R M; Passos-Bueno, M R; Lyonnet, S; Amiel, J; Gordon, C T

    2015-11-01

    The spliceosome is a large ribonucleoprotein complex that removes introns from pre-mRNA transcripts. Mutations in EFTUD2, encoding a component of the major spliceosome, have recently been identified as the cause of mandibulofacial dysostosis, Guion-Almeida type (MFDGA), characterized by mandibulofacial dysostosis, microcephaly, external ear malformations and intellectual disability. Mutations in several other genes involved in spliceosomal function or linked aspects of mRNA processing have also recently been identified in human disorders with specific craniofacial malformations: SF3B4 in Nager syndrome, an acrofacial dysostosis (AFD); SNRPB in cerebrocostomandibular syndrome, characterized by Robin sequence and rib defects; EIF4A3 in the AFD Richieri-Costa-Pereira syndrome, characterized by Robin sequence, median mandibular cleft and limb defects; and TXNL4A in Burn-McKeown syndrome, involving specific craniofacial dysmorphisms. Here, we review phenotypic and molecular aspects of these syndromes. Given the apparent sensitivity of craniofacial development to defects in mRNA processing, it is possible that mutations in other proteins involved in spliceosomal function will emerge in the future as causative for related human disorders.

  12. Web-based cephalometric procedure for craniofacial and dentition analyses

    NASA Astrophysics Data System (ADS)

    Arun Kumar, N. S.; Kamath, Srijit R.; Ram, S.; Muthukumaran, B.; Venkatachalapathy, A.; Nandakumar, A.; Jayakumar, P.

    2000-05-01

    Craniofacial analysis is a very important and widely used procedure in orthodontic caphalometry, which plays a key role in diagnosis and treatment planning. This involves establishing reference standards and specification of landmarks and variables. The manual approach takes up a tremendous amount of the orthodontist's time. In this paper, we developed a web-based approach for the craniofacial and dentition analyses. A digital computed radiography (CR) system is utilized for obtaining the craniofacial image, which is stored as a bitmap file. The system comprises of two components - a server and a client. The server component is a program that runs on a remote machine. To use the system, the user has to connect to the website. The client component is now activated, which uploads the image from the PC and displays it on the canvas area. The landmarks are identified using a mouse interface. The reference lines are generated. The resulting image is then sent to the server which performs all measurement and calculates the mean, standard deviation, etc. of the variables. The results generated are sent immediately to the client where it is displayed on a separate frame along with the standard values for comparison. This system eliminates the need for every user to load other expensive programs on his machine.

  13. Do constructional constraints influence cichlid craniofacial diversification?

    PubMed Central

    Hulsey, C.D; Mims, M.C; Streelman, J.T

    2007-01-01

    Constraints on form should determine how organisms diversify. Owing to competition for the limited space within the body, investment in adjacent structures may frequently represent an evolutionary compromise. For example, evolutionary trade-offs between eye size and jaw muscles in cichlid fish of the African great lakes are thought to represent a constructional constraint that influenced the diversification of these assemblages. To test the evolutionary independence of these structures in Lake Malawi cichlid fish, we measured the mass of the three major adductor mandibulae (AM) muscles and determined the eye volume in 41 species. Using both traditional and novel methodologies to control for resolved and unresolved phylogenetic relationships, we tested the evolutionary independence of these four structures. We found that evolutionary change in the AM muscles was positively correlated, suggesting that competition for space in the head has not influenced diversification among these jaw muscles. Furthermore, there was no negative relationship between change in total AM muscle mass and eye volume, indicating that there has been little effect of the evolution of eye size on AM evolution in Lake Malawi cichlids. The comparative approach used here should provide a robust method to test whether constructional constraints frequently limit phenotypic change in adaptive radiations. PMID:17519189

  14. Emerging peripheral receptor targets for deep-tissue craniofacial pain therapies.

    PubMed

    Ambalavanar, R; Dessem, D

    2009-03-01

    While effective therapies are available for some types of craniofacial pain, treatments for deep-tissue craniofacial pain such as temporomandibular disorders are less efficacious. Several ion channels and receptors which are prominent in craniofacial nociceptive mechanisms have been identified on trigeminal primary afferent neurons. Many of these receptors and channels exhibit unusual distributions compared with extracranial regions. For example, expression of the ATP receptor P2X(3) is strongly implicated in nociception and is more abundant on trigeminal primary afferent neurons than analogous extracranial neurons, making them potentially productive targets specifically for craniofacial pain therapies. The initial part of this review therefore focuses on P2X(3) as a potential therapeutic target to treat deep-tissue craniofacial pain. In the trigeminal ganglion, P2X(3) receptors are often co-expressed with the nociceptive neuropeptides CGRP and SP. Therefore, we discuss the role of CGRP and SP in deep-tissue craniofacial pain and suggest that neuropeptide antagonists, which have shown promise for the treatment of migraine, may have wider therapeutic potential, including the treatment of deep-tissue craniofacial pain. P2X(3), TRPV1, and ASIC3 are often co-expressed in trigeminal neurons, implying the formation of functional complexes that allow craniofacial nociceptive neurons to respond synergistically to altered ATP and pH in pain. Future therapeutics for craniofacial pain thus might be more efficacious if targeted at combinations of P2X(3), CGRP, TRPV1, and ASIC3.

  15. Emerging Peripheral Receptor Targets for Deep-tissue Craniofacial Pain Therapies

    PubMed Central

    Ambalavanar, R.; Dessem, D.

    2009-01-01

    While effective therapies are available for some types of craniofacial pain, treatments for deep-tissue craniofacial pain such as temporomandibular disorders are less efficacious. Several ion channels and receptors which are prominent in craniofacial nociceptive mechanisms have been identified on trigeminal primary afferent neurons. Many of these receptors and channels exhibit unusual distributions compared with extracranial regions. For example, expression of the ATP receptor P2X3 is strongly implicated in nociception and is more abundant on trigeminal primary afferent neurons than analogous extracranial neurons, making them potentially productive targets specifically for craniofacial pain therapies. The initial part of this review therefore focuses on P2X3 as a potential therapeutic target to treat deep-tissue craniofacial pain. In the trigeminal ganglion, P2X3 receptors are often co-expressed with the nociceptive neuropeptides CGRP and SP. Therefore, we discuss the role of CGRP and SP in deep-tissue craniofacial pain and suggest that neuropeptide antagonists, which have shown promise for the treatment of migraine, may have wider therapeutic potential, including the treatment of deep-tissue craniofacial pain. P2X3, TRPV1, and ASIC3 are often co-expressed in trigeminal neurons, implying the formation of functional complexes that allow craniofacial nociceptive neurons to respond synergistically to altered ATP and pH in pain. Future therapeutics for craniofacial pain thus might be more efficacious if targeted at combinations of P2X3, CGRP, TRPV1, and ASIC3. PMID:19329451

  16. 78 FR 39740 - National Institute of Dental & Craniofacial Research; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-07-02

    ... applications. Place: National Institutes of Health, One Democracy Plaza, 6701 Democracy Boulevard, Bethesda, MD..., Scientific Review Branch, National Institute of Dental and Craniofacial Research, 6701 Democracy Blvd.,...

  17. Comparison of inverse-dynamics musculo-skeletal models of AL 288-1 Australopithecus afarensis and KNM-WT 15000 Homo ergaster to modern humans, with implications for the evolution of bipedalism.

    PubMed

    Wang, Weijie; Crompton, Robin H; Carey, Tanya S; Günther, Michael M; Li, Yu; Savage, Russell; Sellers, Williams I

    2004-12-01

    Size and proportions of the postcranial skeleton differ markedly between Australopithecus afarensis and Homo ergaster, and between the latter and modern Homo sapiens. This study uses computer simulations of gait in models derived from the best-known skeletons of these species (AL 288-1, Australopithecus afarensis, 3.18 million year ago) and KNM-WT 15000 (Homo ergaster, 1.5-1.8 million year ago) compared to models of adult human males and females, to estimate the required muscle power during bipedal walking, and to compare this with those in modern humans. Skeletal measurements were carried out on a cast of KNM-WT 15000, but for AL 288-1 were taken from the literature. Muscle attachments were applied to the models based on their position relative to the bone in modern humans. Joint motions and moments from experiments on human walking were input into the models to calculate muscle stress and power. The models were tested in erect walking and 'bent-hip bent-knee' gait. Calculated muscle forces were verified against EMG activity phases from experimental data, with reference to reasonable activation/force delays. Calculated muscle powers are reasonably comparable to experimentally derived metabolic values from the literature, given likely values for muscle efficiency. The results show that: 1) if evaluated by the power expenditure per unit of mass (W/kg) in walking, AL 288-1 and KNM-WT 15000 would need similar power to modern humans; however, 2) with distance-specific parameters as the criteria, AL 288-1 would require to expend relatively more muscle power (W/kg.m(-1)) in comparison to modern humans. The results imply that in the evolution of bipedalism, body proportions, for example those of KNM-WT 15000, may have evolved to obtain an effective application of muscle power to bipedal walking over a long distance, or at high speed.

  18. barx1 represses joints and promotes cartilage in the craniofacial skeleton.

    PubMed

    Nichols, James T; Pan, Luyuan; Moens, Cecilia B; Kimmel, Charles B

    2013-07-01

    The evolution of joints, which afford skeletal mobility, was instrumental in vertebrate success. Here, we explore the molecular genetics and cell biology that govern jaw joint development. Genetic manipulation experiments in zebrafish demonstrate that functional loss, or gain, of the homeobox-containing gene barx1 produces gain, or loss, of joints, respectively. Ectopic joints in barx1 mutant animals are present in every pharyngeal segment, and are associated with disrupted attachment of bone, muscles and teeth. We find that ectopic joints develop at the expense of cartilage. Time-lapse experiments suggest that barx1 controls the skeletal precursor cell choice between differentiating into cartilage versus joint cells. We discovered that barx1 functions in this choice, in part, by regulating the transcription factor hand2. We further show that hand2 feeds back to negatively regulate barx1 expression. We consider the possibility that changes in barx1 function in early vertebrates were among the key innovations fostering the evolution of skeletal joints.

  19. 75 FR 28031 - National Institute of Dental & Craniofacial Research; Notice of Closed Meetings

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  20. 75 FR 26762 - National Institute of Dental & Craniofacial Research; Notice of Closed Meetings

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  1. 75 FR 7486 - National Institute of Dental & Craniofacial Research; Notice of Closed Meetings

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  12. 77 FR 74674 - National Institute of Dental & Craniofacial Research; Notice of Meeting

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  13. Craniofacial biomechanics and functional and dietary inferences in hominin paleontology.

    PubMed

    Grine, Frederick E; Judex, Stefan; Daegling, David J; Ozcivici, Engin; Ungar, Peter S; Teaford, Mark F; Sponheimer, Matt; Scott, Jessica; Scott, Robert S; Walker, Alan

    2010-04-01

    Finite element analysis (FEA) is a potentially powerful tool by which the mechanical behaviors of different skeletal and dental designs can be investigated, and, as such, has become increasingly popular for biomechanical modeling and inferring the behavior of extinct organisms. However, the use of FEA to extrapolate from characterization of the mechanical environment to questions of trophic or ecological adaptation in a fossil taxon is both challenging and perilous. Here, we consider the problems and prospects of FEA applications in paleoanthropology, and provide a critical examination of one such study of the trophic adaptations of Australopithecus africanus. This particular FEA is evaluated with regard to 1) the nature of the A. africanus cranial composite, 2) model validation, 3) decisions made with respect to model parameters, 4) adequacy of data presentation, and 5) interpretation of the results. Each suggests that the results reflect methodological decisions as much as any underlying biological significance. Notwithstanding these issues, this model yields predictions that follow from the posited emphasis on premolar use by A. africanus. These predictions are tested with data from the paleontological record, including a phylogenetically-informed consideration of relative premolar size, and postcanine microwear fabrics and antemortem enamel chipping. In each instance, the data fail to conform to predictions from the model. This model thus serves to emphasize the need for caution in the application of FEA in paleoanthropological enquiry. Theoretical models can be instrumental in the construction of testable hypotheses; but ultimately, the studies that serve to test these hypotheses - rather than data from the models - should remain the source of information pertaining to hominin paleobiology and evolution.

  14. SP8 regulates signaling centers during craniofacial development.

    PubMed

    Kasberg, Abigail D; Brunskill, Eric W; Steven Potter, S

    2013-09-15

    Much of the bone, cartilage and smooth muscle of the vertebrate face is derived from neural crest (NC) cells. During craniofacial development, the anterior neural ridge (ANR) and olfactory pit (OP) signaling centers are responsible for driving the outgrowth, survival, and differentiation of NC populated facial prominences, primarily via FGF. While much is known about the functional importance of signaling centers, relatively little is understood of how these signaling centers are made and maintained. In this report we describe a dramatic craniofacial malformation in mice mutant for the zinc finger transcription factor gene Sp8. At E14.5 they show facial prominences that are reduced in size and underdeveloped, giving an almost faceless phenotype. At later times they show severe midline defects, excencephaly, hyperterlorism, cleft palate, and a striking loss of many NC and paraxial mesoderm derived cranial bones. Sp8 expression was primarily restricted to the ANR and OP regions during craniofacial development. Analysis of an extensive series of conditional Sp8 mutants confirmed the critical role of Sp8 in signaling centers, and not directly in the NC and paraxial mesoderm cells. The NC cells of the Sp8 mutants showed increased levels of apoptosis and decreased cell proliferation, thereby explaining the reduced sizes of the facial prominences. Perturbed gene expression in the Sp8 mutants was examined by laser capture microdissection coupled with microarrays, as well as in situ hybridization and immunostaining. The most dramatic differences included striking reductions in Fgf8 and Fgf17 expression in the ANR and OP signaling centers. We were also able to achieve genetic and pharmaceutical partial rescue of the Sp8 mutant phenotype by reducing Sonic Hedgehog (SHH) signaling. These results show that Sp8 primarily functions to promote Fgf expression in the ANR and OP signaling centers that drive the survival, proliferation, and differentiation of the NC and paraxial

  15. Magnesium Alloys as a Biomaterial for Degradable Craniofacial Screws

    PubMed Central

    Henderson, Sarah E.; Verdelis, Konstantinos; Maiti, Spandan; Pal, Siladitya; Chung, William L.; Chou, Da-Tren; Kumta, Prashant N.; Almarza, Alejandro J.

    2014-01-01

    Recently, magnesium (Mg) alloys have received significant attention as a potential biomaterial for degradable implants, and this study was directed at evaluating the suitability of Mg for craniofacial bone screws. The objective was to implant screws fabricated from commercially available Mg-alloys (pure Mg and AZ31) in-vivo in a rabbit mandible. First, Mg-alloy screws were compared to stainless steel screws in an in-vitro pull-out test and determined to have a similar holding strength (~40N). A finite element model of the screw was created using the pull-out test data, and the model can be used for future Mg-alloy screw design. Then, Mg-alloy screws were implanted for 4, 8, and 12 weeks, with two controls of an osteotomy site (hole) with no implant and a stainless steel screw implanted for 12 weeks. MicroCT (computed tomography) was used to assess bone remodeling and Mg-alloy degradation, both visually and qualitatively through volume fraction measurements for all time points. Histologic analysis was also completed for the Mg-alloys at 12 weeks. The results showed that craniofacial bone remodeling occurred around both Mg-alloy screw types. Pure Mg had a different degradation profile than AZ31, however bone growth occurred around both screw types. The degradation rate of both Mg-alloy screw types in the bone marrow space and the muscle were faster than in the cortical bone space at 12 weeks. Furthermore, it was shown that by alloying Mg, the degradation profile could be changed. These results indicate the promise of using Mg-alloys for craniofacial applications. PMID:24384125

  16. Antibacterial coating on biocomposites for cranio-facial reconstruction

    PubMed Central

    LAZAR, MADALINA ANCA; VODNAR, DAN; PRODAN, DOINA; ROTARU, HORATIU; ROMAN, CALIN RARES; SORCOI, LIDIA ADRIANA; BACIUT, GRIGORE; CAMPIAN, RADU SEPTIMIU

    2016-01-01

    Background and aims Despite the fact that implants are sterilized, antiseptic techniques are applied and systemic antibiotics are routinely administered prior to and after craniofacial surgery, infection rates between 3% and 40% are still reported for alloplastic implants, urging for implant removal. The present study focuses on the development of a fiber-reinforced composite (FRC) implant for craniofacial reconstruction with antimicrobial properties. Methods A new fiber-reinforced composite coated with gentamicin was developed and tested for bacterial adherence and antibacterial efficiency, using two of the most involved bacterial strains in the postoperative infections: Staphylococcus aureus and Pseudomonas aeruginosa. Results Bacteria were efficiently inactivated in direct contact with gentamicin coatings (p<0.05). The inhibition zone for Staphylococcus aureus ranged from 17.21 mm to 20.13 mm and for Pseudomonas aeruginosa ranged from 12.93 mm to 15.33 mm. Although no significant statistical results were found for bacterial adhesion and gentamicin concentration, (Staphylococcus aureus: β= −0.974; p=0.144>0.05 and Pseudomonas aeruginosa: β = −0.921; p=0.255>0.05), a negative relation was observed, indicating the reversed relation between the antibiotic dosage and the bacterial adherence. Conclusion The results of the two applied microbiological protocols used in the study suggested that gentamicin eluting coating inhibited not only the bacterial growth, but also led to a lower initial bacterial adhesion to the surface of the implant. Thus, antibiotic coating of craniofacial implants may reduce the infection rate related to reconstructive surgery. PMID:27547065

  17. Evolution of Class III treatment in orthodontics.

    PubMed

    Ngan, Peter; Moon, Won

    2015-07-01

    Angle, Tweed, and Moyers classified Class III malocclusions into 3 types: pseudo, dentoalveolar, and skeletal. Clinicians have been trying to identify the best timing to intercept a Class III malocclusion that develops as early as the deciduous dentition. With microimplants as skeletal anchorage, orthopedic growth modification became more effective, and it also increased the scope of camouflage orthodontic treatment for patients who were not eligible for orthognathic surgery. However, orthodontic treatment combined with orthognathic surgery remains the only option for patients with a severe skeletal Class III malocclusion or a craniofacial anomaly. Distraction osteogenesis can now be performed intraorally at an earlier age. The surgery-first approach can minimize the length of time that the malocclusion needs to worsen before orthognathic surgery. Finally, the use of computed tomography scans for 3-dimensional diagnosis and treatment planning together with advances in imaging technology can improve the accuracy of surgical movements and the esthetic outcomes for these patients.

  18. The Future in Craniofacial Surgery: Computer-Assisted Planning

    PubMed Central

    Schendel, Stephen A.; Hazan-Molina, Hagai; Rachmiel, Adi; Aizenbud, Dror

    2012-01-01

    Advancements in computers, prototyping, and imaging, especially over the last 10 years, have permitted the adoption of three-dimensional imaging protocols in the health care field. In this article, the authors present an integrated simulation system for craniofacial surgical planning and treatment. Image fusion technology, which involves combining different imaging modalities, was utilized to create a realistic prototype and virtual image that can be manipulated in real time. The resultant data can then be shared over the Internet with distantly located practitioners. PMID:23908836

  19. [Innovation in craniofacial surgery: From Tessier to future prospects. According to testimonies of F. Ortiz-Monasterio, D. Marchac, F. Firmin and T. Wolfe].

    PubMed

    Arnaud, É

    2010-10-01

    Innovation is one of the founding values of plastic surgery. By its fundamental innovations, Paul Tessier (1917-2008) created craniofacial surgery in the sixties. The exploration of the new field, which has modified the boundaries of knowledge, has been evoked by Fernando Ortiz Monasterio, Daniel Marchac, Françoise Firmin and Tony Wolfe. This work defined the human qualities leading to creative breakthrough: (1) rigourous work and passion; (2) withdrawal from the current educative dogmas; (3) maintainance of the excellence of reconstructive and aesthetic practice; (4) progressive complexity of the procedures with concomitant validation by peers; (5) humility and continuous self criticizing maintained in one's own results. The main focus of those evolutions in craniofacial care at the forefront include among others: (1) functional imaging in order to help for mental prognosis assessment; (2) sophistication of biomaterials in order to limit morbidity; (3) ultimate developments of osteogenic distraction techniques; (4) genetic evaluation and counselling toward genetic therapies; (5) antenatal diagnosis toward in utero treatment. The necessity of well recognized reference centers for treatment of craniofacial anomalies is currently one of the healthcare priorities in Europe among the management of all are rare diseases (less than one out of 2000 living births).

  20. A novel skull registration based on global and local deformations for craniofacial reconstruction.

    PubMed

    Deng, Qingqiong; Zhou, Mingquan; Shui, Wuyang; Wu, Zhongke; Ji, Yuan; Bai, Ruyi

    2011-05-20

    Craniofacial reconstruction is important in forensic identification. It aims to estimate a facial appearance for human skeletal remains using the relationship between the soft tissue and the underlying bone structure. Various computerized methods have been developed in recent decades. An effective way is to deform a reference skull to the discovered skull, and then apply the same deformation to the skin associated with the reference skull to provide an approximate face for the discovered skull. For this method, the better the two skulls match each other, the more face-like the reconstructed skin surface will be. In this paper, we present a novel skull registration method that can match the two skulls closely, so as to improve the accuracy of the reconstruction. It combines both global and local deformations. A generic thin-plate spline (TPS)-based deformation, which is global, is applied first to roughly align the two skulls based on two groups of manually defined landmarks. Afterwards, the two skulls are largely matched, except some regions, on which some new landmarks are automatically marked. A compact support radial basis functions (CSRBF)-based deformation, which is local, will then be performed on these regions to adjust the initial alignment of the two skulls. Such adjustment can be repeatedly implemented until the two skulls have optimal alignment. In addition, all the skulls and face involved in the registration are represented by their single outer surfaces to facilitate the reconstruction procedure. The experiments demonstrate that our method can create a plausible face even when the reference skull is very different from the discovered skull. As a result, we can make full use of our database to provide multiple estimates for a principle components analysis (PCA) for the final reconstruction.

  1. Orthognathic correction of a craniofacial deformity in a patient with a mutilated dentition: a case report.

    PubMed

    Stamboulieh, Jason N; Neagle, Jack M; Throndson, Roger

    2010-06-01

    Orthognathic surgery is routinely performed for patients with dentofacial deformity and has been conducted for more than 100 years (1). Orthognathic Surgery is a functional and esthetic surgery that affects patients self perception. Patients have noted an improvement in their facial appearance after orthognathic surgery that was associated with improvement in psychosocial adjustments (2). When the decision to move both the maxilla and the mandible is made, there are numerous variables to be considered. Among these variables are the stability of double jaw surgery, improving the masticatory function of the patient and lastly, the esthetic result. Past studies have also looked at patient concerns including temporomandibular joint symptoms, speech difficulties and problems with mastication. In one study by Rivera and colleagues who studied 143 patients pre-operatively found 71 pecent with esthetic concerns (3), 47 percent had functional concerns and 28 percent had temporomandibular joint concerns. Traditional treatment planning for two-jaw surgery uses the condyle as the point of rotation with the mandibular occlusal plane being used as a template for setting the maxillary teeth (4). This approach, which allows clockwise and counterclockwise rotation of the mandible gives stable skeletal results. Recent studies appear to indicate that long term stability is achieved mainly when rigid fixation is employed. Orthognathic surgery is only one part of the process to correct a dentofacial deformity. The process starts with the initial diagnosis, followed by a treatment plan and then patient consent. Treatment generally begins with a dental assessment to correct decay, followed by orthodontic decompensation in preparation for surgical intervention. Orthognathic surgery is followed by postoperative orthodontia to maximize the occlusal relationship. This process underscores the skill and detailed communication between orthodontist and oral surgeon, and emphasizes the crucial

  2. Age- and gender-related incisor changes in different vertical craniofacial relationships

    PubMed Central

    Linjawi, Amal I

    2016-01-01

    Objective: To investigate the age- and gender-related changes in upper and lower incisors' position and inclination in different vertical craniofacial relationships. Materials and Methods: A retrospective study on patients' records of age 8–48 years. The sample was divided based on Frankfort mandibular plane angle into three groups; normal, high, and low angle groups. It was then subdivided according to age. Upper and lower incisors' inclinations and positions were assessed from lateral cephalometric radiographs. Gender and age associations and effects size were calculated using two-way ANOVA tests. Significance level was set at P < 0.05. Results: Four hundred and twenty records (F = 272, M = 148) were included; 115 had normal, 81 low, and 250 had high vertical relationships with no significant age and gender distribution differences (P > 0.05). All significant associations and effects were found in the low angle group only. A significant association was found between gender and upper incisor inclination (P < 0.05) with medium effect size (0.13 ≤ ηp2 < 0.26). An association is also found between age × gender interaction and upper incisor inclination and lower incisor position (P < 0.05) with large effect size (0.26 ≤ ηp2). Conclusion: Age- and gender-related upper and lower incisor changes were found to be significant in subjects with decreased vertical skeletal pattern only. The upper incisor inclination and the lower incisor position were the most affected variables with age and gender. PMID:27843888

  3. Skeletal abnormalities in homocystinuria.

    PubMed Central

    Brenton, D. P.

    1977-01-01

    The skeletal changes of thirty-four patients with the biochemical and clinical features of cystathionine synthase deficiency are described. It is emphasized that there is clinical evidence of excessive bone growth and the formation for bone which is structurally weaker than normal. The similarities and differences between this condition and Marfan's syndrome are stressed and the possible nature of the connective tissue defect leading to the skeletal changes discussed. The most characteristic skeletal changes in homocystinuria are the skeletal disproportion (pubis-heel length greater than crown-pubis length), the abnormal vertebrae, sternal deformities, genu valgum and large metaphyses and epiphyses. Images Fig. 2 Fig. 3 Fig. 4 Fig. 8 Fig. 9 Fig. 10 PMID:917963

  4. Rare Bone Diseases and Their Dental, Oral, and Craniofacial Manifestations

    PubMed Central

    Foster, B.L.; Ramnitz, M.S.; Gafni, R.I.; Burke, A.B.; Boyce, A.M.; Lee, J.S.; Wright, J.T.; Akintoye, S.O.; Somerman, M.J.; Collins, M.T.

    2014-01-01

    Hereditary diseases affecting the skeleton are heterogeneous in etiology and severity. Though many of these conditions are individually rare, the total number of people affected is great. These disorders often include dental-oral-craniofacial (DOC) manifestations, but the combination of the rarity and lack of in-depth reporting often limit our understanding and ability to diagnose and treat affected individuals. In this review, we focus on dental, oral, and craniofacial manifestations of rare bone diseases. Discussed are defects in 4 key physiologic processes in bone/tooth formation that serve as models for the understanding of other diseases in the skeleton and DOC complex: progenitor cell differentiation (fibrous dysplasia), extracellular matrix production (osteogenesis imperfecta), mineralization (familial tumoral calcinosis/hyperostosis hyperphosphatemia syndrome, hypophosphatemic rickets, and hypophosphatasia), and bone resorption (Gorham-Stout disease). For each condition, we highlight causative mutations (when known), etiopathology in the skeleton and DOC complex, and treatments. By understanding how these 4 foci are subverted to cause disease, we aim to improve the identification of genetic, molecular, and/or biologic causes, diagnoses, and treatment of these and other rare bone conditions that may share underlying mechanisms of disease. PMID:24700690

  5. Thermal shell fragment craniofacial injury: biophysics, pathophysiology, and management.

    PubMed

    Shuker, Sabri T

    2015-01-01

    This article aims to bring attention to unique risks and burns by thermal shell fragment craniofacial soft tissue injury. Hot shrapnel may inflict burns to major vessel walls and lead to life-threatening hemorrhaging or death, which adds a new challenge for craniofacial surgeons. Morbidity of thermal deep tissue may lead to deep tissue necrosis and infection.Thermal energy (TE) physics, biophysics, and pathophysiological effects relate directly to the amount of heat generated from shell casing detonation, which transfers to skin, deep tissue, as well as brain and leads to life-threatening burning of organs; this is different from shrapnel kinetic energy injury.The unprecedented increase in using a large range of explosives and high-heat thermobaric weapons contributes to the superfluous and unnecessary suffering caused by thermal injury wounds.Surgeons and medics should recognize that a surprising amount of TE can be found in an explosion or detonation of a steel-encased explosive, resulting in TEs ranging from 400 F up to 1000 F.

  6. Craniofacial and dental phenotype of Smith-Magenis syndrome.

    PubMed

    Tomona, Natalia; Smith, Ann C M; Guadagnini, Jean Pierre; Hart, Thomas C

    2006-12-01

    The aim of this study was to assess and characterize dental and craniofacial findings in individuals with a confirmed diagnosis of Smith-Magenis syndrome (SMS). Extraoral and intraoral examination including dental and craniofacial radiographs and three-dimensional facial photoimaging were performed for 15 cases between ages 4 and 19 years old. Tooth agenesis (13/15 cases) affecting primarily the mandibular second premolars and taurodontism (13/15 cases) were common findings. Dilaceration of the tooth roots was present in one-third of the cases. At least one dental anomaly was present in each case. These findings occur with greater frequency than in the general population (P < 0.001). An age-related increase in decayed and restored teeth was found. Poorer oral hygiene, increased dental plaque, and increased gingival inflammation progressed from childhood to teenage years. Radiographic findings suggest the prognathic appearance is not caused by excessive mandibular growth. Other findings including protrusion of the mandibular anterior teeth, increased bony chin size, and macroglossia were noted, which may contribute to the prognathic appearance. The high prevalence of dental anomalies (>90%) further expands the phenotype and indicates that dental evaluation may aid in the diagnosis of SMS.

  7. Craniofacial morphologic parameters in a Persian population: an anthropometric study.

    PubMed

    Amini, Fariborz; Mashayekhi, Ziba; Rahimi, Hajir; Morad, Golnaz

    2014-09-01

    Limited data are available regarding the reference ranges of facial proportions of the Persian population in Iran. This study aimed to establish the reference range of craniofacial anthropometric measurements in an adult Iranian population. On 100 individuals (men = women), aged 18 to 30 years with normal faces and occlusions, 34 linear and 7 angular measurements as well as 24 indices were calculated. The difference of measurements between men and women were evaluated by paired t-test. The data were compared with the norms of North American whites using 1-sample t-test. The subjects belonged to 5 ethnic groups (57% from Fars, 14% from Kord, 11% from Azari, 10% from Gilaki-Mazani, and 2% from Lor). All head measurements were greater in men except for the head index and the head height. The subjects had leptoprosopic faces. The intercanthal width was almost one third of the biocular width and greater than the eye fissure length. Although the nose width of women was significantly smaller, both sexes had leptorrhine noses. The chin height and lower chin height were greater in men. In comparison with North American whites, considerable differences were found regarding head height and width, biocular width, nose height, face height, mouth width, and upper chin height. In conclusion, the reference range of craniofacial anthropometric measurements established for the Iranian population might be efficiently used for esthetic treatments.

  8. Rare bone diseases and their dental, oral, and craniofacial manifestations.

    PubMed

    Foster, B L; Ramnitz, M S; Gafni, R I; Burke, A B; Boyce, A M; Lee, J S; Wright, J T; Akintoye, S O; Somerman, M J; Collins, M T

    2014-07-01

    Hereditary diseases affecting the skeleton are heterogeneous in etiology and severity. Though many of these conditions are individually rare, the total number of people affected is great. These disorders often include dental-oral-craniofacial (DOC) manifestations, but the combination of the rarity and lack of in-depth reporting often limit our understanding and ability to diagnose and treat affected individuals. In this review, we focus on dental, oral, and craniofacial manifestations of rare bone diseases. Discussed are defects in 4 key physiologic processes in bone/tooth formation that serve as models for the understanding of other diseases in the skeleton and DOC complex: progenitor cell differentiation (fibrous dysplasia), extracellular matrix production (osteogenesis imperfecta), mineralization (familial tumoral calcinosis/hyperostosis hyperphosphatemia syndrome, hypophosphatemic rickets, and hypophosphatasia), and bone resorption (Gorham-Stout disease). For each condition, we highlight causative mutations (when known), etiopathology in the skeleton and DOC complex, and treatments. By understanding how these 4 foci are subverted to cause disease, we aim to improve the identification of genetic, molecular, and/or biologic causes, diagnoses, and treatment of these and other rare bone conditions that may share underlying mechanisms of disease.

  9. Craniofacial development in marsupial mammals: developmental origins of evolutionary change.

    PubMed

    Smith, Kathleen K

    2006-05-01

    Biologists have long studied the evolutionary consequences of the differences in reproductive and life history strategies of marsupial and eutherian mammals. Over the past few decades, the impact of these strategies on the development of the marsupial embryo and neonate has received attention. In this review, the differences in development in the craniofacial region in marsupial and eutherian mammals will be discussed. The review will highlight differences at the organogenic and cellular levels, and discuss hypotheses for shifts in the expression of important regulatory genes. The major difference in the organogenic period is a whole-scale shift in the relative timing of central nervous system structures, in particular those of the forebrain, which are delayed in marsupials, relative to the structures of the oral-facial apparatus. Correlated with the delay in development of nervous system structures, the ossification of the bones of the neurocranium are delayed, while those of the face are accelerated. This study will also review work showing that the neural crest, which provides much of the cellular material to the facial skeleton and may also carry important patterning information, is notably accelerated in its development in marsupials. Potential consequences of these observations for hypotheses on constraint, evolutionary integration, and the existence of developmental modules is discussed. Finally, the implications of these results for hypotheses on the genetic modulation of craniofacial patterning are presented.

  10. A gene expression atlas of early craniofacial development.

    PubMed

    Brunskill, Eric W; Potter, Andrew S; Distasio, Andrew; Dexheimer, Phillip; Plassard, Andrew; Aronow, Bruce J; Potter, S Steven

    2014-07-15

    We present a gene expression atlas of early mouse craniofacial development. Laser capture microdissection (LCM) was used to isolate cells from the principal critical microregions, whose development, differentiation and signaling interactions are responsible for the construction of the mammalian face. At E8.5, as migrating neural crest cells begin to exit the neural fold/epidermal ectoderm boundary, we examined the cranial mesenchyme, composed of mixed neural crest and paraxial mesoderm cells, as well as cells from adjacent neuroepithelium. At E9.5 cells from the cranial mesenchyme, overlying olfactory placode/epidermal ectoderm, and underlying neuroepithelium, as well as the emerging mandibular and maxillary arches were sampled. At E10.5, as the facial prominences form, cells from the medial and lateral prominences, the olfactory pit, multiple discrete regions of underlying neuroepithelium, the mandibular and maxillary arches, including both their mesenchymal and ectodermal components, as well as Rathke's pouch, were similarly sampled and profiled using both microarray and RNA-seq technologies. Further, we performed single cell studies to better define the gene expression states of the early E8.5 pioneer neural crest cells and paraxial mesoderm. Taken together, and analyzable by a variety of biological network approaches, these data provide a complementing and cross validating resource capable of fueling discovery of novel compartment specific markers and signatures whose combinatorial interactions of transcription factors and growth factors/receptors are responsible for providing the master genetic blueprint for craniofacial development.

  11. Wnt Signaling and Its Contribution to Craniofacial Tissue Homeostasis.

    PubMed

    Yin, X; Li, J; Salmon, B; Huang, L; Lim, W H; Liu, B; Hunter, D J; Ransom, R C; Singh, G; Gillette, M; Zou, S; Helms, J A

    2015-11-01

    A new field of dental medicine seeks to exploit nature's solution for repairing damaged tissues, through the process of regeneration. Most adult mammalian tissues have limited regenerative capacities, but in lower vertebrates, the molecular machinery for regeneration is an elemental part of their genetic makeup. Accumulating data suggest that the molecular pathways responsible for the regenerative capacity of teleosts, amphibians, and reptiles have fallen into disuse in mammals but that they can be "jumpstarted" by the selective activation of key molecules. The Wnt family of secreted proteins constitutes one such critical pathway: Wnt proteins rank among the most potent and ubiquitous stem cell self-renewing factors, with tremendous potential for promoting human tissue regeneration. Wnt reporter and lineage-tracing strains of mice have been employed to create molecular maps of Wnt responsiveness in the craniofacial tissues, and these patterns of Wnt signaling colocalize with stem/progenitor populations in the rodent incisor apex, the dental pulp, the alveolar bone, the periodontal ligament, the cementum, and oral mucosa. The importance of Wnt signaling in both the maintenance and healing of these craniofacial tissues is summarized, and the therapeutic potential of Wnt-based strategies to accelerate healing through activation of endogenous stem cells is highlighted.

  12. Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial Development

    PubMed Central

    Ferre-Fernández, Jesús-José; Aroca-Aguilar, José-Daniel; Medina-Trillo, Cristina; Bonet-Fernández, Juan-Manuel; Méndez-Hernández, Carmen-Dora; Morales-Fernández, Laura; Corton, Marta; Cabañero-Valera, María-José; Gut, Marta; Tonda, Raul; Ayuso, Carmen; Coca-Prados, Miguel; García-Feijoo, Julián; Escribano, Julio

    2017-01-01

    Congenital glaucoma (CG) is a heterogeneous, inherited and severe optical neuropathy that originates from maldevelopment of the anterior segment of the eye. To identify new disease genes, we performed whole-exome sequencing of 26 unrelated CG patients. In one patient we identified two rare, recessive and hypermorphic coding variants in GPATCH3, a gene of unidentified function, and 5% of a second group of 170 unrelated CG patients carried rare variants in this gene. The recombinant GPATCH3 protein activated in vitro the proximal promoter of CXCR4, a gene involved in embryo neural crest cell migration. The GPATCH3 protein was detected in human tissues relevant to glaucoma (e.g., ciliary body). This gene was expressed in the dermis, skeletal muscles, periocular mesenchymal-like cells and corneal endothelium of early zebrafish embryos. Morpholino-mediated knockdown and transient overexpression of gpatch3 led to varying degrees of goniodysgenesis and ocular and craniofacial abnormalities, recapitulating some of the features of zebrafish embryos deficient in the glaucoma-related genes pitx2 and foxc1. In conclusion, our data suggest the existence of high genetic heterogeneity in CG and provide evidence for the role of GPATCH3 in this disease. We also show that GPATCH3 is a new gene involved in ocular and craniofacial development.

  13. Study on the performance of different craniofacial superimposition approaches (II): Best practices proposal.

    PubMed

    Damas, S; Wilkinson, C; Kahana, T; Veselovskaya, E; Abramov, A; Jankauskas, R; Jayaprakash, P T; Ruiz, E; Navarro, F; Huete, M I; Cunha, E; Cavalli, F; Clement, J; Lestón, P; Molinero, F; Briers, T; Viegas, F; Imaizumi, K; Humpire, D; Ibáñez, O

    2015-12-01

    Craniofacial superimposition, although existing for one century, is still a controversial technique within the scientific community. Objective and unbiased validation studies over a significant number of cases are required to establish a more solid picture on the reliability. However, there is lack of protocols and standards in the application of the technique leading to contradictory information concerning reliability. Instead of following a uniform methodology, every expert tends to apply his own approach to the problem, based on the available technology and deep knowledge on human craniofacial anatomy, soft tissues, and their relationships. The aim of this study was to assess the reliability of different craniofacial superimposition methodologies and the corresponding technical approaches to this type of identification. With all the data generated, some of the most representative experts in craniofacial identification joined in a discussion intended to identify and agree on the most important issues that have to be considered to properly employ the craniofacial superimposition technique. As a consequence, the consortium has produced the current manuscript, which can be considered the first standard in the field; including good and bad practices, sources of error and uncertainties, technological requirements and desirable features, and finally a common scale for the craniofacial matching evaluation. Such a document is intended to be part of a more complete framework for craniofacial superimposition, to be developed during the FP7-founded project MEPROCS, which will favour and standardize its proper application.

  14. BCL11B expression in intramembranous osteogenesis during murine craniofacial suture development.

    PubMed

    Holmes, Greg; van Bakel, Harm; Zhou, Xueyan; Losic, Bojan; Jabs, Ethylin Wang

    2015-01-01

    Sutures, where neighboring craniofacial bones are separated by undifferentiated mesenchyme, are major growth sites during craniofacial development. Pathologic fusion of bones within sutures occurs in a wide variety of craniosynostosis conditions and can result in dysmorphic craniofacial growth and secondary neurologic deficits. Our knowledge of the genes involved in suture formation is poor. Here we describe the novel expression pattern of the BCL11B transcription factor protein during murine embryonic craniofacial bone formation. We examined BCL11B protein expression at E14.5, E16.5, and E18.5 in 14 major craniofacial sutures of C57BL/6J mice. We found BCL11B expression to be associated with all intramembranous craniofacial bones examined. The most striking aspects of BCL11B expression were its high levels in suture mesenchyme and increasingly complementary expression with RUNX2 in differentiating osteoblasts during development. BCL11B was also expressed in mesenchyme at the non-sutural edges of intramembranous bones. No expression was seen in osteoblasts involved in endochondral ossification of the cartilaginous cranial base. BCL11B is expressed to potentially regulate the transition of mesenchymal differentiation and suture formation within craniofacial intramembranous bone.

  15. BCL11B expression in intramembranous osteogenesis during murine craniofacial suture development

    PubMed Central

    Holmes, Greg; van Bakel, Harm; Zhou, Xueyan; Losic, Bojan; Jabs, Ethylin Wang

    2014-01-01

    Sutures, where neighboring craniofacial bones are separated by undifferentiated mesenchyme, are major growth sites during craniofacial development. Pathologic fusion of bones within sutures occurs in a wide variety of craniosynostosis conditions and can result in dysmorphic craniofacial growth and secondary neurologic deficits. Our knowledge of the genes involved in suture formation is poor. Here we describe the novel expression pattern of the BCL11B transcription factor protein during murine embryonic craniofacial bone formation. We examined BCL11B protein expression at E14.5, E16.5, and E18.5 in 14 major craniofacial sutures of C57BL/6J mice. We found BCL11B expression to be associated with all intramembranous craniofacial bones examined. The most striking aspects of BCL11B expression were its high levels in suture mesenchyme and increasingly complementary expression with RUNX2 in differentiating osteoblasts during development. BCL11B was also expressed in mesenchyme at the non-sutural edges of intramembranous bones. No expression was seen in osteoblasts involved in endochondral ossification of the cartilaginous cranial base. BCL11B is expressed to potentially regulate the transition of mesenchymal differentiation and suture formation within craniofacial intramembranous bone. PMID:25511173

  16. Zebrafish Zic2a and Zic2b regulate neural crest and craniofacial development

    PubMed Central

    TeSlaa, Jessica J.; Keller, Abigail N.; Nyholm, Molly K.; Grinblat, Yevgenya

    2013-01-01

    Holoprosencephaly (HPE), the most common malformation of the human forebrain, is associated with defects of the craniofacial skeleton. ZIC2, a zinc-finger transcription factor, is strongly linked to HPE and to a characteristic set of dysmorphic facial features in humans. We have previously identified important functions for zebrafish Zic2 in the developing forebrain. Here, we demonstrate that ZIC2 orthologs zic2a and zic2b also regulate the forming zebrafish craniofacial skeleton, including the jaw and neurocranial cartilages, and use the zebrafish to study Zic2-regulated processes that may contribute to the complex etiology of HPE. Using temporally controlled Zic2a overexpression, we show that the developing craniofacial cartilages are sensitive to Zic2 elevation prior to 24hpf. This window of sensitivity overlaps the critical expansion and migration of the neural crest (NC) cells, which migrate from the developing neural tube to populate vertebrate craniofacial structures. We demonstrate that zic2b influences the induction of NC at the neural plate border, while both zic2a and zic2b regulate NC migratory onset and strongly contribute to chromatophore development. Both Zic2 depletion and early ectopic Zic2 expression cause moderate, incompletely penetrant mispatterning of the NC-derived jaw precursors at 24hpf, yet by 2dpf these changes in Zic2 expression result in profoundly mispatterned chondrogenic condensations. We attribute this discrepancy to an additional role for Zic2a and Zic2b in patterning the forebrain primordium, an important signaling source during craniofacial development. This hypothesis is supported by evidence that transplanted Zic2-deficient cells can contribute to craniofacial cartilages in a wild-type background. Collectively, these data suggest that zebrafish Zic2 plays a dual role during craniofacial development, contributing to two disparate aspects of craniofacial morphogenesis: (1) Neural crest induction and migration, and (2) early

  17. Genome-wide approaches (GWA) in oral and craniofacial diseases research

    PubMed Central

    Kim, H; Gordon, S; Dionne, R

    2012-01-01

    Underlying molecular genetic mechanisms of diseases can be deciphered with unbiased strategies using recently developed technologies enabling genome-wide scale investigations. These technologies have been applied in scanning for genetic variations, gene expression profiles, and epigenetic changes for oral and craniofacial diseases. However, these approaches as applied to oral and craniofacial conditions are in the initial stages, and challenges remain to be overcome, including analysis of high throughput data and their interpretation. Here, we review methodology and studies using genome-wide approaches in oral and craniofacial diseases and suggest future directions. PMID:22913301

  18. "False" migration of rigid fixation appliances in pediatric craniofacial surgery.

    PubMed

    Papay, F A; Hardy, S; Morales, L; Walker, M; Enlow, D

    1995-07-01

    Osseous fixation techniques have been widely used to provide rigid stabilization in the craniofacial skeleton. Reported sequelae of its usage has been limited to palpation of the screw-plate system and radiological imaging artifacts. Over the past 3 years we have identified miniplates, microplates, and wire sutures on the inner cranial table of the growing child. The observation of "false" migration of these appliances has provided the impetus to review these patients in more detail. Twenty patients underwent secondary cranial remodeling within a two-year period; 7 of these patients were seen to have "false" migration. There were no untoward sequelae in removal of these appliances, and no adverse neurological symptoms were seen.

  19. Anterior throat pain syndromes: causes for undiagnosed craniofacial pain.

    PubMed

    Shankland, Wesley E

    2010-01-01

    It is not uncommon for practitioners who treat craniofacial pain to see patients with undiagnosed throat and submandibular pain. Usually, these patients will already have been seen by their primary care physician and frequently, several others doctors including otolaryngologists, oral and maxillofacial surgeons, and even neurologists. Far too often these patients have three common features: 1. they have endured multiple expensive diagnostic tests; 2. they have received treatment of multiple courses of antibiotics; and 3. no specific diagnosis for their pain complaints has been determined and their pain persists. In this article, five disorders, Ernest syndrome, Eagle's syndrome, carotid artery syndrome, hyoid bone syndrome and superior pharyngeal constrictor syndrome are briefly described. All five produce common symptoms, making diagnosis difficult, which is often followed by ineffective or no treatment being provided to the patient. Diagnostic criteria and suggested treatment modalities are also presented.

  20. Implant-retained craniofacial prostheses for facial defects

    PubMed Central

    Federspil, Philipp A.

    2012-01-01

    Craniofacial prostheses, also known as epistheses, are artificial substitutes for facial defects. The breakthrough for rehabilitation of facial defects with implant-retained prostheses came with the development of the modern silicones and bone anchorage. Following the discovery of the osseointegration of titanium in the 1950s, dental implants have been made of titanium in the 1960s. In 1977, the first extraoral titanium implant was inserted in a patient. Later, various solitary extraoral implant systems were developed. Grouped implant systems have also been developed which may be placed more reliably in areas with low bone presentation, as in the nasal and orbital region, or the ideally pneumatised mastoid process. Today, even large facial prostheses may be securely retained. The classical atraumatic surgical technique has remained an unchanged prerequisite for successful implantation of any system. This review outlines the basic principles of osseointegration as well as the main features of extraoral implantology. PMID:22073096

  1. The emerging roles of ribosome biogenesis in craniofacial development

    PubMed Central

    Ross, Adam P.; Zarbalis, Konstantinos S.

    2014-01-01

    Neural crest cells (NCCs) are a transient, migratory cell population, which originates during neurulation at the neural folds and contributes to the majority of tissues, including the mesenchymal structures of the craniofacial skeleton. The deregulation of the complex developmental processes that guide migration, proliferation, and differentiation of NCCs may result in a wide range of pathological conditions grouped together as neurocristopathies. Recently, due to their multipotent properties neural crest stem cells have received considerable attention as a possible source for stem cell based regenerative therapies. This exciting prospect underlines the need to further explore the developmental programs that guide NCC differentiation. This review explores the particular importance of ribosome biogenesis defects in this context since a specific interface between ribosomopathies and neurocristopathies exists as evidenced by disorders such as Treacher-Collins-Franceschetti syndrome (TCS) and Diamond-Blackfan anemia (DBA). PMID:24550838

  2. Positional changes of the ocular organs during craniofacial development.

    PubMed

    Osaka, Miho; Ishikawa, Aoi; Yamada, Shigehito; Uwabe, Chigako; Imai, Hirohiko; Matsuda, Tetsuya; Yoneyama, Akio; Takeda, Tohoru; Takakuwa, Tetsuya

    2017-03-13

    The present study aimed to describe the positional changes of the ocular organs during craniofacial development; moreover, we examined the relationships among the ocular organs and other internal structures. To do this, we traced the positions of the ocular organs in 56 human early fetal samples at different stages of development using high-resolution magnetic resonance imaging and phase-contrast X-ray computed tomography. The eyes were located on the lateral side in the ventral view at Carnegie stage (CS) 16, and then changed their positions medially during development. The eyes remained in the neurocranium until CS17. However, the eyes changed their positions medially and caudally in the viscerocranium after CS18. The positional relationship between the eyes and pituitary gland changed in the lateral view as development progressed. Specifically, they were close to each other at CS17, but moved apart during the later stages of development. These positional changes were also demonstrated quantitatively with morphometric analyses. Based on the present data, the positional changes of the eyes can be categorized into phases, as follows: phase 1, dramatic positional changes (early fetal period until CS23); and phase 2, mild positional changes (stabilized; early fetal period after CS23). Notably, all absolute lengths measured in the present study linearly increased as the crown-rump length increased irrespective of the phase, while features of the measured angles and ratios differentially changed in phases 1 and 2. The present data may help improve our understanding of both the normal and abnormal development of the ocular organs and craniofacial area. This article is protected by copyright. All rights reserved.

  3. Craniocervical postural relations and craniofacial morphology in 30 blind subjects.

    PubMed

    Fjellvang, H; Solow, B

    1986-10-01

    Previous studies have shown that head posture is dependent on vision. The head posture of blind persons therefore can be expected to differ from that of normal subjects. This is of interest in the current analyses of the relation between head posture and craniofacial morphology. The purpose of the present investigation was to describe the posture of the head and cervical column and the craniofacial morphology in a group of blind subjects, and to compare the findings with those previously found in male and female groups of normal subjects. The sample comprised 30 blind subjects--18 men and 12 women, aged 15 to 35 years, all of whom had been without perception of light since birth. The control group comprised 120 male dental students in the age range 22 to 30 years and 51 female dental students in the age range 22 to 27 years. The analysis of head posture showed that the intra-and interindividual variabilities of the craniovertical angles were significantly larger than those of the craniocervical angles in the blind group. The interindividual variabilities of the craniovertical angles were significantly larger in the blind than in the control group, but the variabilities of the craniocervical angles were similar in both groups. Craniovertical relations thus were more variable in the blind subjects, whereas craniocervical relations showed the same variability as normal subjects. On the average, the head was carried in a 4.3 degrees lower position in the neck was 4.5 degrees more forward inclined in the blind group. No differences were found in the position of the head in relation to the cervical column between the two groups.(ABSTRACT TRUNCATED AT 250 WORDS)

  4. Sella turcica-Its importance in orthodontics and craniofacial morphology

    PubMed Central

    Sathyanarayana, Haritha Pottipalli; Kailasam, Vignesh; Chitharanjan, Arun B

    2013-01-01

    The sella turcica is a structure which can be readily seen on lateral cephalometric radiographs and sella point is routinely traced for various cephalometric analyses. The search was carried out using the following key words (sella turcica, bridging of sella, size, shape of sella turcica) and with the following search engine (Pubmed, Cochrane, Google scholar). The morphology is very important for the cephalometric position of the reference point sella, not only for evaluating craniofacial morphology, but also when growth changes and orthodontic treatment results are to be evaluated. This makes it a good source of additional diagnostic information related to pathology of the pituitary gland, or to various syndromes that affect the craniofacial region. Clinicians should be familiar with the normal radiographic anatomy and morphologic variability of this area, in order to recognize and investigate deviations that may reflect pathological situations, even before these become clinically apparent. During embryological development, the sella turcica area is the key point for the migration of the neural crest cells to the frontonasal and maxillary developmental fields. The neural crest cells are involved in the formation and development of sella turcica and teeth. The size of sella turcica ranges from 4 to 12 mm for the vertical and 5 to 16 mm for the anteroposterior dimension. There are many classification systems regarding the shape of sella turcica. Majority of the studies show that about 67% of the subjects had normal appearance and about 33% showed variations. The prevalence of sella turcica bridging is high in class III malocclusions and dental anomalies. PMID:24348611

  5. Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.

    PubMed

    Sirmaci, Asli; Spiliopoulos, Michail; Brancati, Francesco; Powell, Eric; Duman, Duygu; Abrams, Alex; Bademci, Guney; Agolini, Emanuele; Guo, Shengru; Konuk, Berrin; Kavaz, Asli; Blanton, Susan; Digilio, Maria Christina; Dallapiccola, Bruno; Young, Juan; Zuchner, Stephan; Tekin, Mustafa

    2011-08-12

    KBG syndrome is characterized by intellectual disability associated with macrodontia of the upper central incisors as well as distinct craniofacial findings, short stature, and skeletal anomalies. Although believed to be genetic in origin, the specific underlying defect is unknown. Through whole-exome sequencing, we identified deleterious heterozygous mutations in ANKRD11 encoding ankyrin repeat domain 11, also known as ankyrin repeat-containing cofactor 1. A splice-site mutation, c.7570-1G>C (p.Glu2524_Lys2525del), cosegregated with the disease in a family with three affected members, whereas in a simplex case a de novo truncating mutation, c.2305delT (p.Ser769GlnfsX8), was detected. Sanger sequencing revealed additional de novo truncating ANKRD11 mutations in three other simplex cases. ANKRD11 is known to interact with nuclear receptor complexes to modify transcriptional activation. We demonstrated that ANKRD11 localizes mainly to the nuclei of neurons and accumulates in discrete inclusions when neurons are depolarized, suggesting that it plays a role in neural plasticity. Our results demonstrate that mutations in ANKRD11 cause KBG syndrome and outline a fundamental role of ANKRD11 in craniofacial, dental, skeletal, and central nervous system development and function.

  6. Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia

    PubMed Central

    Sirmaci, Asli; Spiliopoulos, Michail; Brancati, Francesco; Powell, Eric; Duman, Duygu; Abrams, Alex; Bademci, Guney; Agolini, Emanuele; Guo, Shengru; Konuk, Berrin; Kavaz, Asli; Blanton, Susan; Digilio, Maria Christina; Dallapiccola, Bruno; Young, Juan; Zuchner, Stephan; Tekin, Mustafa

    2011-01-01

    KBG syndrome is characterized by intellectual disability associated with macrodontia of the upper central incisors as well as distinct craniofacial findings, short stature, and skeletal anomalies. Although believed to be genetic in origin, the specific underlying defect is unknown. Through whole-exome sequencing, we identified deleterious heterozygous mutations in ANKRD11 encoding ankyrin repeat domain 11, also known as ankyrin repeat-containing cofactor 1. A splice-site mutation, c.7570-1G>C (p.Glu2524_Lys2525del), cosegregated with the disease in a family with three affected members, whereas in a simplex case a de novo truncating mutation, c.2305delT (p.Ser769GlnfsX8), was detected. Sanger sequencing revealed additional de novo truncating ANKRD11 mutations in three other simplex cases. ANKRD11 is known to interact with nuclear receptor complexes to modify transcriptional activation. We demonstrated that ANKRD11 localizes mainly to the nuclei of neurons and accumulates in discrete inclusions when neurons are depolarized, suggesting that it plays a role in neural plasticity. Our results demonstrate that mutations in ANKRD11 cause KBG syndrome and outline a fundamental role of ANKRD11 in craniofacial, dental, skeletal, and central nervous system development and function. PMID:21782149

  7. Identifying craniofacial features associated with prenatal exposure to androgens and testing their relationship with brain development.

    PubMed

    Marečková, Klára; Chakravarty, Mallar M; Lawrence, Claire; Leonard, Gabriel; Perusse, Daniel; Perron, Michel; Pike, Bruce G; Richer, Louis; Veillette, Suzanne; Pausova, Zdenka; Paus, Tomáš

    2015-11-01

    We used magnetic resonance (MR) images obtained in same-sex and opposite-sex dizygotic twins (n = 119, 8 years of age) to study possible effects of prenatal androgens on craniofacial features. Using a principal component analysis of 19 craniofacial landmarks placed on the MR images, we identified a principal component capturing craniofacial features that distinguished females with a presumed differential exposure to prenatal androgens by virtue of having a male (vs. a female) co-twin (Cohen's d = 0.76). Subsequently, we tested the possibility that this craniofacial "signature" of prenatal exposure to androgens predicts brain size, a known sexually dimorphic trait. In an independent sample of female adolescents (singletons; n = 462), we found that the facial signature predicts up to 8% of variance in brain size. These findings are consistent with the organizational effects of androgens on brain development and suggest that the facial signature derived in this study could complement other indirect measures of prenatal exposure to androgens.

  8. Prevention of Treacher Collins syndrome craniofacial anomalies in mouse models via maternal antioxidant supplementation

    PubMed Central

    Sakai, Daisuke; Dixon, Jill; Achilleos, Annita; Dixon, Michael; Trainor, Paul A.

    2016-01-01

    Craniofacial anomalies account for approximately one-third of all birth defects and are a significant cause of infant mortality. Since the majority of the bones, cartilage and connective tissues that comprise the head and face are derived from a multipotent migratory progenitor cell population called the neural crest, craniofacial disorders are typically attributed to defects in neural crest cell development. Treacher Collins syndrome (TCS) is a disorder of craniofacial development and although TCS arises primarily through autosomal dominant mutations in TCOF1, no clear genotype–phenotype correlation has been documented. Here we show that Tcof1 haploinsufficiency results in oxidative stress-induced DNA damage and neuroepithelial cell death. Consistent with this discovery, maternal treatment with antioxidants minimizes cell death in the neuroepithelium and substantially ameliorates or prevents the pathogenesis of craniofacial anomalies in Tcof1+/− mice. Thus maternal antioxidant dietary supplementation may provide an avenue for protection against the pathogenesis of TCS and similar neurocristopathies. PMID:26792133

  9. 76 FR 20693 - National Institute of Dental & Craniofacial Research; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-04-13

    ... Emphasis Panel; Review RFA-DE-12-001, NIDCR Behavioral or Social Intervention Planning and Pilot Data Grant..., National Institute of Dental and Craniofacial Research, One Democracy Plaza, Room 670, Bethesda, MD...

  10. 76 FR 28793 - National Institute of Dental & Craniofacial Research; Notice of Closed Meetings

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-05-18

    ... HUMAN SERVICES National Institutes of Health National Institute of Dental & Craniofacial Research... commercial property such as patentable material, and personal information concerning individuals associated... review and evaluate grant applications. Place: The Dupont Hotel, 1500 New Hampshire Avenue,...

  11. PATHOGENESIS OF METHANOL-INDUCED CRANIOFACIAL DEFECTS IN C57BL/6J MICE

    EPA Science Inventory

    BACKGROUND: Methanol administered to C57BL/6J mice during gastrulation causes severe craniofacial dysmorphology. We describe dysmorphogenesis, cell death, cell cycle assessment, and effects on development of cranial ganglia and nerves observed following administration of methanol...

  12. Prevention of Treacher Collins syndrome craniofacial anomalies in mouse models via maternal antioxidant supplementation.

    PubMed

    Sakai, Daisuke; Dixon, Jill; Achilleos, Annita; Dixon, Michael; Trainor, Paul A

    2016-01-21

    Craniofacial anomalies account for approximately one-third of all birth defects and are a significant cause of infant mortality. Since the majority of the bones, cartilage and connective tissues that comprise the head and face are derived from a multipotent migratory progenitor cell population called the neural crest, craniofacial disorders are typically attributed to defects in neural crest cell development. Treacher Collins syndrome (TCS) is a disorder of craniofacial development and although TCS arises primarily through autosomal dominant mutations in TCOF1, no clear genotype-phenotype correlation has been documented. Here we show that Tcof1 haploinsufficiency results in oxidative stress-induced DNA damage and neuroepithelial cell death. Consistent with this discovery, maternal treatment with antioxidants minimizes cell death in the neuroepithelium and substantially ameliorates or prevents the pathogenesis of craniofacial anomalies in Tcof1(+/-) mice. Thus maternal antioxidant dietary supplementation may provide an avenue for protection against the pathogenesis of TCS and similar neurocristopathies.

  13. Fibroblast growth factor (FGF) signaling in development and skeletal diseases

    PubMed Central

    Teven, Chad M.; Farina, Evan M.; Rivas, Jane; Reid, Russell R.

    2014-01-01

    Fibroblast growth factors (FGF) and their receptors serve many functions in both the developing and adult organism. Humans contain 18 FGF ligands and four FGF receptors (FGFR). FGF ligands are polypeptide growth factors that regulate several developmental processes including cellular proliferation, differentiation, and migration, morphogenesis, and patterning. FGF-FGFR signaling is also critical to the developing axial and craniofacial skeleton. In particular, the signaling cascade has been implicated in intramembranous ossification of cranial bones as well as cranial suture homeostasis. In the adult, FGFs and FGFRs are crucial for tissue repair. FGF signaling generally follows one of three transduction pathways: RAS/MAP kinase, PI3/AKT, or PLCγ. Each pathway likely regulates specific cellular behaviors. Inappropriate expression of FGF and improper activation of FGFRs are associated with various pathologic conditions, unregulated cell growth, and tumorigenesis. Additionally, aberrant signaling has been implicated in many skeletal abnormalities including achondroplasia and craniosynostosis. The biology and mechanisms of the FGF family have been the subject of significant research over the past 30 years. Recently, work has focused on the therapeutic targeting and potential of FGF ligands and their associated receptors. The majority of FGF-related therapy is aimed at age-related disorders. Increased understanding of FGF signaling and biology may reveal additional therapeutic roles, both in utero and postnatally. This review discusses the role of FGF signaling in general physiologic and pathologic embryogenesis and further explores it within the context of skeletal development. PMID:25679016

  14. Fibroblast growth factor (FGF) signaling in development and skeletal diseases.

    PubMed

    Teven, Chad M; Farina, Evan M; Rivas, Jane; Reid, Russell R

    2014-12-01

    Fibroblast growth factors (FGF) and their receptors serve many functions in both the developing and adult organism. Humans contain 18 FGF ligands and four FGF receptors (FGFR). FGF ligands are polypeptide growth factors that regulate several developmental processes including cellular proliferation, differentiation, and migration, morphogenesis, and patterning. FGF-FGFR signaling is also critical to the developing axial and craniofacial skeleton. In particular, the signaling cascade has been implicated in intramembranous ossification of cranial bones as well as cranial suture homeostasis. In the adult, FGFs and FGFRs are crucial for tissue repair. FGF signaling generally follows one of three transduction pathways: RAS/MAP kinase, PI3/AKT, or PLCγ. Each pathway likely regulates specific cellular behaviors. Inappropriate expression of FGF and improper activation of FGFRs are associated with various pathologic conditions, unregulated cell growth, and tumorigenesis. Additionally, aberrant signaling has been implicated in many skeletal abnormalities including achondroplasia and craniosynostosis. The biology and mechanisms of the FGF family have been the subject of significant research over the past 30 years. Recently, work has focused on the therapeutic targeting and potential of FGF ligands and their associated receptors. The majority of FGF-related therapy is aimed at age-related disorders. Increased understanding of FGF signaling and biology may reveal additional therapeutic roles, both in utero and postnatally. This review discusses the role of FGF signaling in general physiologic and pathologic embryogenesis and further explores it within the context of skeletal development.

  15. Effectiveness of interceptive treatment of class III malocclusions with skeletal anchorage: A systematic review and meta-analysis

    PubMed Central

    Rodríguez de Guzmán-Barrera, Jorge; Sáez Martínez, Carla; Boronat-Catalá, Montserrat; Montiel-Company, Jose María; Paredes-Gallardo, Vanessa; Gandía-Franco, José Luís; Almerich-Silla, José Manuel; Bellot-Arcís, Carlos

    2017-01-01

    Recently, new strategies for treating class III malocclusions have appeared. Skeletal anchorage appears to reduce the dentoalveolar effects while maximising the orthopaedic effect in growing patients. The purpose of this systematic review and meta-analysis is to examine the effectiveness of bone anchorage devices for interceptive treatment of skeletal class III malocclusions. Searches were made in the Pubmed, Embase, Scopus and Cochrane databases, as well as in a grey literature database, and were complemented by hand-searching. The criteria for eligibility were: patients who had undergone orthodontic treatment with skeletal anchorage (miniplates and miniscrews). Patients with syndromes or craniofacial deformities or who had undergone maxillofacial surgery were excluded. The following variables were recorded for each article: author, year of publication, type of study, sample size, dropouts, demographic variables, treatment carried out, radiographic study (2D or 3D), follow-up time, and quality of the articles on the Newcastle-Ottawa Scale. The means and confidence intervals of the following variables were employed: Wits, overjet, ANB, SNA and SNB. Initially, 239 articles were identified. After removing the duplicates and applying the selection criteria, 9 were included in the qualitative synthesis and 7 in the quantitative synthesis (meta-analysis). It may be concluded that skeletal anchorage is an effective treatment for improving skeletal Class III malocclusion, but when compared with other traditional treatments such as disjunction and face mask, there is no clear evidence that skeletal anchorage improves the results. PMID:28328995

  16. An Atypical Presentation of Multiple Central Osteomas Mimicking Craniofacial Fibrous Dysplasia – A Pictorial Essay

    PubMed Central

    Mhapuskar, Amit A; Hebbale, Manjula; Tepan, Meenal; Ayushee

    2016-01-01

    Osteoma is benign neoplasm with slow growth characterized by deposition of compact lamellar cortical or cancellous bone creating a tumour mass. It is still unclear whether osteomas are benign neoplasms or hamartomas. They have typical clinical presentations and are easily diagnosed with the help of radiographs. We present a rare case of non-syndromic multiple osteomas in the craniofacial region which are typically restricted to the midline and presents radiographically as craniofacial fibrous dysplasia causing a diagnostic dilemma. PMID:28050513

  17. Two cases of orbital dystopia: Tessier III cleft and craniofacial osteomas.

    PubMed

    Furnas, D W; Achauer, B M

    1981-01-01

    Two cases of orbital dystopia are reported. One was caused by a Tessier III cleft and was treated by cranio-facial osteotomies of three walls of the orbit, allowing the left to be moved upward. The second involved multiple craniofacial osteomas and was treated by extractional osteotomies of four walls of the orbit including a transverse split of the roof. These osteotomies were entirely extramucosal.

  18. Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression

    PubMed Central

    Quintana, Anita M.; Geiger, Elizabeth A.; Achilly, Nate; Rosenblatt, David S.; Maclean, Kenneth N.; Stabler, Sally P.; Artinger, Kristin B.; Appel, Bruce; Shaikh, Tamim H.

    2014-01-01

    Mutations in HCFC1 (MIM300019), have been recently associated with cblX (MIM309541), an X-linked, recessive disorder characterized by multiple congenital anomalies including craniofacial abnormalities. HCFC1 is a transcriptional co-regulator that modulates the expression of numerous downstream target genes including MMACHC, but it is not clear how these HCFC1 targets play a role in the clinical manifestations of cblX. To begin to elucidate the mechanism by which HCFC1 modulates disease phenotypes, we have carried out loss of function analyses in the developing zebrafish. Of the two HCFC1 orthologs in zebrafish, hcfc1a and hcfc1b, the loss of hcfc1b specifically results in defects in craniofacial development. Subsequent analysis revealed that hcfc1b regulates cranial neural crest cell differentiation and proliferation within the posterior pharyngeal arches. Further, the hcfc1b-mediated craniofacial abnormalities were rescued by expression of human MMACHC, a downstream target of HCFC1 that is aberrantly expressed in cblX. Furthermore, we tested distinct human HCFC1 mutations for their role in craniofacial development and demonstrated variable effects on MMACHC expression in humans and craniofacial development in zebrafish. Notably, several individuals with mutations in either HCFC1 or MMACHC have been reported to have mild to moderate facial dysmorphia. Thus, our data demonstrates that HCFC1 plays a role in craniofacial development, which is in part mediated through the regulation of MMACHC expression. PMID:25281006

  19. The role of sonic hedgehog in normal and abnormal craniofacial morphogenesis.

    PubMed

    Hu, D; Helms, J A

    1999-11-01

    There is growing evidence that implicates a role for Sonic hedgehog (SHH) in morphogenesis of the craniofacial complex. Mutations in human and murine SHH cause midline patterning defects that are manifested in the head as holoprosencephaly and cyclopia. In addition, teratogens such as jervine, which inhibit the response of tissues to SHH, also produce cyclopia. Thus, the loss of SHH signaling during early stages of neural plate patterning has a profound influence of craniofacial morphogenesis. However, the severity of these defects precludes analyses of SHH function during later stages of craniofacial development. We have used an embryonic chick system to study the role of SHH during these later stages of craniofacial development. Using a combination of surgical and molecular experiments, we show here that SHH is essential for morphogenesis of the frontonasal and maxillary processes (FNP and MXPs), which give rise to the mid- and upper face. Transient loss of SHH signaling in the embryonic face inhibits growth of the primordia and results in defects analogous to hypotelorism and cleft lip/palate, characteristics of the mild forms of holoprosencephaly. In contrast, excess SHH leads to a mediolateral widening of the FNP and a widening between the eyes, a condition known as hypertelorism. In severe cases, this widening is accompanied by facial duplications. Collectively, these experiments demonstrate that SHH has multiple and profound effects on the entire spectrum of craniofacial development, and perturbations in SHH signaling are likely to underlie a number of human craniofacial anomalies.

  20. Common mechanisms in development and disease: BMP signaling in craniofacial development

    PubMed Central

    Graf, Daniel; Malik, Zeba; Hayano, Satoru; Mishina, Yuji

    2015-01-01

    BMP signaling is one of the key pathways regulating craniofacial development. It is involved in the early pattering of the head, the development of cranial neural crest cells, and facial patterning. It regulates development of its mineralized structures, such as cranial bones, maxilla, mandible, palate, and teeth. Targeted mutations in the mouse have been instrumental to delineate the functional involvement of this signaling network in different aspects of craniofacial development. Gene polymorphisms and mutations in BMP pathway genes have been associated with various non-syndromic and syndromic human craniofacial malformations. The identification of intricate cellular interactions and underlying molecular pathways illustrate the importance of local fine-regulation of Bmp signaling to control proliferation, apoptosis, epithelial-mesenchymal interactions, and stem/progenitor differentiation during craniofacial development. Thus, BMP signaling contributes both to shape and functionality of our facial features. BMP signaling also regulates postnatal craniofacial growth and is associated with dental structures life-long. A more detailed understanding of BMP function in growth, homeostasis, and repair of postnatal craniofacial tissues will contribute to our ability to rationally manipulate this signaling network in the context of tissue engineering. PMID:26747371

  1. Partial craniofacial duplication: a review of the literature and case report.

    PubMed

    Costa, Melinda A; Borzabadi-Farahani, Ali; Lara-Sanchez, Pedro A; Schweitzer, Daniela; Jacobson, Lia; Clarke, Noreen; Hammoudeh, Jeffery; Urata, Mark M; Magee, William P

    2014-06-01

    Diprosopus (Greek; di-, "two" + prosopon, "face"), or craniofacial duplication, is a rare craniofacial anomaly referring to the complete duplication of facial structures. Partial craniofacial duplication describes a broad spectrum of congenital anomalies, including duplications of the oral cavity. This paper describes a 15 month-old female with a duplicated oral cavity, mandible, and maxilla. A Tessier type 7 cleft, midline meningocele, and duplicated hypophysis were also present. The preoperative evaluation, surgical approach, postoperative results, and a review of the literature are presented. The surgical approach was designed to preserve facial nerve innervation to the reconstructed cheek and mouth. The duplicated mandible and maxilla were excised and the remaining left maxilla was bone grafted. Soft tissue repair included closure of the Tessier type VII cleft. Craniofacial duplication remains a rare entity that is more common in females. The pathophysiology remains incompletely characterized, but is postulated to be due to duplication of the notochord, as well as duplication of mandibular growth centres. While diprosopus is a severe deformity often associated with anencephaly, patients with partial duplication typically benefit from surgical treatment. Managing craniofacial duplication requires a detailed preoperative evaluation as well as a comprehensive, staged treatment plan. Long-term follow up is needed appropriately to address ongoing craniofacial deformity.

  2. Gravity and Skeletal Growth

    NASA Technical Reports Server (NTRS)

    Morey-Holton, Emily; Turner, Russell T.

    1999-01-01

    Two simultaneous experiments were performed using 5-week-old male Sprague Dawley rats; in one study, the rats were flown in low earth orbit; in the other study, the hindlimbs of the growing rats were elevated to prevent weight bearing. Following 9 d of unloading, weight bearing was restored for 4, 28, and 76 hrs. Afterwards, additional hindlimb unloading experiments were performed to evaluate the skeletal response to 0, 2, 4, 6, 8, 10, 12, 16, and 24 hrs of restored weight bearing following 7 d of unloading. Cancellous and cortical bone histomorphometry were evaluated in the left tibia at the proximal metaphysis and in the left femur at mid-diaphysis, respectively. Steady-state mRNA levels for bone matrix proteins and skeletal signaling peptides were determined in total cellular RNA extracted from trabeculae from the right proximal tibiametaphysis and periosteum from the right femur. Spaceflight and hindlimb unloading each resulted in cancellous osteopenia, as well as a tendency towards decreased periosteal bone formation. Both models for skeletal unloading resulted in site specific reductions in mRNA levels for transforming growth factor-beta (sub 1) (TGF-beta) osteocalcin (OC), and prepro-alpha (I) subunit of type 1 collagen (collagen) and little or no changes in mRNA levels for glyceraldehyde-3-phosphate dehydrogenase (GAP) and insulin-like growth factor I (IGF-I). Restoration of normal weight bearing resulted in transient increases in mRNA levels for the bone matrix proteins and TGF-beta in the proximal metaphysis and periosteum and no changes in either GAP or IGF-I mRNA levels. The timecourse for the response differed between the two skeletal compartments; the tibial metaphysis responded much more quickly to reloading. These results suggest that the skeletal adaptation to acute physiological changes in mechanical usage are mediated, in part, by changes in mRNA levels for bone matrix proteins and TGF-beta.

  3. [Personal identification using information from cranio-facial region].

    PubMed

    Minaguchi, Kiyoshi

    2007-11-01

    Much of Forensic Odontology is concerned with personal identification, through examination of cranio-facial region. This paper describes several studies in which we worked with materials derived from cranio-facial region. The following topics are addressed : (1) Human saliva contains proteins specific to salivary glands, proteins which are highly polymorphic compared with those found in other body fluids. In particular, six genes for proline-rich proteins coded many proteins found in human saliva, and we found several of them. At least five kinds of cystatin are secreted in saliva. We constructed recombinant polymorphic proteins, cystatin SAl and SA2. Using these proteins, we compared effects of amino acid mutation on protease inhibitor activity, and demonstrated a novel function for type-2 cystatin cytokine-inducing activity. (2) Among autosomal STR loci, we identified the D12S67 locus as highly polymorphic, with a heterozygosity of 95%, by investigating differences in nucleotide repeat units. Highly polymorphic autosomal STR loci offer an effective forensic tool under certain conditions, in addition to multiplex PCR, and therefore merit further study in forensic practice. (3) Although digitalization is prevalent in photography, analog images are preferable in certain circumstances as they offer better resolution. (4) Usually, information on mtDNA polymorphisms from HV1 and HV2 in the control region is used in forensic practice. However, information from the coding region considerably increases the discrimination power of mtDNA polymorphisms. It is important to increase the volume of coding region information available with regard to mtDNA polymorphisms for future forensic practice. (5) Y-STR polymorphisms are closely associated with binary haplogroups, and it is possible to estimate a binary haplogroup from an STR haplotype. (6) Mitochondrial DNA and Y-chromosomal polymorphisms can be used to determine geographic origin in individuals from East Asia, something

  4. Influence of prenatal EGCG treatment and Dyrk1a dosage reduction on craniofacial features associated with Down syndrome.

    PubMed

    McElyea, Samantha D; Starbuck, John M; Tumbleson-Brink, Danika M; Harrington, Emily; Blazek, Joshua D; Ghoneima, Ahmed; Kula, Katherine; Roper, Randall J

    2016-09-05

    Trisomy 21 (Ts21) affects craniofacial precursors in individuals with Down syndrome (DS). The resultant craniofacial features in all individuals with Ts21 may significantly affect breathing, eating and speaking. Using mouse models of DS, we have traced the origin of DS-associated craniofacial abnormalities to deficiencies in neural crest cell (NCC) craniofacial precursors early in development. Hypothetically, three copies of Dyrk1a (dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A), a trisomic gene found in most humans with DS and mouse models of DS, may significantly affect craniofacial structure. We hypothesized that we could improve DS-related craniofacial abnormalities in mouse models using a Dyrk1a inhibitor or by normalizing Dyrk1a gene dosage. In vitro and in vivo treatment with Epigallocatechin-3-gallate (EGCG), a Dyrk1a inhibitor, modulated trisomic NCC deficiencies at embryonic time points. Furthermore, prenatal EGCG treatment normalized some craniofacial phenotypes, including cranial vault in adult Ts65Dn mice. Normalization of Dyrk1a copy number in an otherwise trisomic Ts65Dn mice normalized many dimensions of the cranial vault, but did not correct all craniofacial anatomy. These data underscore the complexity of the gene-phenotype relationship in trisomy and suggest that changes in Dyrk1a expression play an important role in morphogenesis and growth of the cranial vault. These results suggest that a temporally specific prenatal therapy may be an effective way to ameliorate some craniofacial anatomical changes associated with DS.

  5. Tissue Repair and Regeneration Following Orthopedic and Craniofacial Trauma

    DTIC Science & Technology

    2012-07-01

    33146-0431, United States ABSTRACT: Skeletal diseases have a major impact on the worldwide population and economy. Although several therapeutic agents...and treatments are available for addressing bone diseases , they are not being fully utilized because of their uptake in nontargeted sites and related...side effects. Active targeting with controlled delivery is an ideal approach for treatment of such diseases . Because bisphosphonates are known to

  6. [Genes, forces and forms: mechanical aspects of prenatal craniofacial development].

    PubMed

    Radlanski, Ralf J; Renz, Herbert

    2007-12-01

    Current knowledge of molecular signaling during craniofacial development is advancing rapidly. We know that cells can respond to mechanical stimuli by biochemical signaling. Thus, the link between mechanical stimuli and gene expression has become a new and important area of the morphological sciences. This field of research seems to be a revival of the old approach of developmental mechanics, which goes back to the embryologists His [36], Carey [13, 14], and Blechschmidt [5]. These researchers argued that forces play a fundamental role in tissue differentiation and morphogenesis. They understood morphogenesis as a closed system with living cells as the active part and biological, chemical, and physical laws as the rules. This review reports on linking mechanical aspects of developmental biology with the contemporary knowledge of tissue differentiation. We focus on the formation of cartilage (in relation to pressure), bone (in relation to shearing forces), and muscles (in relation to dilation forces). The cascade of molecules may be triggered by forces, which arise during physical cell and tissue interaction. Detailed morphological knowledge is mandatory to elucidate the exact location and timing of the regions where forces are exerted. Because this finding also holds true for the exact timing and location of signals, more 3D images of the developmental processes are required. Further research is also required to create methods for measuring forces within a tissue. The molecules whose presence and indispensability we are investigating appear to be mediators rather than creators of form.

  7. Genes, forces, and forms: mechanical aspects of prenatal craniofacial development.

    PubMed

    Radlanski, Ralf J; Renz, Herbert

    2006-05-01

    Current knowledge of molecular signaling during craniofacial development is advancing rapidly. We know that cells can respond to mechanical stimuli by biochemical signaling. Thus, the link between mechanical stimuli and gene expression has become a new and important area of the morphological sciences. This field of research seems to be a revival of the old approach of developmental mechanics, which goes back to the embryologists His (1874), Carey (1920), and Blechschmidt (1948). These researchers argued that forces play a fundamental role in tissue differentiation and morphogenesis. They understood morphogenesis as a closed system with living cells as the active part and biological, chemical, and physical laws as the rules. This review reports on linking mechanical aspects of developmental biology with the contemporary knowledge of tissue differentiation. We focus on the formation of cartilage (in relation to pressure), bone (in relation to shearing forces), and muscles (in relation to dilation forces). The cascade of molecules may be triggered by forces, which arise during physical cell and tissue interaction. Detailed morphological knowledge is mandatory to elucidate the exact location and timing of the regions where forces are exerted. Because this finding also holds true for the exact timing and location of signals, more 3D images of the developmental processes are required. Further research is also required to create methods for measuring forces within a tissue. The molecules whose presence and indispensability we are investigating appear to be mediators rather than creators of form.

  8. STRAIN-SPECIFIC MODIFIER GENES GOVERNING CRANIOFACIAL PHENOTYPES

    PubMed Central

    Mukhopadhyay, Partha; Brock, Guy; Webb, Cynthia; Pisano, M. Michele; Greene, Robert M

    2012-01-01

    BACKGROUND The presence of strain-specific modifier genes is known to modulate the phenotype and pathophysiology of mice harboring genetically engineered mutations. Thus, identification of genetic modifier genes is requisite to understanding control of phenotypic expression. c-Ski is a transcriptional regulator. Ski−/− mice on a C57BL6J (B6) background exhibit facial clefting, while Ski−/− mice on a 129P3 (129) background present with exencephaly. METHODS In the present study, oligonucleotide-based gene expression profiling was utilized to identify potential strain-specific modifier gene candidates present in wild-type mice of B6 and 129 genetic backgrounds. Changes in gene expression were verified by TaqMan quantitative real-time PCR. RESULTS Steady-state levels of 89 genes demonstrated a significantly higher level of expression, and those of 68 genes demonstrated a significantly lower level of expression in the developing neural tubes from E8.5, B6 embryos when compared to expression levels in neural tubes derived from E8.5, 129 embryos. CONCLUSIONS Based on the results from the current comparative microarray study, and taking into consideration a number of relevant published reports, several potential strain-specific gene candidates, likely to modify the craniofacial phenotypes in various knockout mouse models have been identified. PMID:22371338

  9. Assessment of Stability of Craniofacial Implants by Resonant Frequency Analysis.

    PubMed

    Ivanjac, Filip; Konstantinović, Vitomir S; Lazić, Vojkan; Dordević, Igor; Ihde, Stefan

    2016-03-01

    Implant stability is a principal precondition for the success of implant therapy. Extraoral implants (EO) are mainly used for anchoring of maxillofacial epithesis. However, assessment of implant stability is mostly based on principles derived from oral implants. The aim of this study was to investigate clinical stability of EO craniofacial disk implants (single, double, and triple) by resonance frequency analysis at different stages of the bone's healing. Twenty patients with orbital (11), nasal (5), and auricular (4) defects with 50 EO implants placed for epithesis anchorage were included. Implant stability was measured 3 times; after implant placement, at 3 months and at least after 6 months. A significant increase in implant stability values was noted between all of the measurements, except for triple-disk implants between third and sixth months, and screw implants between 0 and third months. Disk implants showed lower implant stability quotient (ISQ) values compared with screw implants. Triple-disk implants showed better stability compared with single and double-disk implants. Based on resonance frequency analysis values, disk implants could be safely loaded when their ISQ values are 38 (single disks), 47 (double disks), and 48 (triple disks). According to resonance frequency analysis, disk implant stability increased over time, which showed good osseointegration and increasing mineralization. Although EO screw implants showed higher ISQ values than disk implants, disk-type implants can be safely loaded even if lower values of stability are measured.

  10. A standardized nomenclature for craniofacial and facial anthropometry.

    PubMed

    Caple, Jodi; Stephan, Carl N

    2016-05-01

    Standardized terms and methods have long been recognized as crucial to reduce measurement error and increase reliability in anthropometry. The successful prior use of craniometric landmarks makes extrapolation of these landmarks to the soft tissue context, as analogs, intuitive for forensic craniofacial analyses and facial photogrammetry. However, this extrapolation has not, so far, been systematic. Instead, varied nomenclature and definitions exist for facial landmarks, and photographic analyses are complicated by the generalization of 3D craniometric landmarks to the 2D face space where analogy is subsequently often lost, complicating anatomical assessments. For example, landmarks requiring palpation of the skull or the examination of the 3D surface typology are impossible to legitimately position; similar applies to median landmarks not visible in lateral photographs. To redress these issues without disposing of the craniometric framework that underpins many facial landmarks, we provide an updated and transparent nomenclature for facial description. This nomenclature maintains the original craniometric intent (and base abbreviations) but provides clear distinction of ill-defined (quasi) landmarks in photographic contexts, as produced when anatomical points are subjectively inferred from shape-from-shading information alone.

  11. Independence of biomechanical forces and craniofacial pneumatization in Cebus.

    PubMed

    Rae, Todd C; Koppe, Thomas

    2008-11-01

    Several different factors have been hypothesized as explanations of variation in primate paranasal sinus size. Biomechanical forces, particularly those associated with mastication, are frequently evoked to account for differences in primate craniofacial pneumatization. To test whether masticatory stresses are responsible for maxillary sinus volume diversity, two platyrrhine species of the genus Cebus (C. apella and C. albifrons) were examined. The former has been identified as a hard object feeder, and many morphological differences between the two species are attributable to differences in the mechanical properties of their respective diets. Sinus volumes were derived from serial coronal CT scans of the crania of adults. Several external cranial measurements were used to scale sinus volume relative to the size of the face. Relative measures of maxillary sinus volume were compared using standard statistical techniques. In all comparisons, the two capuchin species do not differ from one another significantly at P < 0.05. Thus, this "natural experiment" fails to support the interpretation that biomechanical forces acting on the facial skeleton substantially affect the degree of paranasal pneumatization in primates. This result suggests that it is unlikely that the maxillary sinus performs any function in relation to masticatory stress; other factors must be responsible for the variation in sinus volume among primates.

  12. General and craniofacial development are complex adaptive processes influenced by diversity.

    PubMed

    Brook, A H; O'Donnell, M Brook; Hone, A; Hart, E; Hughes, T E; Smith, R N; Townsend, G C

    2014-06-01

    Complex systems are present in such diverse areas as social systems, economies, ecosystems and biology and, therefore, are highly relevant to dental research, education and practice. A Complex Adaptive System in biological development is a dynamic process in which, from interacting components at a lower level, higher level phenomena and structures emerge. Diversity makes substantial contributions to the performance of complex adaptive systems. It enhances the robustness of the process, allowing multiple responses to external stimuli as well as internal changes. From diversity comes variation in outcome and the possibility of major change; outliers in the distribution enhance the tipping points. The development of the dentition is a valuable, accessible model with extensive and reliable databases for investigating the role of complex adaptive systems in craniofacial and general development. The general characteristics of such systems are seen during tooth development: self-organization; bottom-up emergence; multitasking; self-adaptation; variation; tipping points; critical phases; and robustness. Dental findings are compatible with the Random Network Model, the Threshold Model and also with the Scale Free Network Model which has a Power Law distribution. In addition, dental development shows the characteristics of Modularity and Clustering to form Hierarchical Networks. The interactions between the genes (nodes) demonstrate Small World phenomena, Subgraph Motifs and Gene Regulatory Networks. Genetic mechanisms are involved in the creation and evolution of variation during development. The genetic factors interact with epigenetic and environmental factors at the molecular level and form complex networks within the cells. From these interactions emerge the higher level tissues, tooth germs and mineralized teeth. Approaching development in this way allows investigation of why there can be variations in phenotypes from identical genotypes; the phenotype is the outcome

  13. Skeletal tuberculosis in children.

    PubMed

    Teo, Harvey E L; Peh, Wilfred C G

    2004-11-01

    The objective of this review is to present the imaging findings of skeletal tuberculosis in children. The incidence of tuberculosis is increasing and skeletal tuberculosis accounts for 10-20% of all extra-pulmonary cases. The most common manifestations of skeletal tuberculosis in children are spondylitis, arthritis and osteomyelitis. Tuberculous spondylitis involves the intervertebral disc only late in the disease. Subligamentous spread of the infection may lead to multiple levels of vertebral body involvement that may either be continuous or skipped. Extension of the disease into the paravertebral or extra-dural space may occur. Tuberculous arthritis usually occurs as a result of metaphyseal spread to the joint. Tuberculous osteomyelitis may appear as cystic, well-defined lesions, infiltrative lesions or spina ventosa. The latter is a term used to describe a form of tuberculous osteomyelitis where underlying bone destruction, overlying periosteal reaction and fusiform expansion of the bone results in cyst-like cavities with diaphyseal expansion. Radiographs are still the mainstay of evaluation of patients with bony lesions. Ultrasonography can detect soft-tissue extension of the bony lesions and guide drainage or biopsy procedures. CT accurately demonstrates bony sclerosis and destruction, especially in areas difficult to assess on radiographs such as the posterior elements of the vertebral body. MRI is the modality of choice in evaluating early marrow involvement and soft-tissue extension of the lesion.

  14. Perinatal stem cells: A promising cell resource for tissue engineering of craniofacial bone

    PubMed Central

    Si, Jia-Wen; Wang, Xu-Dong; Shen, Steve GF

    2015-01-01

    In facing the mounting clinical challenge and suboptimal techniques of craniofacial bone defects resulting from various conditions, such as congenital malformations, osteomyelitis, trauma and tumor resection, the ongoing research of regenerative medicine using stem cells and concurrent advancement in biotechnology have shifted the focus from surgical reconstruction to a novel stem cell-based tissue engineering strategy for customized and functional craniofacial bone regeneration. Given the unique ontogenetical and cell biological properties of perinatal stem cells, emerging evidence has suggested these extraembryonic tissue-derived stem cells to be a promising cell source for extensive use in regenerative medicine and tissue engineering. In this review, we summarize the current achievements and obstacles in stem cell-based craniofacial bone regeneration and subsequently we address the characteristics of various types of perinatal stem cells and their novel application in tissue engineering of craniofacial bone. We propose the promising feasibility and scope of perinatal stem cell-based craniofacial bone tissue engineering for future clinical application. PMID:25621114

  15. Three-Dimensional Bioprinting for Regenerative Dentistry and Craniofacial Tissue Engineering.

    PubMed

    Obregon, F; Vaquette, C; Ivanovski, S; Hutmacher, D W; Bertassoni, L E

    2015-09-01

    Craniofacial tissues are organized with complex 3-dimensional (3D) architectures. Mimicking such 3D complexity and the multicellular interactions naturally occurring in craniofacial structures represents one of the greatest challenges in regenerative dentistry. Three-dimensional bioprinting of tissues and biological structures has been proposed as a promising alternative to address some of these key challenges. It enables precise manufacture of various biomaterials with complex 3D architectures, while being compatible with multiple cell sources and being customizable to patient-specific needs. This review describes different 3D bioprinting methods and summarizes how different classes of biomaterials (polymer hydrogels, ceramics, composites, and cell aggregates) may be used for 3D biomanufacturing of scaffolds, as well as craniofacial tissue analogs. While the fabrication of scaffolds upon which cells attach, migrate, and proliferate is already in use, printing of all the components that form a tissue (living cells and matrix materials together) to produce tissue constructs is still in its early stages. In summary, this review seeks to highlight some of the key advantages of 3D bioprinting technology for the regeneration of craniofacial structures. Additionally, it stimulates progress on the development of strategies that will promote the translation of craniofacial tissue engineering from the laboratory bench to the chair side.

  16. Psychological and Social Factors in Undergoing Reconstructive Surgery Among Individuals With Craniofacial Conditions: An Exploratory Study

    PubMed Central

    Bemmels, Heather; Biesecker, Barbara; Schmidt, Johanna L.; Krokosky, Alyson; Guidotti, Rick; Sutton, Erica J.

    2012-01-01

    Objective Reconstructive surgery to improve psychological well-being is commonly offered to children with craniofacial conditions. Few studies have explored the challenges of reconstructive surgery beyond the physical risks: poor treatment outcomes, infection, brain damage, and death. This qualitative study aims to understand the psychological and social implications such interventions can have for individuals with craniofacial conditions. Design A total of 38 individuals between the ages of 12 and 61 with such craniofacial conditions as Sturge-Weber syndrome, Treacher Collins syndrome, Möbius syndrome, cleft lip and palate, Noonan syndrome, Crouzon syndrome, and amniotic band syndrome participated in semistructured video-recorded interviews. Participants were recruited at conferences, through study flyers, and by word of mouth. Descriptive, thematic analysis was used to identify themes related to reconstructive surgery. Results Dominant themes included undergoing surgery to reduce stigmatization, the psychological and social implications of the interventions, outcome satisfaction, parental involvement in decision making about surgery, and recommendations for parents considering surgery for their children with craniofacial conditions. Experiences with reconstructive surgery varied, with some participants expressing surgical benefits and others, disillusionment. Conclusions The range of participant attitudes and experiences reflect the complexity of reconstructive surgery. Pediatric health care teams involved in the care of children with craniofacial conditions play an important role in advising patients (and their parents) about existing treatment options. The psychological and social implications of reconstructive surgery should be relayed to help families weigh the risks and benefits of surgery in an informed and meaningful way. PMID:22315960

  17. Craniofacial and cervical morphology related to sagittal spinal posture in children and adolescents.

    PubMed

    Segatto, Emil; Segatto, Angyalka; Braunitzer, Gábor; Kirschneck, Christian; Fanghänel, Jochen; Danesh, Gholamreza; Lippold, Carsten

    2014-01-01

    Studies on the relationship between body posture and craniofacial parameters often focus on the cervical spine. Thus, less attention has been paid to the morphology of the vertebra C2 that serves as both a structural and functional link between the craniofacial area and the other part of the spine. The objective of this study was to assess the relation of craniofacial features to certain morphological and positional characteristics of the cervical vertebrae and the spine during growth. We determined body posture indices for 69 children and adolescents by means of a radiation-free method (rasterstereography). The morphological and positional analysis of the craniofacial area and the cervical vertebrae was based on standardized lateral X-ray cephalograms. Medium to strong correlations were found between body posture, C2 morphology, and craniofacial parameters. We found significant correlations between the C2 dens axis height and maxillary indices as well as between the C2 dens axis inclination and cephalometrical values of the mandibular area. Similarly the correlation between the C2 dens axis inclination and the postural index flèche cervicale was highly significant (P < 0.05, r = 0.333). These results suggest that morphological features of the odontoid process may serve as valuable predictive markers in interdisciplinary orthopedic-orthodontic diagnostics.

  18. Craniofacial and Cervical Morphology Related to Sagittal Spinal Posture in Children and Adolescents

    PubMed Central

    Segatto, Angyalka; Braunitzer, Gábor

    2014-01-01

    Studies on the relationship between body posture and craniofacial parameters often focus on the cervical spine. Thus, less attention has been paid to the morphology of the vertebra C2 that serves as both a structural and functional link between the craniofacial area and the other part of the spine. The objective of this study was to assess the relation of craniofacial features to certain morphological and positional characteristics of the cervical vertebrae and the spine during growth. We determined body posture indices for 69 children and adolescents by means of a radiation-free method (rasterstereography). The morphological and positional analysis of the craniofacial area and the cervical vertebrae was based on standardized lateral X-ray cephalograms. Medium to strong correlations were found between body posture, C2 morphology, and craniofacial parameters. We found significant correlations between the C2 dens axis height and maxillary indices as well as between the C2 dens axis inclination and cephalometrical values of the mandibular area. Similarly the correlation between the C2 dens axis inclination and the postural index flèche cervicale was highly significant (P < 0.05, r = 0.333). These results suggest that morphological features of the odontoid process may serve as valuable predictive markers in interdisciplinary orthopedic-orthodontic diagnostics. PMID:25276804

  19. Correlation between maximum bite force and craniofacial morphology of young adults in Indonesia.

    PubMed

    Sondang, P; Kumagai, H; Tanaka, E; Ozaki, H; Nikawa, H; Tanne, K; Hamada, T

    2003-11-01

    The present study was conducted to evaluate the relationship between maximum bite force and craniofacial morphology. Sixty-four Indonesian female dental students aged 19-27 years with normal occlusion served as the subjects. The Dental Prescale System was used to measure the maximum bite force using a pressure sensitive sheets while craniofacial morphology measurements were determined from conventional lateral radiograms. The antero-posterior and right-left position of the occlusal load centre (the OLC) were measured also. Stepwise multiple regression analysis was performed to evaluate the relationship between bite force and craniofacial morphology while correlation analysis was used to evaluate the antero-posterior position of the OLC related to craniofacial morphology. Fifty-five per cent of the bite force could be explained by variations in the posterior facial height, gonial angle, antero-posterior size of the maxilla, and posterior length of the cranial base. The result showed a larger bite force implies a greater posterior facial height, smaller gonial angle, larger maxilla and straighter posterior length of the cranial base. This study suggests that among Indonesians, maximum bite force could be explained by craniofacial morphology as found in Caucasians. In addition, we proposed a clinical standard of the OLC for the comprehensive evaluation of occlusion.

  20. Craniofacial pain can be the sole prodromal symptom of an acute myocardial infarction: an interdisciplinary study.

    PubMed

    Kreiner, Marcelo; Álvarez, Ramón; Michelis, Virginia; Waldenström, Anders; Isberg, Annika

    2016-04-01

    We recently found craniofacial pain to be the sole symptom of an acute myocardial infarction (AMI) in 4% of patients. We hypothesized that this scenario is also true for symptoms of prodromal (pre-infarction) angina. We studied 326 consecutive patients who experienced myocardial ischemia. Intra-individual variability analyses with respect to ECG findings and pain characteristics were performed for those 150 patients who experienced at least one recurrent ischemic episode. AMI patients (n=113) were categorized into two subgroups: "abrupt onset" (n=81) and "prodromal angina" (n=32). Age, gender and risk factor comparisons were performed between groups. Craniofacial pain constituted the sole prodromal symptom of an AMI in 5% of patients. In those who experienced two ischemic episodes, women were more likely than men to experience craniofacial pain in both episodes (p<0.01). There was no statistically significant difference between episodes regarding either ECG findings or the use of the two typical pain quality descriptors "pressure" and "burning". This study is to our knowledge the first to report that craniofacial pain can be the only symptom of a pre-infarction angina. Craniofacial pain constitutes the sole prodromal AMI symptom in one out of 20 AMI patients. Recognition of this atypical symptom presentation is low because research on prodromal AMI symptoms has to date studied only patients with chest pain. To avoid a potentially fatal misdiagnosis, awareness of this clinical presentation needs to be brought to the attention of clinicians, researchers and the general public.

  1. Customized Polymethyl Methacrylate Implants for the Reconstruction of Craniofacial Osseous Defects

    PubMed Central

    Fernandes da Silva, André Luis; Borba, Alexandre Meireles; Simão, Niverso Rodrigues; Pedro, Fábio Luis Miranda

    2014-01-01

    Craniofacial defects represent alterations in the anatomy and morphology of the cranial vault and the facial bones that potentially affect an individual's psychological and social well-being. Although a variety of techniques and restorative procedures have been described for the reconstruction of the affected area, polymethyl methacrylate (PMMA), a biocompatible and nondegradable acrylic resin-based implant, is the most widely used alloplastic material for such craniomaxillofacial reconstruction. The aim of this study was to describe a technique for aesthetic and functional preoperative customized reconstruction of craniofacial bone defects from a small series of patients offered by the Brazilian public health system. Three adult male patients attended consultation with chief complaints directly related to their individual craniofacial bone defects. With the aid of multislice computed tomography scans and subsequent fabrication of the three-dimensional craniofacial prototype, custom-made PMMA implants were fabricated preoperatively. Under general anesthesia, with access to the craniofacial defects with a coronal approach, the PMMA implants were adapted and fixated to the facial skeleton with titanium plates and screws. Postoperative evaluation demonstrated uneventful recovery and an excellent aesthetic result. Customized prefabricated PMMA implants manufactured over the rapid prototyping models proved to be effective and feasible. PMID:25093139

  2. Crude oil exposures reveal roles for intracellular calcium cycling in haddock craniofacial and cardiac development

    PubMed Central

    Sørhus, Elin; Incardona, John P.; Karlsen, Ørjan; Linbo, Tiffany; Sørensen, Lisbet; Nordtug, Trond; van der Meeren, Terje; Thorsen, Anders; Thorbjørnsen, Maja; Jentoft, Sissel; Edvardsen, Rolf B.; Meier, Sonnich

    2016-01-01

    Recent studies have shown that crude oil exposure affects cardiac development in fish by disrupting excitation-contraction (EC) coupling. We previously found that eggs of Atlantic haddock (Melanogrammus aeglefinus) bind dispersed oil droplets, potentially leading to more profound toxic effects from uptake of polycyclic aromatic hydrocarbons (PAHs). Using lower concentrations of dispersed crude oil (0.7–7 μg/L ∑PAH), here we exposed a broader range of developmental stages over both short and prolonged durations. We quantified effects on cardiac function and morphogenesis, characterized novel craniofacial defects, and examined the expression of genes encoding potential targets underlying cardiac and craniofacial defects. Because of oil droplet binding, a 24-hr exposure was sufficient to create severe cardiac and craniofacial abnormalities. The specific nature of the craniofacial abnormalities suggests that crude oil may target common craniofacial and cardiac precursor cells either directly or indirectly by affecting ion channels and intracellular calcium in particular. Furthermore, down-regulation of genes encoding specific components of the EC coupling machinery suggests that crude oil disrupts excitation-transcription coupling or normal feedback regulation of ion channels blocked by PAHs. These data support a unifying hypothesis whereby depletion of intracellular calcium pools by crude oil-derived PAHs disrupts several pathways critical for organogenesis in fish. PMID:27506155

  3. Radiation-induced craniofacial deformities: a new classification and management algorithm.

    PubMed

    Allam, Karam A; Lim, Alan A; Elsherbiny, Ahmed; Bradley, James P; Kawamoto, Henry K

    2013-08-01

    Little is written about the spectrum of late radiation-induced craniofacial abnormalities and the guidelines for treating these abnormalities. The clinical records of 13 patients (eight males and five females) who received childhood craniofacial radiation between birth and 11 years of age and who subsequently had reconstructive surgery were reviewed. Eleven patients had their irradiation at the age from 1 to 5 years. The other two patients received their treatment at a relatively older age (9 and 11 years). Their deformities ranged from isolated soft-tissue deficiency with no or minimal bony deficiency to cases having osseous deformities with or without soft-tissue deficiency but still the normal or near-normal craniofacial form can be obtained with surgical intervention and the outermost extreme of the deformity is the patients whose normal or near-normal craniofacial form and function cannot be regained even with much sophisticated surgeries. Our new classification is based on two factors: the tissue component of the deformity and the possibility of regaining a normal or near-normal craniofacial form and function with the planned surgical intervention. Based on this classification, a new treatment algorithm was created.

  4. Crude oil exposures reveal roles for intracellular calcium cycling in haddock craniofacial and cardiac development.

    PubMed

    Sørhus, Elin; Incardona, John P; Karlsen, Ørjan; Linbo, Tiffany; Sørensen, Lisbet; Nordtug, Trond; van der Meeren, Terje; Thorsen, Anders; Thorbjørnsen, Maja; Jentoft, Sissel; Edvardsen, Rolf B; Meier, Sonnich

    2016-08-10

    Recent studies have shown that crude oil exposure affects cardiac development in fish by disrupting excitation-contraction (EC) coupling. We previously found that eggs of Atlantic haddock (Melanogrammus aeglefinus) bind dispersed oil droplets, potentially leading to more profound toxic effects from uptake of polycyclic aromatic hydrocarbons (PAHs). Using lower concentrations of dispersed crude oil (0.7-7 μg/L ∑PAH), here we exposed a broader range of developmental stages over both short and prolonged durations. We quantified effects on cardiac function and morphogenesis, characterized novel craniofacial defects, and examined the expression of genes encoding potential targets underlying cardiac and craniofacial defects. Because of oil droplet binding, a 24-hr exposure was sufficient to create severe cardiac and craniofacial abnormalities. The specific nature of the craniofacial abnormalities suggests that crude oil may target common craniofacial and cardiac precursor cells either directly or indirectly by affecting ion channels and intracellular calcium in particular. Furthermore, down-regulation of genes encoding specific components of the EC coupling machinery suggests that crude oil disrupts excitation-transcription coupling or normal feedback regulation of ion channels blocked by PAHs. These data support a unifying hypothesis whereby depletion of intracellular calcium pools by crude oil-derived PAHs disrupts several pathways critical for organogenesis in fish.

  5. Crude oil exposures reveal roles for intracellular calcium cycling in haddock craniofacial and cardiac development

    NASA Astrophysics Data System (ADS)

    Sørhus, Elin; Incardona, John P.; Karlsen, Ørjan; Linbo, Tiffany; Sørensen, Lisbet; Nordtug, Trond; van der Meeren, Terje; Thorsen, Anders; Thorbjørnsen, Maja; Jentoft, Sissel; Edvardsen, Rolf B.; Meier, Sonnich

    2016-08-01

    Recent studies have shown that crude oil exposure affects cardiac development in fish by disrupting excitation-contraction (EC) coupling. We previously found that eggs of Atlantic haddock (Melanogrammus aeglefinus) bind dispersed oil droplets, potentially leading to more profound toxic effects from uptake of polycyclic aromatic hydrocarbons (PAHs). Using lower concentrations of dispersed crude oil (0.7–7 μg/L ∑PAH), here we exposed a broader range of developmental stages over both short and prolonged durations. We quantified effects on cardiac function and morphogenesis, characterized novel craniofacial defects, and examined the expression of genes encoding potential targets underlying cardiac and craniofacial defects. Because of oil droplet binding, a 24-hr exposure was sufficient to create severe cardiac and craniofacial abnormalities. The specific nature of the craniofacial abnormalities suggests that crude oil may target common craniofacial and cardiac precursor cells either directly or indirectly by affecting ion channels and intracellular calcium in particular. Furthermore, down-regulation of genes encoding specific components of the EC coupling machinery suggests that crude oil disrupts excitation-transcription coupling or normal feedback regulation of ion channels blocked by PAHs. These data support a unifying hypothesis whereby depletion of intracellular calcium pools by crude oil-derived PAHs disrupts several pathways critical for organogenesis in fish.

  6. Modularity of the Oral Jaws Is Linked to Repeated Changes in the Craniofacial Shape of African Cichlids

    PubMed Central

    Parsons, Kevin J.; Cooper, W. James; Albertson, R. Craig

    2011-01-01

    The African cichlids of the East-African rift-lakes provide one of the most dramatic examples of adaptive radiation known. It has long been thought that functional decoupling of the oral and pharyngeal jaws in cichlids has facilitated their explosive evolution. Recent research has also shown that craniofacial evolution from radiations in lakes Victoria, Malawi, and Tanganyika has occurred along a shared primary axis of shape divergence, whereby the preorbital region of the skull changes in a manner that is, relatively independent from other head regions. We predicted that the preorbital region would comprise a variational module and used an extensive dataset from each lake that allowed us to test this prediction using a model selection approach. Our findings supported the presence of a preorbital module across all lakes, within each lake, and for Malawi, within sand and rock-dwelling clades. However, while a preorbital module was consistently present, notable differences were also observed among groups. Of particular interest, a negative association between patterns of variational modularity was observed between the sand and rock-dwelling clades, a patter consistent with character displacement. These findings provide the basis for further experimental research involving the determination of the developmental and genetic bases of these patterns of modularity. PMID:21716745

  7. Cell replication in craniofacial periosteum: appositional vs. resorptive sites

    PubMed Central

    Ochareon, Pannee; Herring, Susan W

    2011-01-01

    The size and the shape of craniofacial bones results from periosteal activity, which can be either appositional or resorptive. The periosteum is often used as a source of graft material for osteogenesis, but differences in cellular makeup and proliferative capacity may render resorptive regions unsuitable for transplant. This study was undertaken to characterize the cells in appositional and resorptive periosteum, and to assess variation in proliferative activity. Young pigs (n = 9) were injected with bromodeoxyuridine to label replicating cells and killed 3 h later. The mandibular ramus, hard palate and zygomatic arch were examined for patterns of periosteal activity, and replicating cells were quantified in 16 appositional and eight resorptive regions. Sections were also reacted for markers of osteogenic (Runx2) and osteoclastic [CTR (calcitonin receptor), RANK, TRAP, CD14] lineage, and for an endothelial label (lectin). Replicating cells were often associated with the vasculature; most were unreactive for markers of differentiation. Although the fibrous layers of periosteum had fewer replicating cells per unit area than inner layers (P < 0.005), this was in part due to lower cellularity. Appositional periostea differed from resorptive periostea in having thicker fibrous layers (197 vs. 89 μm, P = 0.02) and higher replication density in the inner layers (606 vs. 329 labeled cells mm−2, P = 0.02). Osteoprogenitors were numerous in the inner layers of appositional but very scarce in resorptive periostea. Multinucleated osteoclasts were never seen in appositional regions, but mononuclear cells positive for osteoclastic lineage markers were plentiful, especially in the most rapidly growing areas. These cells appeared to be macrophages accompanying a growth rate so rapid as to resemble a response to trauma. In conclusion, appositional and resorptive periostea differ strikingly in morphology and cell content. Resorptive periosteum is a poor choice for osteogenic

  8. Clinical Application of Three-Dimensional Printing Technology in Craniofacial Plastic Surgery

    PubMed Central

    Kim, Namkug

    2015-01-01

    Three-dimensional (3D) printing has been particularly widely adopted in medical fields. Application of the 3D printing technique has even been extended to bio-cell printing for 3D tissue/organ development, the creation of scaffolds for tissue engineering, and actual clinical application for various medical parts. Of various medical fields, craniofacial plastic surgery is one of areas that pioneered the use of the 3D printing concept. Rapid prototype technology was introduced in the 1990s to medicine via computer-aided design, computer-aided manufacturing. To investigate the current status of 3D printing technology and its clinical application, a systematic review of the literature was conducted. In addition, the benefits and possibilities of the clinical application of 3D printing in craniofacial surgery are reviewed, based on personal experiences with more than 500 craniofacial cases conducted using 3D printing tactile prototype models. PMID:26015880

  9. Oral and Craniofacial Clinical Signs Associated to Genetic Conditions in Human Identification Part I: A Review

    PubMed Central

    Ayoub, Fouad; Aoun, Nicole; el Husseini, Hassan; Jassar, Houssam; Sayah, Fida; Salameh, Ziad

    2015-01-01

    Background: Forensic dentistry is one of the most reliable methods used in human identification when other technique as fingerprint, DNA, visual identification cannot be used. Genetic disorders have several manifestations that can target the intra-oral cavity, the cranio-facial area or any location in the human body. Materials and Methods: A literature search of the scientific database (Medline and Science Direct) for the years 1990 to 2014 was carried out to find out all the available papers that indicate oral, cranio-facial signs, genetic and human identification. Results: A table with 10 genetic conditions was described with oral and cranio-facial signs that can help forensic specialist in human identification. Conclusion: This review showed a correlation between genetics, facial and intra-oral signs that would help forensic ondontologist in the identification procedures. PMID:26028912

  10. 3D modeling, custom implants and its future perspectives in craniofacial surgery.

    PubMed

    Parthasarathy, Jayanthi

    2014-01-01

    Custom implants for the reconstruction of craniofacial defects have gained importance due to better performance over their generic counterparts. This is due to the precise adaptation to the region of implantation, reduced surgical times and better cosmesis. Application of 3D modeling in craniofacial surgery is changing the way surgeons are planning surgeries and graphic designers are designing custom implants. Advances in manufacturing processes and ushering of additive manufacturing for direct production of implants has eliminated the constraints of shape, size and internal structure and mechanical properties making it possible for the fabrication of implants that conform to the physical and mechanical requirements of the region of implantation. This article will review recent trends in 3D modeling and custom implants in craniofacial reconstruction.

  11. 3D modeling, custom implants and its future perspectives in craniofacial surgery

    PubMed Central

    Parthasarathy, Jayanthi

    2014-01-01

    Custom implants for the reconstruction of craniofacial defects have gained importance due to better performance over their generic counterparts. This is due to the precise adaptation to the region of implantation, reduced surgical times and better cosmesis. Application of 3D modeling in craniofacial surgery is changing the way surgeons are planning surgeries and graphic designers are designing custom implants. Advances in manufacturing processes and ushering of additive manufacturing for direct production of implants has eliminated the constraints of shape, size and internal structure and mechanical properties making it possible for the fabrication of implants that conform to the physical and mechanical requirements of the region of implantation. This article will review recent trends in 3D modeling and custom implants in craniofacial reconstruction. PMID:24987592

  12. Dental and Nondental Stem Cell Based Regeneration of the Craniofacial Region: A Tissue Based Approach

    PubMed Central

    Hughes, Declan; Song, Bing

    2016-01-01

    Craniofacial reconstruction may be a necessary treatment for those who have been affected by trauma, disease, or pathological developmental conditions. The use of stem cell therapy and tissue engineering shows massive potential as a future treatment modality. Currently in the literature, there is a wide variety of published experimental studies utilising the different stem cell types available and the plethora of available scaffold materials. This review investigates different stem cell sources and their unique characteristics to suggest an ideal cell source for regeneration of individual craniofacial tissues. At present, understanding and clinical applications of stem cell therapy remain in their infancy with numerous challenges to overcome. In spite of this, the field displays immense capacity and will no doubt be utilised in future clinical treatments of craniofacial regeneration. PMID:27143979

  13. Creation and implementation of standardised craniofacial views for the Institute Of Medical Illustrators National Guidelines.

    PubMed

    Rowe, Stephanie

    2013-12-01

    Vetter (1) states, "Standardisation is the key word in all discussions of clinical photography". As part of clinical photography standardised guidelines form an integral part of providing a basis to obtaining standardised images. The Institute of Medical Illustrators (IMI) provides sets of standardised guidelines that have been developed in consultation with relevant clinicians, providing theory and standardised images that are to be considered as guides to good clinical photography practice. At the time of the study there were no official standardised IMI guidelines for craniofacial photography, for this reason, the primary objective of this project was to produce a set of standardised craniofacial guidelines that could be utilised by other clinical photographers for guidance on taking craniofacial images. This paper describes the development, evaluation and implementation of the guidelines.

  14. Clinical application of three-dimensional printing technology in craniofacial plastic surgery.

    PubMed

    Choi, Jong Woo; Kim, Namkug

    2015-05-01

    Three-dimensional (3D) printing has been particularly widely adopted in medical fields. Application of the 3D printing technique has even been extended to bio-cell printing for 3D tissue/organ development, the creation of scaffolds for tissue engineering, and actual clinical application for various medical parts. Of various medical fields, craniofacial plastic surgery is one of areas that pioneered the use of the 3D printing concept. Rapid prototype technology was introduced in the 1990s to medicine via computer-aided design, computer-aided manufacturing. To investigate the current status of 3D printing technology and its clinical application, a systematic review of the literature was conducted. In addition, the benefits and possibilities of the clinical application of 3D printing in craniofacial surgery are reviewed, based on personal experiences with more than 500 craniofacial cases conducted using 3D printing tactile prototype models.

  15. Embryonic development of Python sebae - I: Staging criteria and macroscopic skeletal morphogenesis of the head and limbs.

    PubMed

    Boughner, Julia C; Buchtová, Marcela; Fu, Katherine; Diewert, Virginia; Hallgrímsson, Benedikt; Richman, Joy M

    2007-01-01

    This study explores the post-ovipositional craniofacial development of the African Rock Python (Python sebae). We first describe a staging system based on external characteristics and next use whole-mount skeletal staining supplemented with Computed tomography (CT) scanning to examine skeletal development. Our results show that python embryos are in early stages of organogenesis at the time of laying, with separate facial prominences and pharyngeal clefts still visible. Limb buds are also visible. By 11 days (stage 3), the chondrocranium is nearly fully formed; however, few intramembranous bones can be detected. One week later (stage 4), many of the intramembranous upper and lower jaw bones are visible but the calvaria are not present. Skeletal elements in the limbs also begin to form. Between stages 4 (day 18) and 7 (day 44), the complete set of intramembranous bones in the jaws and calvaria develops. Hindlimb development does not progress beyond stage 6 (33 days) and remains rudimentary throughout adult life. In contrast to other reptiles, there are two rows of teeth in the upper jaw. The outer tooth row is attached to the maxillary and premaxillary bones, whereas the inner row is attached to the pterygoid and palatine bones. Erupted teeth can be seen in whole-mount stage 10 specimens and are present in an unerupted, mineralized state at stage 7. Micro-CT analysis reveals that all the young membranous bones can be recognized even out of the context of the skull. These data demonstrate intrinsic patterning of the intramembranous bones, even though they form without a cartilaginous template. In addition, intramembranous bone morphology is established prior to muscle function, which can influence bone shape through differential force application. After careful staging, we conclude that python skeletal development occurs slowly enough to observe in good detail the early stages of craniofacial skeletogenesis. Thus, reptilian animal models will offer unique

  16. Cnbp ameliorates Treacher Collins Syndrome craniofacial anomalies through a pathway that involves redox-responsive genes

    PubMed Central

    de Peralta, Mauro S Porcel; Mouguelar, Valeria S; Sdrigotti, María Antonella; Ishiy, Felipe A A; Fanganiello, Roberto D; Passos-Bueno, Maria R; Coux, Gabriela; Calcaterra, Nora B

    2016-01-01

    Treacher Collins Syndrome (TCS) is a rare congenital disease (1:50 000 live births) characterized by craniofacial defects, including hypoplasia of facial bones, cleft palate and palpebral fissures. Over 90% of the cases are due to mutations in the TCOF1 gene, which codifies the nucleolar protein Treacle. Here we report a novel TCS-like zebrafish model displaying features that fully recapitulate the spectrum of craniofacial abnormalities observed in patients. As it was reported for a Tcof1+/− mouse model, Treacle depletion in zebrafish caused reduced rRNA transcription, stabilization of Tp53 and increased cell death in the cephalic region. An increase of ROS along with the overexpression of redox-responsive genes was detected; furthermore, treatment with antioxidants ameliorated the phenotypic defects of craniofacial anomalies in TCS-like larvae. On the other hand, Treacle depletion led to a lowering in the abundance of Cnbp, a protein required for proper craniofacial development. Tcof1 knockdown in transgenic zebrafish overexpressing cnbp resulted in barely affected craniofacial cartilage development, reinforcing the notion that Cnbp has a role in the pathogenesis of TCS. The cnbp overexpression rescued the TCS phenotype in a dose-dependent manner by a ROS-cytoprotective action that prevented the redox-responsive genes' upregulation but did not normalize the synthesis of rRNAs. Finally, a positive correlation between the expression of CNBP and TCOF1 in mesenchymal cells from both control and TCS subjects was found. Based on this, we suggest CNBP as an additional target for new alternative therapeutic treatments to reduce craniofacial defects not only in TCS but also in other neurocristopathies. PMID:27711076

  17. Cnbp ameliorates Treacher Collins Syndrome craniofacial anomalies through a pathway that involves redox-responsive genes.

    PubMed

    de Peralta, Mauro S Porcel; Mouguelar, Valeria S; Sdrigotti, María Antonella; Ishiy, Felipe A A; Fanganiello, Roberto D; Passos-Bueno, Maria R; Coux, Gabriela; Calcaterra, Nora B

    2016-10-06

    Treacher Collins Syndrome (TCS) is a rare congenital disease (1:50 000 live births) characterized by craniofacial defects, including hypoplasia of facial bones, cleft palate and palpebral fissures. Over 90% of the cases are due to mutations in the TCOF1 gene, which codifies the nucleolar protein Treacle. Here we report a novel TCS-like zebrafish model displaying features that fully recapitulate the spectrum of craniofacial abnormalities observed in patients. As it was reported for a Tcof1(+/-) mouse model, Treacle depletion in zebrafish caused reduced rRNA transcription, stabilization of Tp53 and increased cell death in the cephalic region. An increase of ROS along with the overexpression of redox-responsive genes was detected; furthermore, treatment with antioxidants ameliorated the phenotypic defects of craniofacial anomalies in TCS-like larvae. On the other hand, Treacle depletion led to a lowering in the abundance of Cnbp, a protein required for proper craniofacial development. Tcof1 knockdown in transgenic zebrafish overexpressing cnbp resulted in barely affected craniofacial cartilage development, reinforcing the notion that Cnbp has a role in the pathogenesis of TCS. The cnbp overexpression rescued the TCS phenotype in a dose-dependent manner by a ROS-cytoprotective action that prevented the redox-responsive genes' upregulation but did not normalize the synthesis of rRNAs. Finally, a positive correlation between the expression of CNBP and TCOF1 in mesenchymal cells from both control and TCS subjects was found. Based on this, we suggest CNBP as an additional target for new alternative therapeutic treatments to reduce craniofacial defects not only in TCS but also in other neurocristopathies.

  18. Imaging of skeletal muscle.

    PubMed

    Goodwin, Douglas W

    2011-05-01

    Various diagnostic imaging techniques such as sonography, computed tomography, scintigraphy, radiography, and magnetic resonance imaging (MRI) have made possible the noninvasive evaluation of skeletal muscle injury and disease. Although these different modalities have roles to play, MRI is especially sensitive in the diagnosis of muscle disorders and injury and has proved to be useful in determining the extent of disease, in directing interventions, and in monitoring the response to therapies. This article describes how magnetic resonance images are formed and how the signal intensities in T1- and T2-weighted images may be used for diagnosis of the above-mentioned conditions and injuries.

  19. The society for craniofacial genetics and developmental biology 39th annual meeting.

    PubMed

    Fish, Jennifer L; Albertson, Craig; Harris, Matthew P; Lozanoff, Scott; Marcucio, Ralph S; Richtsmeier, Joan T; Trainor, Paul A

    2017-04-01

    The Society for Craniofacial Genetics and Developmental Biology (SCGDB) aims to promote education, research, and communication, about normal and abnormal development of the tissues and organs of the head. Membership of the SCGDB is broad and diverse-including clinicians, orthodontists, scientists, and academics-but with all members sharing an interest in craniofacial biology. Each year, the SCGDB hosts a meeting where members can share their latest research, exchange ideas and resources, and build on or establish new collaborations. © 2017 Wiley Periodicals, Inc.

  20. Dental and craniofacial characteristics in a patient with Hutchinson-Gilford progeria syndrome.

    PubMed

    Reichert, Christoph; Gölz, Lina; Götz, Werner; Wolf, Michael; Deschner, James; Jäger, Andreas

    2014-07-01

    The Hutchinson-Gilford progeria syndrome (HGPS) is an exceptionally rare medical disorder caused by mutations in the lamin A/C gene. Affected patients display typical features of premature aging. Beside general medical disorders, these patients have several specific features related to the craniofacial phenotype and the oral cavity. In this article, the dental and craniofacial characteristics of a 9-year-old girl with HGPS are presented. It is the first report addressing orthodontic tooth movement and microbiological features in a HGPS patient. We describe and discuss pathologic findings and provide a detailed histology of the teeth which had to be extracted during initial treatment.

  1. Heritability of Craniofacial Structures in Normal Subjects and Patients with Sleep Apnea

    PubMed Central

    Chi, Luqi; Comyn, Francois-Louis; Keenan, Brendan T.; Cater, Jacqueline; Maislin, Greg; Pack, Allan I.; Schwab, Richard J.

    2014-01-01

    Objectives: Accumulating evidence has shown that there is a genetic contribution to obstructive sleep apnea (OSA).The objectives were to use magnetic resonance imaging (MRI) cephalometry to (1) confirm heritability of craniofacial risk factors for OSA previously shown by cephalometrics; and (2) examine the heritability of new craniofacial structures that are measurable with MRI. Design: A sib pair “quad” design examining apneics, apneic siblings, controls, and control siblings. The study design used exact matching on ethnicity and sex, frequency matching on age, and statistical control for differences in age, sex, ethnicity, height, and weight. Setting: Academic medical center. Patients: We examined 55 apneic probands (apnea-hypopnea index [AHI]: 46.8 ± 33.5 events/h), 55 proband siblings (AHI: 11.1 ± 15.9 events/h), 55 controls (AHI: 2.2 ± 1.7 events/h), and 55 control siblings (AHI: 4.1 ± 4.0 events/h). Interventions: N/A. Measurements and Results: Five independent domains reflecting different aspects of the craniofacial structure were examined. We confirmed heritability of sella–nasion–subspinale (38%, P = 0.002), saddle angle (55%, P < 0.0001), mandibular length (24%, P = 0.02) and lower facial height (33%, P = 0.006) previously measured by cephalometry. In addition, the current study added new insights by demonstrating significant heritability of mandibular width (30%, P = 0.005), maxillary width (47%, P < 0.0001), distance from the hyoid bone to the retropogonion (36%, P = 0.0018) and size of the oropharyngeal space (31%, P = 0.004). Finally, our data indicate that heritability of the craniofacial structures is similar in normal patients and those with apnea. Conclusions: The data support our a priori hypothesis that the craniofacial structures that have been associated with obstructive sleep apnea (OSA) are heritable. We have demonstrated heritability for several intermediate craniofacial phenotypes for OSA. Thus, we believe that future studies

  2. A Critical Role of TRPM7 As an Ion Channel Protein in Mediating the Mineralization of the Craniofacial Hard Tissues

    PubMed Central

    Nakano, Yukiko; Le, Michael H.; Abduweli, Dawud; Ho, Sunita P.; Ryazanova, Lillia V.; Hu, Zhixian; Ryazanov, Alexey G.; Den Besten, Pamela K.; Zhang, Yan

    2016-01-01

    Magnesium ion (Mg2+) is the fourth most common cation in the human body, and has a crucial role in many physiological functions. Mg2+ homeostasis is an important contributor to bone development, however, its roles in the development of dental mineralized tissues have not yet been well known. We identified that transient receptor potential cation channel, subfamily M, member 7 (TRPM7), was significantly upregulated in the mature ameloblasts as compared to other ameloblasts through our whole transcript microarray analyses of the ameloblasts. TRPM7, an ion channel for divalent metal cations with an intrinsic serine/threonine protein kinase activity, has been characterized as a key regulator of whole body Mg2+ homeostasis. Semi-quantitative PCR and immunostaining for TRMP7 confirmed its upregulation during the maturation stage of enamel formation, at which ameloblasts direct rapid mineralization of the enamel matrix. The significantly hypomineralized craniofacial structures, including incisors, molars, and cranial bones were demonstrated by microCT analysis, von Kossa and trichrome staining in Trpm7Δkinase∕+ mice. A previously generated heterozygous mouse model with the deletion of the TRPM7 kinase domain. Interestingly, the skeletal phenotype of Trpm7Δkinase∕+ mice resembled those found in the tissue-nonspecific alkaline phosphatase (Alpl) KO mice, thus we further examined whether ALPL protein content and alkaline phosphatase (ALPase) activity in ameloblasts, odontoblasts and osteoblasts were affected in those mice. While ALPL protein in Trpm7Δkinase∕+ mice remained at the similar level as that in wt mice, ALPase activities in the Trpm7Δkinase∕+ mice were almost nonexistent. Supplemented magnesium successfully rescued the activities of ALPase in ameloblasts, odontoblasts and osteoblasts of Trpm7Δkinase∕+ mice. These results suggested that TRPM7 is essential for mineralization of enamel as well as dentin and bone by providing sufficient Mg2+ for the ALPL

  3. A partial skeletal proteome of the brittle star Ophiocoma wendtii

    NASA Astrophysics Data System (ADS)

    Seaver, Ryan W.

    The formation of mineralized tissue was critical to the evolution and diversification of metazoans and remains functionally significant in most animal lineages. Of special importance is the protein found occluded within the mineral matrix, which facilitates the process of biomineralization and modulates the final mineral structure. These skeletal matrix proteins have well been described in several species, including the sea urchin Stronglyocentrotus purpuratus, an important model organism. Biomineralization research is limited in other echinoderm classes. This research encompasses the first description of mineral matrix proteins in a member of the echinoderm class Ophiuroidea. This work describes the skeletal matrix proteins of the brittle star Ophiocoma wendtii using bioinformatic and proteomic techniques. General characteristics of matrix protein are described and a number of candidate biomineralization related genes have been identified, cloned, and sequenced. The unique evolutionary and biochemical properties of brittle star skeletal matrix proteins are also described.

  4. Recording skeletal completeness: A standardised approach.

    PubMed

    Rowbotham, Samantha K; Blau, Soren; Hislop-Jambrich, Jacqueline

    2017-03-08

    Recording the preservation of human skeletal remains is the foundation of osteological analyses for forensic and archaeological skeletal material. Methods for recording the skeletal completeness, one of the components of skeletal preservation documentation, are however currently non-standardised and subjective. To provide practitioners with a scientific means to accurately quantify skeletal completeness in an adult skeleton, percentage values for each skeletal element have been established. Using computed tomography (CT) volume rendering applications and post-mortem CT skeletal data for one adult individual, the percentage value for each bone relative to the complete skeleton was calculated based on volume. Percentage values for skeletal elements ranged from 0.01% (select hand and foot bones) to 8.43% (femur). Visual and written mediums detailing individual skeletal percentages have been provided as user-friendly reference sources. Calculating the percentage of skeletal remains available for analysis provides practitioners with a means to scientifically and objectively record skeletal completeness.

  5. Variation in dental and skeletal open bite malocclusion in humans with amelogenesis imperfecta.

    PubMed

    Ravassipour, Darren B; Powell, Cynthia M; Phillips, Ceib L; Hart, P Suzanne; Hart, Thomas C; Boyd, Courtney; Wright, J Tim

    2005-07-01

    The amelogenesis imperfectas (AI) are a diverse group of genetic disorders primarily affecting the quality and or quantity of enamel, however, affected individuals often have an open bite malocclusion. Three main AI types are recognized based on the perceived developmental mechanisms involved and the enamel phenotype. The purpose of this investigation was to evaluate the association of the AI enamel defect with craniofacial features characteristic of an open bite malocclusion. The sample consisted of 54 AI affected and 34 unaffected family members from 18 different kindreds. Lateral cephalograms were digitized and measurements evaluated for vertical plane alterations using Z-scores. Forty two percent of AI affected individuals and 12% of unaffected family members had dental or skeletal open bite malocclusions. Skeletal open bite malocclusion was variably expressed in AI affected individuals. The enamel phenotype severity did not necessarily correspond with the presence or severity of open bite malocclussion. Open bite malocclusion occurred in individuals with AI caused by mutations in the AMELX and ENAM genes even though these genes are considered to be predominantly or exclusively expressed in teeth. Affected AI individuals with cephalometric values meeting our criteria of skeletal open bite malocclusion were observed in all three major AI types. The pathophysiological relationship between AI associated enamel defects and open bite malocclusion remains unknown.

  6. Histone Deacetylases in Bone Development and Skeletal Disorders

    PubMed Central

    Bradley, Elizabeth W.; Carpio, Lomeli R.; van Wijnen, Andre J.; McGee-Lawrence, Meghan E.; Westendorf, Jennifer J.

    2015-01-01

    Histone deacetylases (Hdacs) are conserved enzymes that remove acetyl groups from lysine side chains in histones and other proteins. Eleven of the 18 Hdacs encoded by the human and mouse genomes depend on Zn2+ for enzymatic activity, while the other 7, the sirtuins (Sirts), require NAD2+. Collectively, Hdacs and Sirts regulate numerous cellular and mitochondrial processes including gene transcription, DNA repair, protein stability, cytoskeletal dynamics, and signaling pathways to affect both development and aging. Of clinical relevance, Hdacs inhibitors are United States Food and Drug Administration-approved cancer therapeutics and are candidate therapies for other common diseases including arthritis, diabetes, epilepsy, heart disease, HIV infection, neurodegeneration, and numerous aging-related disorders. Hdacs and Sirts influence skeletal development, maintenance of mineral density and bone strength by affecting intramembranous and endochondral ossification, as well as bone resorption. With few exceptions, inhibition of Hdac or Sirt activity though either loss-of-function mutations or prolonged chemical inhibition has negative and/or toxic effects on skeletal development and bone mineral density. Specifically, Hdac/Sirt suppression causes abnormalities in physiological development such as craniofacial dimorphisms, short stature, and bone fragility that are associated with several human syndromes or diseases. In contrast, activation of Sirts may protect the skeleton from aging and immobilization-related bone loss. This knowledge may prolong healthspan and prevent adverse events caused by epigenetic therapies that are entering the clinical realm at an unprecedented rate. In this review, we summarize the general properties of Hdacs/Sirts and the research that has revealed their essential functions in bone forming cells (e.g., osteoblasts and chondrocytes) and bone resorbing osteoclasts. Finally, we offer predictions on future research in this area and the utility of

  7. 75 FR 82033 - National Institute of Dental and Craniofacial Research; Notice of Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-12-29

    ... Advisory Dental and Craniofacial Research Council. The meeting will be open to the public as indicated..., 2011. Open: 8:30 a.m. to 11:30 a.m. Agenda: Report to the Director, NIDCR. Place: National Institutes...-32746 Filed 12-28-10; 8:45 am] BILLING CODE 4140-01-P...

  8. A tissue-specific role for intraflagellar transport genes during craniofacial development

    PubMed Central

    Williams, Trevor J.; Snedeker, John; Brugmann, Samantha A.

    2017-01-01

    Primary cilia are nearly ubiquitous, cellular projections that function to transduce molecular signals during development. Loss of functional primary cilia has a particularly profound effect on the developing craniofacial complex, causing several anomalies including craniosynostosis, micrognathia, midfacial dysplasia, cleft lip/palate and oral/dental defects. Development of the craniofacial complex is an intricate process that requires interactions between several different tissues including neural crest cells, neuroectoderm and surface ectoderm. To understand the tissue-specific requirements for primary cilia during craniofacial development we conditionally deleted three separate intraflagellar transport genes, Kif3a, Ift88 and Ttc21b with three distinct drivers, Wnt1-Cre, Crect and AP2-Cre which drive recombination in neural crest, surface ectoderm alone, and neural crest, surface ectoderm and neuroectoderm, respectively. We found that tissue-specific conditional loss of ciliary genes with different functions produces profoundly different facial phenotypes. Furthermore, analysis of basic cellular behaviors in these mutants suggests that loss of primary cilia in a distinct tissue has unique effects on development of adjacent tissues. Together, these data suggest specific spatiotemporal roles for intraflagellar transport genes and the primary cilium during craniofacial development. PMID:28346501

  9. 45,X/46,XX karyotype mitigates the aberrant craniofacial morphology in Turner syndrome.

    PubMed

    Rizell, Sara; Barrenäs, Marie-Louise; Andlin-Sobocki, Anna; Stecksén-Blicks, Christina; Kjellberg, Heidrun

    2013-08-01

    The aim of this project was to study the impact on craniofacial morphology from Turner syndrome (TS) karyotype, number of intact X chromosomal p-arms, and age as well as to compare craniofacial morphology in TS with healthy females. Lateral radiographs from 108 females with TS, ranging from 5.4 to 61.6 years, were analysed. The TS females were divided into four karyotype groups: 1. monosomy (45,X), 2. mosaic (45,X/46,XX), 3. isochromosome, and 4. other, as well as according to the number of intact X chromosomal p-arms. The karyotype was found to have an impact on craniofacial growth, where the mosaic group, with presence of 46,XX cell lines, seems to exhibit less mandibular retrognathism as well as fewer statistically significant differences compared to the reference group than the 45,X karyotype. Isochromosomes had more significant differences versus the reference group than 45,X/46,XX but fewer than 45,X. To our knowledge, this is the first time the 45,X/46,XX and isochromosome karyotypes are divided into separate groups studying craniofacial morphology. Impact from p-arm was found on both maxillary and mandibular length. Compared to healthy females, TS expressed a shorter posterior and flattened cranial base, retrognathic, short and posteriorly rotated maxilla and mandible, increased height of ramus, and relatively shorter posterior facial height. The impact of age was found mainly on mandibular morphology since mandibular retrognathism and length were more discrepant in older TS females than younger.

  10. Current and emerging basic science concepts in bone biology: implications in craniofacial surgery.

    PubMed

    Oppenheimer, Adam J; Mesa, John; Buchman, Steven R

    2012-01-01

    Ongoing research in bone biology has brought cutting-edge technologies into everyday use in craniofacial surgery. Nonetheless, when osseous defects of the craniomaxillofacial skeleton are encountered, autogenous bone grafting remains the criterion standard for reconstruction. Accordingly, the core principles of bone graft physiology continue to be of paramount importance. Bone grafts, however, are not a panacea; donor site morbidity and operative risk are among the limitations of autologous bone graft harvest. Bone graft survival is impaired when irradiation, contamination, and impaired vascularity are encountered. Although the dura can induce calvarial ossification in children younger than 2 years, the repair of critical-size defects in the pediatric population may be hindered by inadequate bone graft donor volume. The novel and emerging field of bone tissue engineering holds great promise as a limitless source of autogenous bone. Three core constituents of bone tissue engineering have been established: scaffolds, signals, and cells. Blood supply is the sine qua non of these components, which are used both individually and concertedly in regenerative craniofacial surgery. The discerning craniofacial surgeon must determine the proper use for these bone graft alternatives, while understanding their concomitant risks. This article presents a review of contemporary and emerging concepts in bone biology and their implications in craniofacial surgery. Current practices, areas of controversy, and near-term future applications are emphasized.

  11. The Importance of Craniofacial Sutures in Biomechanical Finite Element Models of the Domestic Pig

    PubMed Central

    Bright, Jen A.

    2012-01-01

    Craniofacial sutures are a ubiquitous feature of the vertebrate skull. Previous experimental work has shown that bone strain magnitudes and orientations often vary when moving from one bone to another, across a craniofacial suture. This has led to the hypothesis that craniofacial sutures act to modify the strain environment of the skull, possibly as a mode of dissipating high stresses generated during feeding or impact. This study tests the hypothesis that the introduction of craniofacial sutures into finite element (FE) models of a modern domestic pig skull would improve model accuracy compared to a model without sutures. This allowed the mechanical effects of sutures to be assessed in isolation from other confounding variables. These models were also validated against strain gauge data collected from the same specimen ex vivo. The experimental strain data showed notable strain differences between adjacent bones, but this effect was generally not observed in either model. It was found that the inclusion of sutures in finite element models affected strain magnitudes, ratios, orientations and contour patterns, yet contrary to expectations, this did not improve the fit of the model to the experimental data, but resulted in a model that was less accurate. It is demonstrated that the presence or absence of sutures alone is not responsible for the inaccuracies in model strain, and is suggested that variations in local bone material properties, which were not accounted for by the FE models, could instead be responsible for the pattern of results. PMID:22363727

  12. G-Protein α-Subunit Gsα Is Required for Craniofacial Morphogenesis

    PubMed Central

    Wei, Yanxia; Chen, Min; Weinstein, Lee S.; Hong, Yang; Zhu, Minyan; Li, Hongchang; Li, Huashun

    2016-01-01

    The heterotrimeric G protein subunit Gsα couples receptors to activate adenylyl cyclase and is required for the intracellular cAMP response and protein kinase A (PKA) activation. Gsα is ubiquitously expressed in many cell types; however, the role of Gsα in neural crest cells (NCCs) remains unclear. Here we report that NCCs-specific Gsα knockout mice die within hours after birth and exhibit dramatic craniofacial malformations, including hypoplastic maxilla and mandible, cleft palate and craniofacial skeleton defects. Histological and anatomical analysis reveal that the cleft palate in Gsα knockout mice is a secondary defect resulting from craniofacial skeleton deficiencies. In Gsα knockout mice, the morphologies of NCCs-derived cranial nerves are normal, but the development of dorsal root and sympathetic ganglia are impaired. Furthermore, loss of Gsα in NCCs does not affect cranial NCCs migration or cell proliferation, but significantly accelerate osteochondrogenic differentiation. Taken together, our study suggests that Gsα is required for neural crest cells-derived craniofacial development. PMID:26859889

  13. The FaceBase Consortium: a comprehensive resource for craniofacial researchers.

    PubMed

    Brinkley, James F; Fisher, Shannon; Harris, Matthew P; Holmes, Greg; Hooper, Joan E; Jabs, Ethylin Wang; Jones, Kenneth L; Kesselman, Carl; Klein, Ophir D; Maas, Richard L; Marazita, Mary L; Selleri, Licia; Spritz, Richard A; van Bakel, Harm; Visel, Axel; Williams, Trevor J; Wysocka, Joanna; Chai, Yang

    2016-07-15

    The FaceBase Consortium, funded by the National Institute of Dental and Craniofacial Research, National Institutes of Health, is designed to accelerate understanding of craniofacial developmental biology by generating comprehensive data resources to empower the research community, exploring high-throughput technology, fostering new scientific collaborations among researchers and human/computer interactions, facilitating hypothesis-driven research and translating science into improved health care to benefit patients. The resources generated by the FaceBase projects include a number of dynamic imaging modalities, genome-wide association studies, software tools for analyzing human facial abnormalities, detailed phenotyping, anatomical and molecular atlases, global and specific gene expression patterns, and transcriptional profiling over the course of embryonic and postnatal development in animal models and humans. The integrated data visualization tools, faceted search infrastructure, and curation provided by the FaceBase Hub offer flexible and intuitive ways to interact with these multidisciplinary data. In parallel, the datasets also offer unique opportunities for new collaborations and training for researchers coming into the field of craniofacial studies. Here, we highlight the focus of each spoke project and the integration of datasets contributed by the spokes to facilitate craniofacial research.

  14. The influence of craniofacial to standing height proportion on perceived attractiveness.

    PubMed

    Naini, F B; Cobourne, M T; McDonald, F; Donaldson, A N A

    2008-10-01

    An idealised male image, based on Vitruvian Man, was created. The craniofacial height was altered from a proportion of 1/6 to 1/10 of standing height, creating 10 images shown in random order to 89 observers (74 lay people; 15 clinicians), who ranked the images from the most to the least attractive. The main outcome was the preference ranks of image attractiveness given by the observers. Linear regressions were used to assess what influences the choice for the most and the least attractive images, followed by a multivariate rank ordinal logistic regression to test the influence of age, gender, ethnicity and professional status of the observer. A craniofacial height to standing height proportion of 1/7.5 was perceived as the most attractive (36%), followed by a proportion of 1/8 (26%). The images chosen as most attractive by more than 10% of observers had a mean proportion of 1/7.8(min=1/7; max=1/8.5). The images perceived as most unattractive had a proportion of 1/6 and 1/10. The choice of images was not influenced by the age, gender, ethnicity or professional status of the observers. The ideal craniofacial height to standing height proportion is in the range 1/7 to 1/8.5. This finding should be considered when planning treatment to alter craniofacial or facial height.

  15. The FaceBase Consortium: a comprehensive resource for craniofacial researchers

    PubMed Central

    Brinkley, James F.; Fisher, Shannon; Harris, Matthew P.; Holmes, Greg; Hooper, Joan E.; Wang Jabs, Ethylin; Jones, Kenneth L.; Kesselman, Carl; Klein, Ophir D.; Maas, Richard L.; Marazita, Mary L.; Selleri, Licia; Spritz, Richard A.; van Bakel, Harm; Visel, Axel; Williams, Trevor J.; Wysocka, Joanna

    2016-01-01

    The FaceBase Consortium, funded by the National Institute of Dental and Craniofacial Research, National Institutes of Health, is designed to accelerate understanding of craniofacial developmental biology by generating comprehensive data resources to empower the research community, exploring high-throughput technology, fostering new scientific collaborations among researchers and human/computer interactions, facilitating hypothesis-driven research and translating science into improved health care to benefit patients. The resources generated by the FaceBase projects include a number of dynamic imaging modalities, genome-wide association studies, software tools for analyzing human facial abnormalities, detailed phenotyping, anatomical and molecular atlases, global and specific gene expression patterns, and transcriptional profiling over the course of embryonic and postnatal development in animal models and humans. The integrated data visualization tools, faceted search infrastructure, and curation provided by the FaceBase Hub offer flexible and intuitive ways to interact with these multidisciplinary data. In parallel, the datasets also offer unique opportunities for new collaborations and training for researchers coming into the field of craniofacial studies. Here, we highlight the focus of each spoke project and the integration of datasets contributed by the spokes to facilitate craniofacial research. PMID:27287806

  16. Mechanotransduction in skeletal muscle

    PubMed Central

    Burkholder, Thomas J.

    2007-01-01

    Mechanical signals are critical to the development and maintenance of skeletal muscle, but the mechanisms that convert these shape changes to biochemical signals is not known. When a deformation is imposed on a muscle, changes in cellular and molecular conformations link the mechanical forces with biochemical signals, and the close integration of mechanical signals with electrical, metabolic, and hormonal signaling may disguise the aspect of the response that is specific to the mechanical forces. The mechanically induced conformational change may directly activate downstream signaling and may trigger messenger systems to activate signaling indirectly. Major effectors of mechanotransduction include the ubiquitous mitogen activated protein kinase (MAP) and phosphatidylinositol-3’ kinase (PI-3K), which have well described receptor dependent cascades, but the chain of events leading from mechanical stimulation to biochemical cascade is not clear. This review will discuss the mechanics of biological deformation, loading of cellular and molecular structures, and some of the principal signaling mechanisms associated with mechanotransduction. PMID:17127292

  17. Genetics of murine craniofacial morphology: Diallel analysis of the eight founders of the Collaborative Cross

    PubMed Central

    Percival, Christopher J.; Liberton, Denise K.; de Villena, Fernando Pardo-Manuel; Spritz, Richard; Marcucio, Ralph

    2016-01-01

    Summary Using eight inbred founder strains of the mouse Collaborative Cross (CC) project and their reciprocal F1 hybrids, we quantified variation in craniofacial morphology across mouse strains, explored genetic contributions to craniofacial variation that distinguish the founder strains, and tested whether specific or summary measures of craniofacial shape display stronger additive genetic contributions. This study thus provides critical information about phenotypic diversity among CC founder strains and about the genetic contributions to this phenotypic diversity, which is relevant to understanding the basis of variation in standard laboratory strains and natural populations. Craniofacial shape was quantified as a series of size-adjusted linear dimensions (RDs) and by principal components (PC) analysis of morphological landmarks captured from computed tomography images from 62 out of the 64 reciprocal crosses of the CC founder strains. We first identified aspects of skull morphology that vary between these phenotypically ‘normal’ founder strains and that are defining characteristics of these strains. We estimated the contributions of additive and various non-additive genetic factors to phenotypic variation using diallel analyses of a subset of these strongly differing RDs and the first 8 PCs of skull shape variation. We find little difference in the genetic contributions to RD measures and PC scores, suggesting fundamental similarities in the magnitude of genetic contributions to both specific and summary measures of craniofacial phenotypes. Our results indicate that there are stronger additive genetic effects associated with defining phenotypic characteristics of specific founder strains, suggesting these distinguishing measures are good candidates for use in genotype-phenotype association studies of CC mice. Our results add significantly to understanding of genotype-phenotype associations in the skull, which serve as a foundation for modeling the origins of

  18. A regional method for craniofacial reconstruction based on coordinate adjustments and a new fusion strategy.

    PubMed

    Deng, Qingqiong; Zhou, Mingquan; Wu, Zhongke; Shui, Wuyang; Ji, Yuan; Wang, Xingce; Liu, Ching Yiu Jessica; Huang, Youliang; Jiang, Haiyan

    2016-02-01

    Craniofacial reconstruction recreates a facial outlook from the cranium based on the relationship between the face and the skull to assist identification. But craniofacial structures are very complex, and this relationship is not the same in different craniofacial regions. Several regional methods have recently been proposed, these methods segmented the face and skull into regions, and the relationship of each region is then learned independently, after that, facial regions for a given skull are estimated and finally glued together to generate a face. Most of these regional methods use vertex coordinates to represent the regions, and they define a uniform coordinate system for all of the regions. Consequently, the inconsistence in the positions of regions between different individuals is not eliminated before learning the relationships between the face and skull regions, and this reduces the accuracy of the craniofacial reconstruction. In order to solve this problem, an improved regional method is proposed in this paper involving two types of coordinate adjustments. One is the global coordinate adjustment performed on the skulls and faces with the purpose to eliminate the inconsistence of position and pose of the heads; the other is the local coordinate adjustment performed on the skull and face regions with the purpose to eliminate the inconsistence of position of these regions. After these two coordinate adjustments, partial least squares regression (PLSR) is used to estimate the relationship between the face region and the skull region. In order to obtain a more accurate reconstruction, a new fusion strategy is also proposed in the paper to maintain the reconstructed feature regions when gluing the facial regions together. This is based on the observation that the feature regions usually have less reconstruction errors compared to rest of the face. The results demonstrate that the coordinate adjustments and the new fusion strategy can significantly improve the

  19. Nested Levels of Adaptive Divergence: The Genetic Basis of Craniofacial Divergence and Ecological Sexual Dimorphism

    PubMed Central

    Parsons, Kevin J.; Wang, Jason; Anderson, Graeme; Albertson, R. Craig

    2015-01-01

    Exemplary systems for adaptive divergence are often characterized by their large degrees of phenotypic variation. This variation represents the outcome of generations of diversifying selection. However, adaptive radiations can also contain a hierarchy of differentiation nested within them where species display only subtle phenotypic differences that still have substantial effects on ecology, function, and ultimately fitness. Sexual dimorphisms are also common in species displaying adaptive divergence and can be the result of differential selection between sexes that produce ecological differences between sexes. Understanding the genetic basis of subtle variation (between certain species or sexes) is therefore important for understanding the process of adaptive divergence. Using cichlids from the dramatic adaptive radiation of Lake Malawi, we focus on understanding the genetic basis of two aspects of relatively subtle phenotypic variation. This included a morphometric comparison of the patterns of craniofacial divergence between two ecologically similar species in relation to the larger adaptive radiation of Malawi, and male–female morphological divergence between their F2 hybrids. We then genetically map craniofacial traits within the context of sex and locate several regions of the genome that contribute to variation in craniofacial shape that is relevant to sexual dimorphism within species and subtle divergence between closely related species, and possibly to craniofacial divergence in the Malawi radiation as a whole. To enhance our search for candidate genes we take advantage of population genomic data and a genetic map that is anchored to the cichlid genome to determine which genes within our QTL regions are associated with SNPs that are alternatively fixed between species. This study provides a holistic understanding of the genetic underpinnings of adaptive divergence in craniofacial shape. PMID:26038365

  20. Ellis Van Creveld2 is Required for Postnatal Craniofacial Bone Development.

    PubMed

    Badri, Mohammed K; Zhang, Honghao; Ohyama, Yoshio; Venkitapathi, Sundharamani; Kamiya, Nobuhiro; Takeda, Haruko; Ray, Manas; Scott, Greg; Tsuji, Takehito; Kunieda, Tetsuo; Mishina, Yuji; Mochida, Yoshiyuki

    2016-08-01

    Ellis-van Creveld (EvC) syndrome is a genetic disorder with mutations in either EVC or EVC2 gene. Previous case studies reported that EvC patients underwent orthodontic treatment, suggesting the presence of craniofacial bone phenotypes. To investigate whether a mutation in EVC2 gene causes a craniofacial bone phenotype, Evc2 knockout (KO) mice were generated and cephalometric analysis was performed. The heads of wild type (WT), heterozygous (Het) and homozygous Evc2 KO mice (1-, 3-, and 6-week-old) were prepared and cephalometric analysis based on the selected reference points on lateral X-ray radiographs was performed. The linear and angular bone measurements were then calculated, compared between WT, Het and KO and statistically analyzed at each time point. Our data showed that length of craniofacial bones in KO was significantly lowered by ∼20% to that of WT and Het, the growth of certain bones, including nasal bone, palatal length, and premaxilla was more affected in KO, and the reduction in these bone length was more significantly enhanced at later postnatal time points (3 and 6 weeks) than early time point (1 week). Furthermore, bone-to-bone relationship to cranial base and cranial vault in KO was remarkably changed, i.e. cranial vault and nasal bone were depressed and premaxilla and mandible were developed in a more ventral direction. Our study was the first to show the cause-effect relationship between Evc2 deficiency and craniofacial defects in EvC syndrome, demonstrating that Evc2 is required for craniofacial bone development and its deficiency leads to specific facial bone growth defect. Anat Rec, 299:1110-1120, 2016. © 2016 Wiley Periodicals, Inc.

  1. Craniofacial anomalies associated with hypospadias. Description of a hospital based population in South America

    PubMed Central

    Fernandez, Nicolas; Escobar, Rebeca; Zarante, Ignacio

    2016-01-01

    ABSTRACT Introduction: Hypospadias is a congenital abnormality of the penis, in which there is incomplete development of the distal urethra. There are numerous reports showing an increase of prevalence of hypospadias. Association of craniofacial malformations in patients diagnosed with hypospadias is rare. The aim of this study is to describe the association between hypospadias and craniofacial congenital anomalies. Materials and Methods: A retrospective review of the Latin-American collaborative study of congenital malformations (ECLAMC) data was performed between January 1982 and December 2011. We included children diagnosed with associated hypospadias and among them we selected those that were associated with any craniofacial congenital anomaly. Results: Global prevalence was 11.3 per 10.000 newborns. In this population a total of 809 patients with 1117 associated anomalies were identified. On average there were 1.7 anomalies per patient. Facial anomalies were present in 13.2%. The most commonly major facial anomaly associated to hypospadias was cleft lip/palate with 52 cases. We identified that 18% have an association with other anomalies, and found an association between craniofacial anomalies and hypospadias in 0.59 cases/10.000 newborns. Discussion: Hypospadias is the most common congenital anomaly affecting the genitals. Its association with other anomalies is rare. It has been reported that other malformations occur in 29.3% of the cases with hypospadias. The more proximal the meatus, the higher the risk for having another associated anomaly. Conclusion: Associated hypospadias are rare, and it is important to identify the concurrent occurrence of craniofacial anomalies to better treat patients that might need a multidisciplinary approach. PMID:27564292

  2. American Association of Orthodontists Foundation Craniofacial Growth Legacy Collection: Overview of a powerful tool for orthodontic research and teaching.

    PubMed

    Baumrind, Sheldon; Curry, Sean

    2015-08-01

    This article reports on the current status of the American Association of Orthodontists Foundation (AAOF) Craniofacial Growth Legacy Collection--an AAOF-supported multi-institutional project that uses the Internet and cloud computing to collect and share craniofacial images and data for orthodontic research and education. The project gives investigators and clinicians all over the world online access to longitudinal information on craniofacial development in untreated children with malocclusions of various types. It also is a unique source of control samples for testing the validity of consensually accepted beliefs about the effects of orthodontic treatment or of failure to treat.

  3. The ontogenetic trajectory of the phenotypic covariance matrix, with examples from craniofacial shape in rats and humans.

    PubMed

    Mitteroecker, Philipp; Bookstein, Fred

    2009-03-01

    Many classic quantitative genetic theories assume the covariance structure among adult phenotypic traits to be relatively static during evolution. But the cross-sectional covariance matrix arises from the joint variation of a large range of developmental processes and hence is not constant over the period during which a population of developing organisms is actually exposed to selection. To examine how development shapes the phenotypic covariance structure, we ordinate the age-specific covariance matrices of shape coordinates for craniofacial growth in rats and humans. The metric that we use for this purpose is given by the square root of the summed squared log relative eigenvalues. This is the natural metric on the space of positive-definite symmetric matrices, which we introduce and justify in a biometric context. In both species, the covariance matrices appear to change continually throughout the full period of postnatal development. The resulting ontogenetic trajectories alter their direction at major changes of the developmental programs whereas they are fairly straight in between. Consequently, phenotypic covariance matrices--and thus also response to selection--should be expected to vary both over ontogenetic and phylogenetic time scales as different phenotypes are necessarily produced by different developmental pathways.

  4. [Immobilization and skeletal system of the human body].

    PubMed

    Kisała, Aleksander; Pluskiewicz, Wojciech

    2015-01-01

    Shaping the process of evolution musculoskeletal and nervous systems in animals has allowed these organisms steady increase mobility and mastery of new environments to life. Movement is the essence of life and health. But health is not a permanent condition. Its absence often results in limited mobility of the body. The aim of this study is to assess the impact of immobilization on the state of the skeletal system and the evaluation of the effectiveness of various measures to reduce this impact.

  5. Aneuploidy and Skeletal Health

    PubMed Central

    Kamalakar, Archana; Harris, John R.; McKelvey, Kent D.; Suva, Larry J.

    2014-01-01

    The normal human chromosome complement consists of 46 chromosomes comprising 22 morphologically different pairs of autosomes and one pair of sex chromosomes. Variations in either chromosome number and/or structure frequently result in significant mental impairment, and/or a variety of other clinical problems, among them, altered bone mass and strength. Chromosomal syndromes associated with specific chromosomal abnormalities are classified as either numerical or structural and may involve more than one chromosome. Aneuploidy refers to the presence of an extra copy of a specific chromosome, or trisomy, as seen in Down’s syndrome (trisomy 21), or the absence of a single chromosome, or monosomy, as seen in Turner syndrome (a single X chromosome in females: 45, X). Aneuploidies have diverse phenotypic consequences, ranging from severe mental retardation and developmental abnormalities to increased susceptibility to various neoplasms and premature death. In fact, trisomy 21 is the prototypical aneuploidy in humans, is the most common genetic abnormality associated with longevity and is one of the most widespread genetic causes of intellectual disability. In this review, the impact of trisomy 21 on the bone mass, architecture, skeletal health and quality of life of people with Down syndrome will be discussed. PMID:24980541

  6. Correlation between Chronological Age, Dental Age and Skeletal Age among Monozygoyic and Dizygotic Twins

    PubMed Central

    Gupta, Mohit; Divyashree, R; Abhilash, PR; A Bijle, Mohammed Nadeem; Murali, KV

    2013-01-01

    Introduction: Chronological age, dental development, height and weight measurements, sexual maturation characteristics and skeletal age are some biological indicators that have been used to identify time of growth. Many researchers have agreed that skeletal maturity is closely related to the craniofacial growth, and bones of hand and wrist are reliable parameters in assessing it. The complete hand and wrist radiograph involves 30 bones and assessment of these bones is one elaborate task. The present study is therefore, undertaken to assess the correlation between the chronological age, dental age and skeletal ages among different types of twins. Materials and Methods: The study consisted of 60 subjects (30 twins) aged 8 to 16 years, divided into group of 10 monozygotic, 10 dizygotic and 10 mixed sex twins. The sample was selected from Twin Survey- 2008 conducted by Department of Orthodontics and Dentofacial Orthopaedics, Sree Balaji Dental College and Hospital, Chennai. Their zygosity was determined by sex, blood groups and by the parent. The chronological age was measured by the date of birth given by the parents. Panoramic and hand wrist x-rays were taken. Dental age was assessed by Demerjian et al method and skeletal age by Greulich and Pyle method. The correlation among twins in dental and skeletal ages with the chronological age was assessed using Correlation Coefficient and Student's't' Test. Results: The obtained data was fed into the computer and statistical analysis was done for the same using the SPSS version 10.0. Statistical significance was tested at P<0.05 level. Mean and Standard Deviation, Correlation Coefficient, Student's't' Test statistical methods were employed. The result showed highly significant 'p' value as <0.001 in all the correlations except for mixed pairs. Descriptive statistics in most of the areas demonstrated a non-significant result between zygosity groups. Conclusion: There is a correlation existing between the individual

  7. Glutamate and capsaicin effects on trigeminal nociception I: Activation and peripheral sensitization of deep craniofacial nociceptive afferents.

    PubMed

    Lam, David K; Sessle, Barry J; Hu, James W

    2009-01-28

    We have examined the effect of the peripheral application of glutamate and capsaicin to deep craniofacial tissues in influencing the activation and peripheral sensitization of deep craniofacial nociceptive afferents. The activity of single trigeminal nociceptive afferents with receptive fields in deep craniofacial tissues were recorded extracellularly in 55 halothane-anesthetized rats. The mechanical activation threshold (MAT) of each afferent was assessed before and after injection of 0.5 M glutamate (or vehicle) and 1% capsaicin (or vehicle) into the receptive field. A total of 68 afferents that could be activated by blunt noxious mechanical stimulation of the deep craniofacial tissues (23 masseter, 5 temporalis, 40 temporomandibular joint) were studied. When injected alone, glutamate and capsaicin activated and induced peripheral sensitization reflected as MAT reduction in many afferents. Following glutamate injection, capsaicin-evoked activity was greater than that evoked by capsaicin alone, whereas following capsaicin injection, glutamate-evoked responses were similar to glutamate alone. These findings indicate that peripheral application of glutamate or capsaicin may activate or induce peripheral sensitization in a subpopulation of trigeminal nociceptive afferents innervating deep craniofacial tissues, as reflected in changes in MAT and other afferent response properties. The data further suggest that peripheral glutamate and capsaicin receptor mechanisms may interact to modulate the activation and peripheral sensitization in some deep craniofacial nociceptive afferents.

  8. Dental Approach to Craniofacial Syndromes: How Can Developmental Fields Show Us a New Way to Understand Pathogenesis?

    PubMed Central

    Kjær, Inger

    2012-01-01

    The paper consists of three parts. Part 1: Definition of Syndromes. Focus is given to craniofacial syndromes in which abnormal traits in the dentition are associated symptoms. In the last decade, research has concentrated on phenotype, genotype, growth, development, function, and treatment. Part 2: Syndromes before Birth. How can the initial malformation sites in these syndromes be studied and what can we learn from it? In this section, deviations observed in syndromes prenatally will be highlighted and compared to the normal human embryological craniofacial development. Specific focus will be given to developmental fields studied on animal tissue and transferred to human cranial development. Part 3: Developmental Fields Affected in Two Craniofacial Syndromes. Analysis of primary and permanent dentitions can determine whether a syndrome affects a single craniofacial field or several fields. This distinction is essential for insight into craniofacial syndromes. The dentition, thus, becomes central in diagnostics and evaluation of the pathogenesis. Developmental fields can explore and advance the concept of dental approaches to craniofacial syndromes. Discussion. As deviations in teeth persist and do not reorganize during growth and development, the dentition is considered useful for distinguishing between syndrome pathogenesis manifested in a single developmental field and in several fields. PMID:23091490

  9. Mechanobiology of skeletal regeneration.

    PubMed

    Carter, D R; Beaupré, G S; Giori, N J; Helms, J A

    1998-10-01

    Skeletal regeneration is accomplished by a cascade of biologic processes that may include differentiation of pluripotential tissue, endochondral ossification, and bone remodeling. It has been shown that all these processes are influenced strongly by the local tissue mechanical loading history. This article reviews some of the mechanobiologic principles that are thought to guide the differentiation of mesenchymal tissue into bone, cartilage, or fibrous tissue during the initial phase of regeneration. Cyclic motion and the associated shear stresses cause cell proliferation and the production of a large callus in the early phases of fracture healing. For intermittently imposed loading in the regenerating tissue: (1) direct intramembranous bone formation is permitted in areas of low stress and strain; (2) low to moderate magnitudes of tensile strain and hydrostatic tensile stress may stimulate intramembranous ossification; (3) poor vascularity can promote chondrogenesis in an otherwise osteogenic environment; (4) hydrostatic compressive stress is a stimulus for chondrogenesis; (5) high tensile strain is a stimulus for the net production of fibrous tissue; and (6) tensile strain with a superimposed hydrostatic compressive stress will stimulate the development of fibrocartilage. Finite element models are used to show that the patterns of tissue differentiation observed in fracture healing and distraction osteogenesis can be predicted from these fundamental mechanobiologic concepts. In areas of cartilage formation, subsequent endochondral ossification normally will proceed, but it can be inhibited by intermittent hydrostatic compressive stress and accelerated by octahedral shear stress (or strain). Later, bone remodeling at these sites can be expected to follow the same mechanobiologic adaptation rules as normal bone.

  10. Midsagittal surface measurement of the head: an assessment of craniofacial asymmetry

    NASA Astrophysics Data System (ADS)

    Christensen, Gary E.; Johnson, Hans J.; Darvann, Tron; Hermann, Nuno; Marsh, Jeffrey L.

    1999-05-01

    Left/right craniofacial asymmetry is typically measured by comparing distances between standard anatomical landmarks. However, these measurements are of limited use for visualizing and quantifying the asymmetry at non-landmark locations. This work presents a method for calculating, measuring and visualizing the planar deviation of the midsagittal surface for the purpose of craniofacial dysmorphology assessment, pre-operative corrective surgery planning, and post-operative evaluation. A set of midsagittal landmarks are used to define a reference midsagittal plane and to define a non-planar surface that passes through the landmarks. The surface is modeled as a thin-plate spline that can be visualized in 3D using a virtual reality markup language browser and it can be fused with the original volume rendered CT data using VoxelViewTM.

  11. Patients seeking treatment for craniofacial pain: a retrospective study of 300 patients.

    PubMed

    Shankland, Wesley E

    2008-10-01

    Those engaged in any type of pain practice will encounter patients who have seen many practitioners. This is especially true for clinicians who treat craniofacial pain and temporomandibular disorders. In this retrospective study of 300 patients seeking treatment for various types of craniofacial pain, the average age was 43.05 years. A mean average of 3.92 clinicians was consulted with the range of practitioners being one to 26. The average time of pain was 4.15 years. Most of the subjects (210) were in the age groups 21 years to 60 years old. Females comprised 85.30% of the subjects with a mean average age of 43.43 years; 14.70% were male with a mean average age of 41.02 years.

  12. Dry needling for management of pain in the upper quarter and craniofacial region.

    PubMed

    Kietrys, David M; Palombaro, Kerstin M; Mannheimer, Jeffrey S

    2014-01-01

    Dry needling is a therapeutic intervention that has been growing in popularity. It is primarily used with patients that have pain of myofascial origin. This review provides background about dry needling, myofascial pain, and craniofacial pain. We summarize the evidence regarding the effectiveness of dry needling. For patients with upper quarter myofascial pain, a 2013 systematic review and meta-analysis of 12 randomized controlled studies reported that dry needling is effective in reducing pain (especially immediately after treatment) in patients with upper quarter pain. There have been fewer studies of patients with craniofacial pain and myofascial pain in other regions, but most of these studies report findings to suggest the dry needling may be helpful in reducing pain and improving other pain related variables such as the pain pressure threshold. More rigorous randomized controlled trials are clearly needed to more fully elucidate the effectiveness of dry needling.

  13. New Methods to Evaluate Craniofacial Deformity and to Plan Surgical Correction

    PubMed Central

    Gateno, Jaime; Xia, James J.; Teichgraeber, John F.

    2011-01-01

    The success of cranio-maxillofacial (CMF) surgery depends not only on surgical techniques, but also upon an accurate surgical plan. Unfortunately, traditional planning methods are often inadequate for planning complex cranio-maxillofacial deformities. To this end, we developed 3D computer-aided surgical simulation (CASS) technique. Using our CASS method, we are able to treat patients with significant asymmetries in a single operation which in the past was usually completed in two stages. The purpose of this article is to introduce our CASS method in evaluating craniofacial deformities and planning surgical correction. In addition, we discuss the problems associated with the traditional surgical planning methods. Finally, we discuss the strength and pitfalls of using three-dimensional measurements to evaluate craniofacial deformity. PMID:21927548

  14. Angiotensin receptor blockade mediated amelioration of mucopolysaccharidosis type I cardiac and craniofacial pathology

    PubMed Central

    Webber, Beau R.; McElmurry, Ronald T.; Rudser, Kyle D.; DeFeo, Anthony P.; Muradian, Michael; Petryk, Anna; Hallgrimsson, Benedikt; Blazar, Bruce R.; Tolar, Jakub

    2017-01-01

    Mucopolysaccharidosis type I (MPS IH) is a lysosomal storage disease (LSD) caused by inactivating mutations to the alpha-L-iduronidase (IDUA) gene. Treatment focuses on IDUA enzyme replacement and currently employed methods can be non-uniform in their efficacy particularly for the cardiac and craniofacial pathology. Therefore, we undertook efforts to better define the pathological cascade accounting for treatment refractory manifestations and demonstrate a role for the renin angiotensin system (RAS) using the IDUA−/− mouse model. Perturbation of the RAS in the aorta was more profound in male animals suggesting a causative role in the observed gender dimorphism and angiotensin receptor blockade (ARB) resulted in improved cardiac function. Further, we show the ability of losartan to prevent shortening of the snout, a common craniofacial anomaly in IDUA−/− mice. These data show a key role for the RAS in MPS associated pathology and support the inclusion of losartan as an augmentation to current therapies. PMID:27743312

  15. Transferrin receptor facilitates TGF-β and BMP signaling activation to control craniofacial morphogenesis

    PubMed Central

    Lei, R; Zhang, K; Liu, K; Shao, X; Ding, Z; Wang, F; Hong, Y; Zhu, M; Li, H; Li, H

    2016-01-01

    The Pierre Robin Sequence (PRS), consisting of cleft palate, glossoptosis and micrognathia, is a common human birth defect. However, how this abnormality occurs remains largely unknown. Here we report that neural crest cell (NCC)-specific knockout of transferrin receptor (Tfrc), a well known transferrin transporter protein, caused micrognathia, cleft palate, severe respiratory distress and inability to suckle in mice, which highly resemble human PRS. Histological and anatomical analysis revealed that the cleft palate is due to the failure of palatal shelves elevation that resulted from a retarded extension of Meckel's cartilage. Interestingly, Tfrc deletion dramatically suppressed both transforming growth factor-β (TGF-β) and bone morphogenetic protein (BMP) signaling in cranial NCCs-derived mandibular tissues, suggesting that Tfrc may act as a facilitator of these two signaling pathways during craniofacial morphogenesis. Together, our study uncovers an unknown function of Tfrc in craniofacial development and provides novel insight into the etiology of PRS. PMID:27362800

  16. Mesenchymal stem cells and alginate microcarriers for craniofacial bone tissue engineering: A review.

    PubMed

    Saltz, Adam; Kandalam, Umadevi

    2016-05-01

    Craniofacial bone is a complex structure with an intricate anatomical and physiological architecture. The defects that exist in this region therefore require a precise control of osteogenesis in their reconstruction. Unlike traditional surgical intervention, tissue engineering techniques mediate bone development with limited postoperative risk and cost. Alginate stands as the premier polymer in bone repair because of its mild ionotropic gelation and excellent biocompatibility, biodegradability, and injectability. Alginate microcarriers are candidates of choice to mediate cells and accommodate into 3-D environment. Several studies reported the use of alginate microcarriers for delivering cells, drugs, and growth factors. This review will explore the potential use of alginate microcarrier for stem cell systems and its application in craniofacial bone tissue engineering.

  17. The Ubiquitin E3 Ligase NOSIP Modulates Protein Phosphatase 2A Activity in Craniofacial Development

    PubMed Central

    Hoffmeister, Meike; Prelle, Carola; Küchler, Philipp; Kovacevic, Igor; Moser, Markus; Müller-Esterl, Werner; Oess, Stefanie

    2014-01-01

    Holoprosencephaly is a common developmental disorder in humans characterised by incomplete brain hemisphere separation and midface anomalies. The etiology of holoprosencephaly is heterogeneous with environmental and genetic causes, but for a majority of holoprosencephaly cases the genes associated with the pathogenesis could not be identified so far. Here we report the generation of knockout mice for the ubiquitin E3 ligase NOSIP. The loss of NOSIP in mice causes holoprosencephaly and facial anomalies including cleft lip/palate, cyclopia and facial midline clefting. By a mass spectrometry based protein interaction screen we identified NOSIP as a novel interaction partner of protein phosphatase PP2A. NOSIP mediates the monoubiquitination of the PP2A catalytic subunit and the loss of NOSIP results in an increase in PP2A activity in craniofacial tissue in NOSIP knockout mice. We conclude, that NOSIP is a critical modulator of brain and craniofacial development in mice and a candidate gene for holoprosencephaly in humans. PMID:25546391

  18. The organization and delivery of craniofacial health services: the state of the art.

    PubMed

    Strauss, R P

    1999-05-01

    The dominant organizational structure providing care for cleft palate and other craniofacial conditions is the health care team. Various types of health care team organization are profiled, including intradisciplinary, multidisciplinary, and interdisciplinary teams. Effective team-based care delivery has the ability to address the fragmentation and dehumanization that can result when a variety of specialists and disciplines are required to provide assessment and technical care. A team's leadership and its hierarchy of professional authority can be expected to affect its ability to function effectively. Health reform and managed care are considered for their impact on the team and on the doctor-patient relationship. Trends in team regionalization, quality assurance, outcomes research, and consumer advocacy are reviewed. The cleft palate and craniofacial team is profiled as an organizational model that is being affected by the forces of health system change.

  19. The role of physical therapy in craniofacial pain disorders: an adjunct to dental pain management.

    PubMed

    Heinrich, S

    1991-01-01

    Treatment of craniofacial pain disorders is often complicated by diverse factors such as acute or chronic trauma and persistent postural changes. In addition, emotional issues and life stress often cloud the recovery process. Physical therapists, with their diverse knowledge base and highly competent treatment skills, can be quite effective in assisting dentists and physicians with management of the many difficult upper quarter and craniofacial pain syndromes. This article reviews the role of myofascial and craniosacral dysfunction, as well as the function of posture, tension, and stress in the development of these syndromes. Additionally, it provides a comprehensive overview of the many evaluative techniques and treatment options that can be provided by today's physical therapists.

  20. Transdermal scopolamine and perioperative anisocoria in craniofacial surgery: a report of 3 patients.

    PubMed

    Lee, David T; Jenkins, Nelson L; Anastasopulos, Alexandra J; Volpe, A George; Lee, Bernard T; Lalikos, Janice F

    2013-03-01

    Postoperative nausea and vomiting (PONV) is a common complaint after plastic and reconstructive surgery. Transdermal scopolamine is a commonly used agent for prevention of PONV. Anisocoria from transdermal scopolamine use is an adverse effect that has not been reported in the plastic surgery literature. We present a series of 3 craniofacial patients in which ipsilateral mydriasis occurred and spontaneously resolved after removal of the scopolamine patch. Given the various causes and potentially grave implications of unilateral mydriasis, we discourage the use of transdermal scopolamine in craniofacial surgery, and especially in orbital surgery. However, if transdermal scopolamine is decided to be used for PONV prophylaxis, we recommend educating the patient, the operating room staff, and the surgical team regarding this potential adverse effect and to avoid finger-to-eye contamination after patch manipulation.

  1. A New Classification Based on the Kaban's Modification for Surgical Management of Craniofacial Microsomia

    PubMed Central

    Madrid, Jose Rolando Prada; Montealegre, Giovanni; Gomez, Viviana

    2010-01-01

    In medicine, classifications are designed to describe accurately and reliably all anatomic and structural components, establish a prognosis, and guide a given treatment. Classifications should be useful in a universal way to facilitate communication between health professionals and to formulate management protocols. In many situations and particularly with craniofacial microsomia, there have been many different classifications that do not achieve this goal. In fact, when there are so many classifications, one can conclude that there is not a clear one that accomplishes all these ends and defines a treatment protocol. It is our intent to present a new classification based on the Pruzansky's classification, later modified by Kaban, to determine treatment protocols based on the degree of osseous deficiency present in the body, ramus, and temporomandibular joint. Different mandibular defects are presented in two patients with craniofacial microsomia type III and IV according to our classification with the corresponding management proposed for each type and adequate functional results. PMID:22110812

  2. Atypical Case of Congenital Maxillomandibular Fusion with Duplication of the Craniofacial Midline

    PubMed Central

    Martín, Lorena Pingarrón; Pérez, Mercedes Martín; García, Elena Gómez; Martín-Moro, Javier González; González, Jose Ignacio Rodríguez; García, Miguel Burgueño

    2011-01-01

    We report the first case of syngnathia with hypophyseal duplication and describe the central nervous system (CNS) and craniofacial anomalies associated with hypophyseal duplication in the reported autopsy case. We studied clinical reports, scanner images, and autopsy results of a 2-months-old female baby. The propositus had frontonasal dysmorphism, retrognathia, and bifid tongue. She also presented maxillomandibular bony fusion (syngnathia) and an intraoral hairy polyp. In the cranium, the sella turcica was broadened, with two complete hypophyses and two infundibulums. The CNS had both olfactory bulbs and corpus callosum agenesis. There are 27 previous cases of maxillomandibular fusion and seven previous autopsy cases of hypophyseal duplication associated with other frontonasal malformations. As far as the authors know, this is the first case reported in the literature that associates syngnathia with duplication of the craniofacial midline including hypophyseal duplication. PMID:22655122

  3. Current Concepts of Bone Tissue Engineering for Craniofacial Bone Defect Repair

    PubMed Central

    Fishero, Brian Alan; Kohli, Nikita; Das, Anusuya; Christophel, John Jared; Cui, Quanjun

    2014-01-01

    Craniofacial fractures and bony defects are common causes of morbidity and contribute to increasing health care costs. Successful regeneration of bone requires the concomitant processes of osteogenesis and neovascularization. Current methods of repair and reconstruction include rigid fixation, grafting, and free tissue transfer. However, these methods carry innate complications, including plate extrusion, nonunion, graft/flap failure, and donor site morbidity. Recent research efforts have focused on using stem cells and synthetic scaffolds to heal critical-sized bone defects similar to those sustained from traumatic injury or ablative oncologic surgery. Growth factors can be used to augment both osteogenesis and neovascularization across these defects. Many different growth factor delivery techniques and scaffold compositions have been explored yet none have emerged as the universally accepted standard. In this review, we will discuss the recent literature regarding the use of stem cells, growth factors, and synthetic scaffolds as alternative methods of craniofacial fracture repair. PMID:25709750

  4. Quantitative Comparison of Volume Maintenance between Inlay and Onlay Bone Grafts in the Craniofacial Skeleton

    PubMed Central

    Sugg, Kristoffer B.; Rosenthal, Andrew H.; Ozaki, Wayne; Buchman, Steven R.

    2015-01-01

    Background Nonvascularized autologous bone grafts are the criterion standard in craniofacial reconstruction for bony defects involving the craniofacial skeleton. The authors have previously demonstrated that graft microarchitecture is the major determinant of volume maintenance for both inlay and onlay bone grafts following transplantation. This study performs a head-to-head quantitative analysis of volume maintenance between inlay and onlay bone grafts in the craniofacial skeleton using a rabbit model to comparatively determine their resorptive kinetics over time. Methods Fifty rabbits were divided randomly into six experimental groups: 3-week inlay, 3-week onlay, 8-week inlay, 8-week onlay, 16-week inlay, and 16-week onlay. Cortical bone from the lateral mandible and both cortical and cancellous bone from the ilium were harvested from each animal and placed either in or on the cranium. All bone grafts underwent micro–computed tomographic analysis at 3, 8, and 16 weeks. Results All bone graft types in the inlay position increased their volume over time, with the greatest increase in endochondral cancellous bone. All bone graft types in the onlay position decreased their volume over time, with the greatest decrease in endochondral cancellous bone. Inlay bone grafts demonstrated increased volume compared with onlay bone grafts of identical embryologic origin and microarchitecture at all time points (p < 0.05). Conclusions Inlay bone grafts, irrespective of their embryologic origin, consistently display less resorption over time compared with onlay bone grafts in the craniofacial skeleton. Both inlay and onlay bone grafts are driven by the local mechanical environment to recapitulate the recipient bed. PMID:23629083

  5. Surgical Classification of the Mandibular Deformity in Craniofacial Microsomia Using 3-Dimensional Computed Tomography

    PubMed Central

    Swanson, Jordan W.; Mitchell, Brianne T.; Wink, Jason A.; Taylor, Jesse A.

    2016-01-01

    Background: Grading systems of the mandibular deformity in craniofacial microsomia (CFM) based on conventional radiographs have shown low interrater reproducibility among craniofacial surgeons. We sought to design and validate a classification based on 3-dimensional CT (3dCT) that correlates features of the deformity with surgical treatment. Methods: CFM mandibular deformities were classified as normal (T0), mild (hypoplastic, likely treated with orthodontics or orthognathic surgery; T1), moderate (vertically deficient ramus, likely treated with distraction osteogenesis; T2), or severe (ramus rudimentary or absent, with either adequate or inadequate mandibular body bone stock; T3 and T4, likely treated with costochondral graft or free fibular flap, respectively). The 3dCT face scans of CFM patients were randomized and then classified by craniofacial surgeons. Pairwise agreement and Fleiss' κ were used to assess interrater reliability. Results: The 3dCT images of 43 patients with CFM (aged 0.1–15.8 years) were reviewed by 15 craniofacial surgeons, representing an average 15.2 years of experience. Reviewers demonstrated fair interrater reliability with average pairwise agreement of 50.4 ± 9.9% (Fleiss' κ = 0.34). This represents significant improvement over the Pruzansky–Kaban classification (pairwise agreement, 39.2%; P = 0.0033.) Reviewers demonstrated substantial interrater reliability with average pairwise agreement of 83.0 ± 7.6% (κ = 0.64) distinguishing deformities requiring graft or flap reconstruction (T3 and T4) from others. Conclusion: The proposed classification, designed for the era of 3dCT, shows improved consensus with respect to stratifying the severity of mandibular deformity and type of operative management. PMID:27104097

  6. Craniofacial abnormalities induced by retinoic acid: a preliminary histological and scanning electron microscopic (SEM) study.

    PubMed

    Emmanouil-Nikoloussi, E N; Goret-Nicaise, M; Foroglou, C H; Katsarma, E; Dhem, A; Dourov, N; Persaud, T V; Thliveris, J A

    2000-10-01

    Exogenous retinoic acid has been found to be teratogenic in animals and man. Craniofacial defects induced by retinoic acid have stimulated considerable research interest. The present report deals with scanning electron microscopical observations of the craniofacial region concurrent with histological examination of craniofacial dysmorphism induced in rat embryos following maternal treatment treated with varying dosages of all-trans-retinoic acid (tretinoin). Two groups of pregnant rats were treated with rat embryos exposed to retinoic acid suspended in corn oil (100 mg/kg b.w. on gestational day 11.5 and 50 mg/kg b.w. on gestational day 10, 11 and 12 respectively). A third group was treated with corn oil (vehicle) while a fourth group remained untreated. A wide spectrum of congenital abnormalities, including exophthalmos, microphthalmia and anophthalmia, maxillo-mandibular dysostosis, micrognathia of both maxilla and mandible, cleft palate, subdevelopment of ear lobe, preauricular tags and macroglossia, were observed in the offspring of retinoic acid treated animals. The abnormalities were both time and dosage dependent, and characteristic of Treacher Collins syndrome when retinoic-acid was administered on gestational day 11.5. In contrast, when retinoic acid was administered were on gestational days 10-12, the defects were similar to those seen in the first and second pharyngeal arch syndrome, as well as in the oculo-auriculo-vertebral spectrum. Whereas our data support the hypothesis that all-trans retinoic-acid disturbs growth and differentiation of several embryonic cell types essential for normal craniofacial development, its mechanism of action remains unclear.

  7. Developing business opportunities from concept to end point for craniofacial surgeons.

    PubMed

    Brown, Spencer A

    2012-01-01

    Craniofacial surgeons repair a wide variety of soft and hard tissues that produce the clinical expertise to recognize the need for an improved device or novel regenerative stem cell or use of molecules that may dramatically change the way clinical care for improved patient outcomes. The business pathway to bring a concept to clinical care requires knowledge, mentoring, and a team of experts in business and patent law.

  8. Reconstruction of craniofacial image using rational cubic Ball interpolant and soft computing technique

    NASA Astrophysics Data System (ADS)

    Majeed, Abdul; Piah, Abd Rahni Mt

    2015-10-01

    Spline has been used extensively in engineering design and modelling for representation, analysis and manufacturing purposes. This paper presents an application of spline methods in bio-medical modelling. We reconstruct craniofacial fractured skull bone images using rational cubic Ball interpolant with two free parameters. The free parameters are optimized with the help of genetic algorithm. Our emphasis is placed on the accuracy and smoothness of the reconstructed images.

  9. Orientation of craniofacial planes and temporomandibular disorder in young adults with normal occlusion.

    PubMed

    Ciancaglini, R; Colombo-Bolla, G; Gherlone, E F; Radaelli, G

    2003-09-01

    The aim of this study was to investigate the relationship between orientation of craniofacial planes relative to the true horizontal and temporomandibular disorder (TMD), in normal occlusion. Fourteen university dental students, with full natural dentition and bilateral Angle Class I occlusion, who exhibited signs and symptoms of TMD, were compared with 14 age- and sex-matched healthy controls. Frontal and lateral photographs were taken in natural head position with the subject standing up, clenching a Fox plane and having a facial arch positioned. Photographs were examined by a standardized image analysis. Inter-pupillary axis, Frankfurt, occlusal and Camper planes were evaluated. In frontal view, the Frankfurt plane was right rotated relative to the true horizontal both in TMD subjects (P < 0.01) and controls (P < 0.05), but rotation was larger in TMD subjects (mean difference between groups, 1.1 degrees, 95% confidence interval, 95% CI, 0.2-2.0 degrees ). No significant deviation from the horizontal or difference between groups was observed for the interpupillary axis and occlusal plane. In lateral view, the Frankfurt plane was upward-orientated relative to the true horizontal in TMD group (mean angular deviation 2.8 degrees, 95% CI, 1.0-4.6 degrees ). The occlusal and Camper planes were downward-orientated in both groups (P < 0.0001), but inclination of occlusal plane tended to be smaller in TMD subjects (mean difference between groups, -3.8 degrees, 95% CI, -7.6-0.1 degrees ). Angles between any craniofacial planes did not significantly differ between groups. The findings show that in young adults with normal occlusion, a weak association exists between the orientation of craniofacial planes in natural head position and signs and symptoms of TMD. Furthermore, they suggest that, within this population, TMD might be mainly associated with head posture rather than with craniofacial morphology.

  10. Low-Amplitude Craniofacial EMG Power Spectral Density and 3D Muscle Reconstruction from MRI

    PubMed Central

    Wiedemann, Lukas; Chaberova, Jana; Edmunds, Kyle; Einarsdóttir, Guðrún; Ramon, Ceon

    2015-01-01

    Improving EEG signal interpretation, specificity, and sensitivity is a primary focus of many current investigations, and the successful application of EEG signal processing methods requires a detailed knowledge of both the topography and frequency spectra of low-amplitude, high-frequency craniofacial EMG. This information remains limited in clinical research, and as such, there is no known reliable technique for the removal of these artifacts from EEG data. The results presented herein outline a preliminary investigation of craniofacial EMG high-frequency spectra and 3D MRI segmentation that offers insight into the development of an anatomically-realistic model for characterizing these effects. The data presented highlights the potential for confounding signal contribution from around 60 to 200 Hz, when observed in frequency space, from both low and high-amplitude EMG signals. This range directly overlaps that of both low γ (30-50 Hz) and high γ (50-80 Hz) waves, as defined traditionally in standatrd EEG measurements, and mainly with waves presented in dense-array EEG recordings. Likewise, average EMG amplitude comparisons from each condition highlights the similarities in signal contribution of low-activity muscular movements and resting, control conditions. In addition to the FFT analysis performed, 3D segmentation and reconstruction of the craniofacial muscles whose EMG signals were measured was successful. This recapitulation of the relevant EMG morphology is a crucial first step in developing an anatomical model for the isolation and removal of confounding low-amplitude craniofacial EMG signals from EEG data. Such a model may be eventually applied in a clinical setting to ultimately help to extend the use of EEG in various clinical roles. PMID:26913150

  11. Mapping of Craniofacial Traits in Outbred Mice Identifies Major Developmental Genes Involved in Shape Determination

    PubMed Central

    Pallares, Luisa F.; Carbonetto, Peter; Gopalakrishnan, Shyam; Parker, Clarissa C.; Ackert-Bicknell, Cheryl L.; Palmer, Abraham A.; Tautz, Diethard

    2015-01-01

    The vertebrate cranium is a prime example of the high evolvability of complex traits. While evidence of genes and developmental pathways underlying craniofacial shape determination is accumulating, we are still far from understanding how such variation at the genetic level is translated into craniofacial shape variation. Here we used 3D geometric morphometrics to map genes involved in shape determination in a population of outbred mice (Carworth Farms White, or CFW). We defined shape traits via principal component analysis of 3D skull and mandible measurements. We mapped genetic loci associated with shape traits at ~80,000 candidate single nucleotide polymorphisms in ~700 male mice. We found that craniofacial shape and size are highly heritable, polygenic traits. Despite the polygenic nature of the traits, we identified 17 loci that explain variation in skull shape, and 8 loci associated with variation in mandible shape. Together, the associated variants account for 11.4% of skull and 4.4% of mandible shape variation, however, the total additive genetic variance associated with phenotypic variation was estimated in ~45%. Candidate genes within the associated loci have known roles in craniofacial development; this includes 6 transcription factors and several regulators of bone developmental pathways. One gene, Mn1, has an unusually large effect on shape variation in our study. A knockout of this gene was previously shown to affect negatively the development of membranous bones of the cranial skeleton, and evolutionary analysis shows that the gene has arisen at the base of the bony vertebrates (Eutelostomi), where the ossified head first appeared. Therefore, Mn1 emerges as a key gene for both skull formation and within-population shape variation. Our study shows that it is possible to identify important developmental genes through genome-wide mapping of high-dimensional shape features in an outbred population. PMID:26523602

  12. The role of transforming growth factor alpha in rat craniofacial development and chondrogenesis.

    PubMed

    Huang, L; Solursh, M; Sandra, A

    1996-08-01

    To explore the possible role of transforming growth factor alpha (TGF-alpha) in craniofacial development, its expression in the craniofacial region of rat embryos from embryonic day (d) 9 to d 20 was examined by in situ hybridisation and immunostaining. The TGF-alpha transcripts were first detected in the neural fold of embryonic d 9 and 10 embryos. In the craniofacial region, the TGF-alpha transcripts were not detected until embryonic d 16 in mesenchyme surrounding the olfactory bulb, within the olfactory bulb, the nasal capsule, vomeronasal organ, and vibrissal follicle. In addition, TGF-alpha message was detected in mesenchyme in the vicinity of Meckel's cartilage, and in the dental epithelium and lamina. This expression pattern of TGF-alpha transcripts persisted until embryonic d 17 but disappeared by d 18. The presence of TGF-alpha protein largely coincided with TGF-alpha message although, unlike the message, it persisted throughout later embryogenesis in the craniofacial region. The possible function of TGF-alpha in chondrogenesis was explored by employing the micromass culture technique. Cartilage nodule formation in mesenchymal cells cultured from rat mandibles in the presence of TGF-alpha was significantly inhibited. This inhibitory effect of TGF-alpha on chondrogenesis was reversed by addition of antibody against the EGF receptor, which crossreacts with the TGF-alpha receptor. The inhibitory effect of TGF-alpha on chondrogenesis in vitro was further confirmed by micromass culture using mesenchymal cells from rat embryonic limb bud. Taken together, these results demonstrate the involvement of TGF-alpha in chondrogenesis during embryonic development, possibly by way of a specific inhibition of cartilage formation from mesenchymal precursor cells.

  13. The role of transforming growth factor alpha in rat craniofacial development and chondrogenesis.

    PubMed Central

    Huang, L; Solursh, M; Sandra, A

    1996-01-01

    To explore the possible role of transforming growth factor alpha (TGF-alpha) in craniofacial development, its expression in the craniofacial region of rat embryos from embryonic day (d) 9 to d 20 was examined by in situ hybridisation and immunostaining. The TGF-alpha transcripts were first detected in the neural fold of embryonic d 9 and 10 embryos. In the craniofacial region, the TGF-alpha transcripts were not detected until embryonic d 16 in mesenchyme surrounding the olfactory bulb, within the olfactory bulb, the nasal capsule, vomeronasal organ, and vibrissal follicle. In addition, TGF-alpha message was detected in mesenchyme in the vicinity of Meckel's cartilage, and in the dental epithelium and lamina. This expression pattern of TGF-alpha transcripts persisted until embryonic d 17 but disappeared by d 18. The presence of TGF-alpha protein largely coincided with TGF-alpha message although, unlike the message, it persisted throughout later embryogenesis in the craniofacial region. The possible function of TGF-alpha in chondrogenesis was explored by employing the micromass culture technique. Cartilage nodule formation in mesenchymal cells cultured from rat mandibles in the presence of TGF-alpha was significantly inhibited. This inhibitory effect of TGF-alpha on chondrogenesis was reversed by addition of antibody against the EGF receptor, which crossreacts with the TGF-alpha receptor. The inhibitory effect of TGF-alpha on chondrogenesis in vitro was further confirmed by micromass culture using mesenchymal cells from rat embryonic limb bud. Taken together, these results demonstrate the involvement of TGF-alpha in chondrogenesis during embryonic development, possibly by way of a specific inhibition of cartilage formation from mesenchymal precursor cells. Images Fig. 1 Fig. 2 Fig. 3 Fig. 4 Fig. 5 Fig. 6 Fig. 7 Fig. 9 PMID:8771398

  14. Craniofacial Morphology Affects Bite Force in Patients with Painful Temporomandibular Disorders.

    PubMed

    Bavia, Paula Furlan; Vilanova, Larissa Soares Reis; Garcia, Renata Cunha Matheus Rodrigues

    2016-01-01

    Craniofacial morphology affects masticatory performance in healthy dentate subjects, but little is known about its effects in patients with painful temporomandibular disorders (TMDs). Forty-eight female patients (mean age of 28±5.8 years) with painful TMDs underwent lateral cephalometric radiography. Using Ricketts' cephalometric analysis and the Vert method, subjects were assigned to three groups according to their craniofacial morphology: brachyfacial (n=22), mesofacial (n=13), and dolichofacial (n=13). Research diagnostic criteria for TMD were used to confirm the TMD diagnosis for each patient. Pain intensity was reported by each patient based on a visual analog scale (VAS). Maximum bite force (MBF) was measured with pressure sensors placed on the first molar site. Masticatory performance (MP) was assessed by chewing a silicone-based artificial material and determining the resulting particle size by the sieve method. Chewing ability (CA) was evaluated for seven food types and analyzed by a VAS questionnaire. Data were analyzed by one-way ANOVA followed by a Tukey-Kramer test (p<0.05). MBF differed in each group, with brachyfacial patients having the highest MBF values. There was no difference in MP among the groups. The groups differed only in their ability to chew one of the seven evaluated food types. In summary, craniofacial morphology affects the MBF without impairing MP or CA in patients with painful TMDs.

  15. Interaction between otorhinolaryngology and orthodontics: correlation between the nasopharyngeal airway and the craniofacial complex.

    PubMed

    Stellzig-Eisenhauer, Angelika; Meyer-Marcotty, Philipp

    2010-01-01

    In terms of pathophysiology, an anatomically narrow airway is a predisposing factor for obstruction of the upper respiratory tract. The correlation between the nasopharyngeal airway and the craniofacial structures is discussed in this context. Thus a mutual interaction between the pharynx and the mandibular position was demonstrated, whereby the transverse dimension of the nasopharynx was significantly larger in patients with prognathism than in patients with retrognathism. The influence of chronic obstruction of the nasal airway on craniofacial development was also discussed. The form-and-function interaction, which ought to explain the causal relationship between nasal obstruction and craniofacial growth, appears to be of a multifactorial rather than a one-dimensional, linear nature. It is not disputed, however, that expanding the maxilla improves not only nasal volume and nasal flow, but also the subjective sensation of patients, although it is not possible to make a prognostic statement about the extent of this improvement because of the differing reactions of individuals. Orthodontic appliances for advancing the mandible can also be successfully used in the treatment of mild obstructive sleep apnea syndrome. This treatment method should be considered particularly for patients who are unwilling to undergo or cannot tolerate CPAP (continuous positive airway pressure) treatment.

  16. Indications for Computer-Aided Design and Manufacturing in Congenital Craniofacial Reconstruction.

    PubMed

    Fisher, Mark; Medina, Miguel; Bojovic, Branko; Ahn, Edward; Dorafshar, Amir H

    2016-09-01

    The complex three-dimensional relationships in congenital craniofacial reconstruction uniquely lend themselves to the ability to accurately plan and model the result provided by computer-aided design and manufacturing (CAD/CAM). The goal of this study was to illustrate indications where CAD/CAM would be helpful in the treatment of congenital craniofacial anomalies reconstruction and to discuss the application of this technology and its outcomes. A retrospective review was performed of all congenital craniofacial cases performed by the senior author between 2010 and 2014. Cases where CAD/CAM was used were identified, and illustrative cases to demonstrate the benefits of CAD/CAM were selected. Preoperative appearance, computerized plan, intraoperative course, and final outcome were analyzed. Preoperative planning enabled efficient execution of the operative plan with predictable results. Risk factors which made these patients good candidates for CAD/CAM were identified and compiled. Several indications, including multisuture and revisional craniosynostosis, facial bipartition, four-wall box osteotomy, reduction cranioplasty, and distraction osteogenesis could benefit most from this technology. We illustrate the use of CAD/CAM for these applications and describe the decision-making process both before and during surgery. We explore why we believe that CAD/CAM is indicated in these scenarios as well as the disadvantages and risks.

  17. Inheritance of craniofacial features in Colombian families with class III malocclusion

    PubMed Central

    Otero, L; Quintero, L; Champsaur, D; Simanca, E

    2010-01-01

    Introduction The inheritance of class III malocclusion has been well documented, but the inheritance of craniofacial structures in Colombian families with this malocclusion has been not yet reported. Patients and methods The study sample of 25 families comprised 186 untreated orthodontic individuals from 8 to 60 years old. Pedigrees were drawn using Cyrillic software. Complete family histories for each proband were ascertained and the affection status of relatives was confirmed by lateral cephalograms and facial and dental photographs. Analysis of variance and odds ratio test for each parameter was performed to estimate inheritance from parents to offspring and to determine similar phenotypic features in relatives. Results The analysis of the pedigrees suggests autosomal dominant inheritance. The craniofacial characteristics that showed more resemblance between parents and offspring were middle facial height, shorter anterior cranial base and mandibular prognathism. In contrast the protrusion of upper lip and maxillary retrusion were the phenotypic features that contributed to class III in the majority of families. Conclusion Knowledge of the inheritance of craniofacial phenotypes in class III malocclusion will enable the design of new therapies to treat this malocclusion. PMID:23776347

  18. Lyophilized Platelet-Rich Fibrin (PRF) Promotes Craniofacial Bone Regeneration through Runx2

    PubMed Central

    Li, Qi; Reed, David A.; Min, Liu; Gopinathan, Gokul; Li, Steve; Dangaria, Smit J.; Li, Leo; Geng, Yajun; Galang, Maria-Therese; Gajendrareddy, Praveen; Zhou, Yanmin; Luan, Xianghong; Diekwisch, Thomas G. H.

    2014-01-01

    Freeze-drying is an effective means to control scaffold pore size and preserve its composition. The purpose of the present study was to determine the applicability of lyophilized Platelet-rich fibrin (LPRF) as a scaffold for craniofacial tissue regeneration and to compare its biological effects with commonly used fresh Platelet-rich fibrin (PRF). LPRF caused a 4.8-fold ± 0.4-fold elevation in Runt-related transcription factor 2 (Runx2) expression in alveolar bone cells, compared to a 3.6-fold ± 0.2-fold increase when using fresh PRF, and a more than 10-fold rise of alkaline phosphatase levels and mineralization markers. LPRF-induced Runx2 expression only occurred in alveolar bone and not in periodontal or dental follicle cells. LPRF also caused a 1.6-fold increase in osteoblast proliferation (p < 0.001) when compared to fresh PRF. When applied in a rat craniofacial defect model for six weeks, LPRF resulted in 97% bony coverage of the defect, compared to 84% for fresh PRF, 64% for fibrin, and 16% without scaffold. Moreover, LPRF thickened the trabecular diameter by 25% when compared to fresh PRF and fibrin, and only LPRF and fresh PRF resulted in the formation of interconnected trabeculae across the defect. Together, these studies support the application of lyophilized PRF as a biomimetic scaffold for craniofacial bone regeneration and mineralized tissue engineering. PMID:24830554

  19. CT and MR Imaging in a Large Series of Patients with Craniofacial Fibrous Dysplasia

    PubMed Central

    Atalar, Mehmet Haydar; Salk, Ismail; Savas, Recep; Uysal, Ismail Onder; Egilmez, Hulusi

    2015-01-01

    Summary Background In this retrospective review of patients with craniofacial fibrous dysplasia (FD), the clinical and radiological findings of CT and MR scan were analyzed. Material/Methods The study material included 32 patients, at 9 to 68 years of age that were directed for differential diagnostics of several disorders in the head. We recorded CT and MRI data related to the lesion number, location, sidedness, appearance, and sex of the cases with craniofacial FD. Results Of 32 patients involved in this study, 17 had monostotic and 15 had polyostotic involvement pattern. Bones most commonly involved by monostotic involvement in females were, in descending order, mandibular, maxillary, and sphenoid bones, while the sphenoid bone was involved the most in males. Leontiasis ossea was observed in 2 patients. Sclerotic and mixed lesion types were more common in both females and males. In T1- and T2-weighted MRI sequences, hypointensity was more common compared to hyperintensity or heterogeneous intensity. The type of enhancement of lesions was found similar after contrast medium administration. Conclusions In the presence of craniofacial FD during CT or MRI imaging of the head, a detailed description of FD lesions may provide an important clinical benefit by increasing radiological experience during the diagnostics of this rare disorder. PMID:26000068

  20. Secretory COPII coat component Sec23a is essential for craniofacial chondrocyte maturation.

    PubMed

    Lang, Michael R; Lapierre, Lynne A; Frotscher, Michael; Goldenring, James R; Knapik, Ela W

    2006-10-01

    An increasing number of human disorders have been linked to mutations in genes of the secretory pathway. The chemically induced zebrafish crusher variant results in malformed craniofacial skeleton, kinked pectoral fins and a short body length. By positional cloning, we identified a nonsense mutation converting leucine to a stop codon (L402X) in the sec23a gene, an integral component of the COPII complex, which is critical for anterograde protein trafficking between endoplasmic reticulum and Golgi apparatus. Zebrafish crusher mutants develop normally until the onset of craniofacial chondrogenesis. crusher chondrocytes accumulate proteins in a distended endoplasmic reticulum, resulting in severe reduction of cartilage extracellular matrix (ECM) deposits, including type II collagen. We demonstrate that the paralogous gene sec23b is also an essential component of the ECM secretory pathway in chondrocytes. In contrast, knockdown of the COPI complex does not hinder craniofacial morphogenesis. As SEC23A lesions cause the cranio-lenticulo-sutural dysplasia syndrome, crusher provides the first vertebrate model system that links the biology of endoplasmic reticulum to Golgi trafficking with a clinically relevant dysmorphology.

  1. 3D-Printing Technologies for Craniofacial Rehabilitation, Reconstruction, and Regeneration.

    PubMed

    Nyberg, Ethan L; Farris, Ashley L; Hung, Ben P; Dias, Miguel; Garcia, Juan R; Dorafshar, Amir H; Grayson, Warren L

    2017-01-01

    The treatment of craniofacial defects can present many challenges due to the variety of tissue-specific requirements and the complexity of anatomical structures in that region. 3D-printing technologies provide clinicians, engineers and scientists with the ability to create patient-specific solutions for craniofacial defects. Currently, there are three key strategies that utilize these technologies to restore both appearance and function to patients: rehabilitation, reconstruction and regeneration. In rehabilitation, 3D-printing can be used to create prostheses to replace or cover damaged tissues. Reconstruction, through plastic surgery, can also leverage 3D-printing technologies to create custom cutting guides, fixation devices, practice models and implanted medical devices to improve patient outcomes. Regeneration of tissue attempts to replace defects with biological materials. 3D-printing can be used to create either scaffolds or living, cellular constructs to signal tissue-forming cells to regenerate defect regions. By integrating these three approaches, 3D-printing technologies afford the opportunity to develop personalized treatment plans and design-driven manufacturing solutions to improve aesthetic and functional outcomes for patients with craniofacial defects.

  2. Endonasal ethmoidectomy and bifrontal craniotomy with craniofacial approach for resection of frontoethmoidal osteoma causing tension pneumocephalus.

    PubMed

    Park, Michael C; Goldman, Marc A; Donahue, John E; Tung, Glenn A; Goel, Ritu; Sampath, Prakash

    2008-01-01

    Tension pneumocephalus is an unusual, potentially life-threatening complication of frontal fossa tumors. We present an uncommon case of a frontoethmoidal osteoma causing a tension pneumocephalus and neurological deterioration prompting a combined endonasal ethmoidectomy and bifrontal craniotomy with craniofacial approach for resection. A 68-year-old man presented with a 1-week history of worsening headache, slowness of speech, and increasing confusion. Standard computed tomography scan revealed a marked tension pneumocephalus with ventricular air and 1-cm midline shift to the right. Further studies showed a calcified left ethmoid mass and a left anterior cranial-base defect. A team composed of neurosurgery and otolaryngology performed a combined endonasal ethmoidectomy and bifrontal craniotomy with craniofacial approach to resect a large frontoethmoid bony tumor. No abscess or mucocele was identified. The skull base defect was repaired with the aid of a transnasal endoscopy, a titanium mesh, and a pedunculated pericranial flap. Postoperatively, the pneumocephalus and the patient's symptoms completely resolved. Pathology was consistent with a benign osteoma. This is an uncommon case of a frontoethmoidal osteoma associated with tension pneumocephalus. Recognition of this entity and timely diagnosis and treatment, consisting of an endonasal ethmoidectomy and a bifrontal craniotomy with craniofacial approach, may prevent potential life-threatening complications.

  3. Interaction between otorhinolaryngology and orthodontics: correlation between the nasopharyngeal airway and the craniofacial complex

    PubMed Central

    Stellzig-Eisenhauer, Angelika; Meyer-Marcotty, Philipp

    2011-01-01

    In terms of pathophysiology, an anatomically narrow airway is a predisposing factor for obstruction of the upper respiratory tract. The correlation between the nasopharyngeal airway and the craniofacial structures is discussed in this context. Thus a mutual interaction between the pharynx and the mandibular position was demonstrated, whereby the transverse dimension of the nasopharynx was significantly larger in patients with prognathism than in patients with retrognathism. The influence of chronic obstruction of the nasal airway on craniofacial development was also discussed. The form-and-function interaction, which ought to explain the causal relationship between nasal obstruction and craniofacial growth, appears to be of a multifactorial rather than a one-dimensional, linear nature. It is not disputed, however, that expanding the maxilla improves not only nasal volume and nasal flow, but also the subjective sensation of patients, although it is not possible to make a prognostic statement about the extent of this improvement because of the differing reactions of individuals. Orthodontic appliances for advancing the mandible can also be successfully used in the treatment of mild obstructive sleep apnea syndrome. This treatment method should be considered particularly for patients who are unwilling to undergo or cannot tolerate CPAP (continuous positive airway pressure) treatment. PMID:22073108

  4. Biocompatibility of adhesive complex coacervates modeled after the Sandcastle glue of P. californica for craniofacial reconstruction

    PubMed Central

    Winslow, Brent D.; Shao, Hui; Stewart, Russell J.; Tresco, Patrick A.

    2011-01-01

    Craniofacial reconstruction would benefit from a degradable adhesive capable of holding bone fragments in three-dimensional alignment and gradually being replaced by new bone without loss of alignment or volume changes. Modeled after a natural adhesive secreted by the sandcastle worm, we studied the biocompatibility of adhesive complex coacervates in vitro and in vivo with two different rat calvarial models. We found that the adhesive was non-cytotoxic and supported the attachment, spreading, and migration of a commonly used osteoblastic cell line over the course of several days. In animal studies we found that the adhesive was capable of maintaining three-dimensional bone alignment in freely moving rats over a 12 week indwelling period. Histological evidence indicated that the adhesive was gradually resorbed and replaced by new bone that became lamellar across the defect without loss of alignment, changes in volume, or changes in the adjacent uninjured bone. The presence of inflammatory cells was consistent with what has been reported with other craniofacial fixation methods including metal plates, screws, tacks, calcium phosphate cements and cyanoacrylate adhesives. Collectively, the results suggest that the new bioadhesive formulation is degradable, osteoconductive and appears suitable for use in the reconstruction of craniofacial fractures. PMID:20950851

  5. Human Development Domain of the Ontology of Craniofacial Development and Malformation

    PubMed Central

    Mejino, Jose LV; Travillian, Ravensara S; Cox, Timothy C; Shapiro, Linda G; Brinkley, James F

    2017-01-01

    In this paper we describe an ontological scheme for representing anatomical entities undergoing morphological transformation and changes in phenotype during prenatal development. This is a proposed component of the Anatomical Transformation Abstraction (ATA) of the Foundational Model of Anatomy (FMA) Ontology that was created to provide an ontological framework for capturing knowledge about human development from the zygote to postnatal life. It is designed to initially describe the structural properties of the anatomical entities that participate in human development and then enhance their description with developmental properties, such as temporal attributes and developmental processes. This approach facilitates the correlation and integration of the classical but static representation of embryology with the evolving novel concepts of developmental biology, which primarily deals with the experimental data on the mechanisms of embryogenesis and organogenesis. This is important for describing and understanding the underlying processes involved in structural malformations. In this study we focused on the development of the lips and the palate in conjunction with our work on the pathogenesis and classification of cleft lip and palate (CL/P) in the FaceBase program. Our aim here is to create the Craniofacial Human Development Ontology (CHDO) to support the Ontology of Craniofacial Development and Malformation (OCDM), which provides the infrastructure for integrating multiple and disparate craniofacial data generated by FaceBase researchers.

  6. Signaling pathways affecting skeletal health.

    PubMed

    Marie, Pierre J

    2012-09-01

    Skeletal health is dependent on the balance between bone resorption and formation during bone remodeling. Multiple signaling pathways play essential roles in the maintenance of skeletal integrity by positively or negatively regulating bone cells. During the last years, significant advances have been made in our understanding of the essential signaling pathways that regulate bone cell commitment, differentiation and survival. New signaling anabolic pathways triggered by parathyroid hormone, local growth factors, Wnt signaling, and calcium sensing receptor have been identified. Novel signals induced by interactions between bone cells-matrix (integrins), osteoblasts/osteocytes (cadherins, connexins), and osteoblasts/osteoclast (ephrins, Wnt-RhoA, semaphorins) have been discovered. Recent studies revealed the key pathways (MAPK, PI3K/Akt) that critically control bone cells and skeletal mass. This review summarizes the most recent knowledge on the major signaling pathways that control bone cells, and their potential impact on the development of therapeutic strategies to improve human bone health.

  7. Skeletal Complications of Eating Disorders

    PubMed Central

    Donaldson, Abigail A.; Gordon, Catherine M.

    2015-01-01

    Anorexia Nervosa (AN) is a psychiatric illness with profound medical consequences. Among the many adverse physical sequelae of AN, bone health is impacted by starvation and can be permanently impaired over the course of the illness. In this review of skeletal complications associated with eating disorders, we discuss the epidemiology, neuroendocrine changes, adolescent vs. adult skeletal considerations, orthopedic concerns, assessment of bone health, and treatment options for individuals with AN. The focus of the review is the skeletal sequelae associated with anorexia nervosa, but we also briefly consider other eating disorders that may afflict adolescents and young adults. The review presents updates to the field of bone health in AN, and also suggests knowledge gaps and areas for future investigation. PMID:26166318

  8. A comparison of skeletal, dentoalveolar and soft tissue characteristics in white and black Brazilian subjects

    PubMed Central

    de FREITAS, Lívia Maria Andrade; de FREITAS, Karina Maria Salvatore; PINZAN, Arnaldo; JANSON, Guilherme; de FREITAS, Marcos Roberto

    2010-01-01

    Objective This study aimed to compare skeletal, dentoalveolar and soft tissue characteristics in white and black Brazilian subjects presenting normal occlusions. Material and Methods The sample comprised the lateral cephalograms of 106 untreated Brazilian subjects with normal occlusion, divided into two groups: Group 1- 50 white subjects (25 of each gender), at a mean age of 13.17 years (standard deviation 1.07); and Group 2- 56 black subjects (28 of each gender), at a mean age of 13.24 years (standard deviation 0.56). Variables studied were obtained from several cephalometric analyses. Independent t tests were used for intergroup comparison and to determine sexual dimorphism. Results black subjects presented a more protruded maxilla and mandible, a smaller chin prominence and a greater maxillomandibular discrepancy than white subjects. Blacks presented a more horizontal craniofacial growth pattern than whites. Maxillary and mandibular incisors presented more protruded and proclined in black subjects. The nasolabial angle was larger in whites. Upper and lower lips were more protruded in blacks than in whites. Conclusions The present study found a bimaxillary skeletal, dentoalveolar and soft tissue protrusion in black Brazilian subjects compared to white Brazilian subjects, both groups with normal occlusion. Upper and lower lips showed to be more protruded in blacks, but lip thickness was similar in both groups. PMID:20485924

  9. Airway in Class I and Class II skeletal pattern: A computed tomography study

    PubMed Central

    Paul, Deepthi; Varma, Sapna; Ajith, V. V.

    2015-01-01

    Background and Objectives: A normal airway is required for the normal growth of the craniofacial structures. The present study was designed to evaluate and compare the airway in Class I and Class II skeletal pattern and to see if there is any association between the airway and maxillomandibular relationship. Materials and Methods: Peripheral nervous system computed tomography scans of 30 patients were divided into two groups as Class I (ANB ≤ 4.5°), Class II (ANB ≥ 4.5°). The Dolphin three-dimensional version 11 was used to assess the airway. Statistical Analysis: Correlations between the variables were tested with the Pearson correlation coefficient. Independent sample t-test was performed to compare the averages between the two groups. P < 0.05 was considered as statistically significant. Results: The ANB angle was negatively correlated with all the airway parameters. The airway area and volume was significantly reduced in Class II subjects compared to Class I. Conclusion: The results suggest a strong association between the airway and skeletal pattern showing a reduced airway in Class II patients with a high ANB angle. PMID:26321823

  10. Measurement of color for craniofacial structures using a 45/0-degree optical configuration

    PubMed Central

    Gozalo-Diaz, David J.; Lindsey, Delwin T.; Johnston, William M.; Wee, Alvin G.

    2007-01-01

    Statement of problem The color of vital craniofacial structures has not been measured accurately. Purpose The purpose of this study was to determine the color of vital craniofacial structures and evaluate the validity and test-retest reliability of a noncontacting 45/0-degree optical configuration. Material and methods A spectroradiometer and an external light source were configured in a noncontacting 45/0-degree (45-degree illumination and 0-degree observer) optical configuration to measure the color of subjects’ vital craniofacial structures (central and lateral incisor and canine, attached gingiva, lips, and facial skin). The 120 subjects were stratified into 5 age groups with 4 racial categories and balanced for gender. For evaluation of validity, linear regressions and 95% confidence intervals were calculated for ΔL*, Δa*, Δb* [color difference of (CIE) LAB values] between the measured and certified values of the 22 color patches of the DC Color Checker. For test-retest reliability, a random sample of 12 (10%) subjects was remeasured at a second visit. Paired t tests, correlations, and Bland-Altman analyses were performed between the first and second measurements of the 12 pairs of L*, a*, and b* values for the 6 craniofacial structures. Results For validity, the mean color difference and linear regression for Commission Internationale d’Eclair-age (CIE) LAB values between measured and certified color of the 22 opaque color patches were ΔE of 1.46 and 0.99 for all regressions, respectively. Only Δa* did not contain zero in its 95% confidence interval. For test-retest reliability, no paired t tests were significantly different from each other, and the Pearson correlation coefficient ranged from 0.9 (9 pairs) to 0.7 (3 pairs). Ten of the 18 Bland-Altman plots showed good reliability. Conclusion The spectral reflectance of craniofacial structures can be measured with acceptable validity and test-retest reliability using a noncontacting 45/0-degree

  11. Skeletal Muscle Hypertrophy after Aerobic Exercise Training

    PubMed Central

    Konopka, Adam R.; Harber, Matthew P.

    2014-01-01

    Current dogma suggests aerobic exercise training has minimal effect on skeletal muscle size. We and others have demonstrated that aerobic exercise acutely and chronically alters protein metabolism and induces skeletal muscle hypertrophy. These findings promote an antithesis to the status quo by providing novel perspective on skeletal muscle mass regulation and insight into exercise-countermeasures for populations prone to muscle loss. PMID:24508740

  12. A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies

    PubMed Central

    Shaheen, Ranad; Schmidts, Miriam; Faqeih, Eissa; Hashem, Amal; Lausch, Ekkehart; Holder, Isabel; Superti-Furga, Andrea; Mitchison, Hannah M.; Almoisheer, Agaadir; Alamro, Rana; Alshiddi, Tarfa; Alzahrani, Fatma; Beales, Philip L.; Alkuraya, Fowzan S.

    2015-01-01

    Jeune asphyxiating thoracic dystrophy (JATD) is a skeletal dysplasia characterized by a small thoracic cage and a range of skeletal and extra-skeletal anomalies. JATD is genetically heterogeneous with at least nine genes identified, all encoding ciliary proteins, hence the classification of JATD as a skeletal ciliopathy. Consistent with the observation that the heterogeneous molecular basis of JATD has not been fully determined yet, we have identified two consanguineous Saudi families segregating JATD who share a single identical ancestral homozygous haplotype among the affected members. Whole-exome sequencing revealed a single novel variant within the disease haplotype in CEP120, which encodes a core centriolar protein. Subsequent targeted sequencing of CEP120 in Saudi and European JATD cohorts identified two additional families with the same missense mutation. Combining the four families in linkage analysis confirmed a significant genome-wide linkage signal at the CEP120 locus. This missense change alters a highly conserved amino acid within CEP120 (p.Ala199Pro). In addition, we show marked reduction of cilia and abnormal number of centrioles in fibroblasts from one affected individual. Inhibition of the CEP120 ortholog in zebrafish produced pleiotropic phenotypes characteristic of cilia defects including abnormal body curvature, hydrocephalus, otolith defects and abnormal renal, head and craniofacial development. We also demonstrate that in CEP120 morphants, cilia are shortened in the neural tube and disorganized in the pronephros. These results are consistent with aberrant CEP120 being implicated in the pathogenesis of JATD and expand the role of centriolar proteins in skeletal ciliopathies. PMID:25361962

  13. Bilateral cleft lip and palate: A morphometric analysis of facial skeletal form using cone beam computed tomography.

    PubMed

    Starbuck, John M; Ghoneima, Ahmed; Kula, Katherine

    2015-07-01

    Bilateral cleft lip and palate (BCLP) is caused by a lack of merging of maxillary and nasal facial prominences during development and morphogenesis. BCLP is associated with congenital defects of the oronasal facial region that can impair ingestion, mastication, speech, and dentofacial development. Using cone beam computed tomography (CBCT) images, 7- to 18-year old individuals born with BCLP (n = 15) and age- and sex-matched controls (n = 15) were retrospectively assessed. Coordinate values of three-dimensional facial skeletal anatomical landmarks (n = 32) were measured from each CBCT image. Data were evaluated using principal coordinates analysis (PCOORD) and Euclidean Distance Matrix Analysis (EDMA). PCOORD axes 1-3 explain approximately 45% of the morphological variation between samples, and specific patterns of morphological differences were associated with each axis. Approximately, 30% of facial skeletal measures significantly differ by confidence interval testing (α = 0.10) between samples. While significant form differences occur across the facial skeleton, strong patterns of differences are localized to the lateral and superioinferior aspects of the nasal aperture. In conclusion, the BCLP deformity significantly alters facial skeletal morphology of the midface and oronasal regions of the face, but morphological differences were also found in the upper facial skeleton and to a lesser extent, the lower facial skeleton. This pattern of strong differences in the oronasal region of the facial skeleton combined with differences across the rest of the facial complex underscores the idea that bones of the craniofacial skeleton are integrated.

  14. Gpr177, a novel locus for bone mineral density and osteoporosis, regulates osteogenesis and chondrogenesis in skeletal development.

    PubMed

    Maruyama, Takamitsu; Jiang, Ming; Hsu, Wei

    2013-05-01

    Human genetic analysis has recently identified Gpr177 as a susceptibility locus for bone mineral density and osteoporosis. Determining the unknown function of this gene is therefore extremely important to furthering our knowledge base of skeletal development and disease. The protein encoded by Gpr177 exhibits an ability to modulate the trafficking of Wnt, similar to the Drosophila Wls/Evi/Srt. Because it plays a critical role in Wnt regulation, Gpr177 might be required for several key steps of skeletogenesis. To overcome the early lethality associated with the inactivation of Gpr177 in mice, conditional gene deletion is used to assess its functionality. Here we report the generation of four different mouse models with Gpr177 deficiency in various skeletogenic cell types. The loss of Gpr177 severely impairs development of the craniofacial and body skeletons, demonstrating its requirement for intramembranous and endochondral ossifications, respectively. Defects in the expansion of skeletal precursors and their differentiation into osteoblasts and chondrocytes suggest that Wnt production and signaling mediated by Gpr177 cannot be substituted. Because the Gpr177 ablation impairs Wnt secretion, we therefore identify the sources of Wnt proteins essential for osteogenesis and chondrogenesis. The intercross of Wnt signaling between distinct cell types is carefully orchestrated and necessary for skeletogenesis. Our findings lead to a proposed mechanism by which Gpr177 controls skeletal development through modulation of autocrine and paracrine Wnt signals in a lineage-specific fashion.

  15. A combined series of Fgf9 and Fgf18 mutant alleles identifies unique and redundant roles in skeletal development.

    PubMed

    Hung, Irene H; Schoenwolf, Gary C; Lewandoski, Mark; Ornitz, David M

    2016-03-01

    Fibroblast growth factor (FGF) signaling is a critical regulator of skeletal development. Fgf9 and Fgf18 are the only FGF ligands with identified functions in embryonic bone growth. Mice lacking Fgf9 or Fgf18 have distinct skeletal phenotypes; however, the extent of overlapping or redundant functions for these ligands and the stage-specific contributions of FGF signaling to chondrogenesis and osteogenesis are not known. To identify separate versus shared roles for FGF9 and FGF18, we generated a combined series of Fgf9 and Fgf18 null alleles. Analysis of embryos lacking alleles of Fgf9 and Fgf18 shows that both encoded ligands function redundantly to control all stages of skeletogenesis; however, they have variable potencies along the proximodistal limb axis, suggesting gradients of activity during formation of the appendicular skeleton. Congenital absence of both Fgf9 and Fgf18 results in a striking osteochondrodysplasia and revealed functions for FGF signaling in early proximal limb chondrogenesis. Additional defects were also noted in craniofacial bones, vertebrae, and ribs. Loss of alleles of Fgf9 and Fgf18 also affect the expression of genes encoding other key intrinsic skeletal regulators, including IHH, PTHLH (PTHrP), and RUNX2, revealing potential direct, indirect, and compensatory mechanisms to coordinate chondrogenesis and osteogenesis.

  16. Increased cranial capacity in hominid evolution and preeclampsia.

    PubMed

    Chaline, Jean

    2003-08-01

    One of the major trends in primate evolution generally and hominid evolution in particular, is cranio-facial contraction accompanied by an increase in cranial capacity. Landmark-based morphometric methods are applied to adult skulls of great apes (Gorilla, Pan), australopithecines (Australopithecus and Paranthropus), and humans (Homo eragster, erectus, neanderthalensis, and sapiens). Morphological changes quantified by vector fields (Procrustes methods) indicate that these skull plans are characterized by distinctive degrees of cranio-facial contraction. These suggest the existence of three discrete skull organization plans: "great ape", "australopithecine" and "Homo". This paper focuses on the "Homo" skull bauplan and discusses the possible relationships between greatly increased cranial capacity and preeclampsia. The earliest species of the human lineage exhibit less cranio-facial contraction and smaller cranial capacity than Homo neanderthalensis and modern Homo sapiens. Neandertalization introduces a posterior elongation of the skull and leads to a large increase in cranial capacity in the last Neandertals, with values as large as in present-day H. sapiens. Consequently, a new biological hypothesis is proposed to account for the unexplained disappearance of H. neanderthalensis some 30000 years ago related to the possible appearance of preeclampsia as a factor affecting the survival of the species.

  17. Skeletal dysplasia in ancient Egypt.

    PubMed

    Kozma, Chahira

    2008-12-01

    The ancient Egyptian civilization lasted for over 3000 years and ended in 30 BCE. Many aspects of ancient Egyptian culture, including the existence of skeletal dysplasias, and in particular achondroplasia, are well known through the monuments and records that survived until modern times. The hot and dry climate in Egypt allowed for the preservation of bodies and skeletal anomalies. The oldest dwarf skeleton, the Badarian skeleton (4500 BCE), possibly represents an epiphyseal disorder. Among the remains of dwarfs with achondroplasia from ancient Egypt (2686-2190 BCE), exists a skeleton of a pregnant female, believed to have died during delivery with a baby's remains in situ. British museums have partial skeletons of dwarfs with achondroplasia, humeri probably affected with mucopolysaccharidoses, and a skeleton of a child with osteogenesis imperfecta. Skeletal dysplasia is also found among royal remains. The mummy of the pharaoh Siptah (1342-1197 BCE) shows a deformity of the left leg and foot. A mummified fetus, believed to be the daughter of king Tutankhamun, has scoliosis, spina bifida, and Sprengel deformity. In 2006 I reviewed the previously existing knowledge of dwarfism in ancient Egypt. The purpose of this second historical review is to add to that knowledge with an expanded contribution. The artistic documentation of people with skeletal dysplasia from ancient Egypt is plentiful including hundreds of amulets, statues, and drawing on tomb and temple walls. Examination of artistic reliefs provides a glance of the role of people with skeletal dysplasia and the societal attitudes toward them. Both artistic evidence and moral teachings in ancient Egypt reveal wide integration of individuals with disabilities into the society.

  18. The paranasal sinuses: the last frontier in craniofacial biology.

    PubMed

    Márquez, Samuel

    2008-11-01

    This special issue of the Anatomical Record explores the presence and diversity of paranasal sinuses in distinct vertebrate groups. The following topics are addressed in particular: dinosaur physiology; development; physiology; adaptation; imaging; and primate systematics. A variety of approaches and techniques are used to examine and characterize the diversity of paranasal sinus pneumatization in a wide spectrum of vertebrates. These range from dissection to histology, from plain X-rays to computer tomography, from comparative anatomy to natural experimental settings, from mathematical computation to computer model simulation, and 2D to 3D reconstructions. The articles in this issue are a combination of literature review and new, hypothesis-driven anatomical research that highlights the complexities of paranasal sinus growth and development; ontogenetic and disease processes; physiology; paleontology; primate systematics; and human evolution. The issue incorporates a wide variety of vertebrates, encompassing a period of over 65 million years, in an effort to offer insight into the diversity of the paranasal sinus complexes through time and space, and thereby providing a greater understanding and appreciation of these special spaces within the cranium.

  19. Chronic up-regulation of sonic hedgehog has little effect on postnatal craniofacial morphology of euploid and trisomic mice

    PubMed Central

    Singh, Nandini; Dutka, Tara; Reeves, Roger H.; Richtsmeier, Joan T.

    2015-01-01

    Background In Ts65Dn, a mouse model of Down syndrome (DS), brain and craniofacial abnormalities that parallel those in people with DS are linked to an attenuated cellular response to sonic hedgehog (SHH) signaling. If a similarly reduced response to SHH occurs in all trisomic cells, then chronic up-regulation of the pathway might have a positive effect on development in trisomic mice, resulting in amelioration of the craniofacial anomalies. Results We crossed Ts65Dn with Ptch1tm1Mps/+ mice and quantified the craniofacial morphology of Ts65Dn;Ptch+/− offspring to assess whether a chronic up-regulation of the SHH pathway rescued DS-related anomalies. Ts65Dn;Ptch1+/− mice experience a chronic increase in SHH in SHH-receptive cells due to haploinsufficiency of the pathway suppressor, Ptch1. Chronic up-regulation had minimal effect on craniofacial shape and did not correct facial abnormalities in Ts65Dn;Ptch+/− mice. We further compared effects of this chronic up-regulation of SHH to acute pathway stimulation in mice treated on the day of birth with a SHH pathway agonist, SAG. We found that SHH affects facial morphology differently based on chronic vs. acute postnatal pathway up-regulation. Conclusions Our findings have implications for understanding the function of SHH in craniofacial development and for the potential use of SHH-based agonists to treat DS-related abnormalities. PMID:26509735

  20. A rapid, flexible method for incorporating controlled antibiotic release into porous polymethylmethacrylate space maintainers for craniofacial reconstruction.

    PubMed

    Mountziaris, P M; Shah, S R; Lam, J; Bennett, G N; Mikos, A G

    2016-01-01

    Severe injuries in the craniofacial complex, resulting from trauma or pathology, present several challenges to functional and aesthetic reconstruction. The anatomy and position of the craniofacial region make it vulnerable to injury and subsequent local infection due to external bacteria as well as those from neighbouring structures like the sinuses, nasal passages, and mouth. Porous polymethylmethacrylate (PMMA) "space maintainers" have proven useful in staged craniofacial reconstruction by promoting healing of overlying soft tissue prior to reconstruction of craniofacial bones. We describe herein a method by which the porosity of a prefabricated porous PMMA space maintainer, generated by porogen leaching, can be loaded with a thermogelling copolymer-based drug delivery system. Porogen leaching, space maintainer prewetting, and thermogel loading all significantly affected the loading of a model antibiotic, colistin. Weeks-long release of antibiotic at clinically relevant levels was achieved with several formulations. In vitro assays confirmed that the released colistin maintained its antibiotic activity against several bacterial targets. Our results suggest that this method is a valuable tool in the development of novel therapeutic approaches for the treatment of severe complex, infected craniofacial injuries.

  1. Face off against ROS: Tcof1/Treacle safeguards neuroepithelial cells and progenitor neural crest cells from oxidative stress during craniofacial development.

    PubMed

    Sakai, Daisuke; Trainor, Paul A

    2016-09-01

    One-third of all congenital birth defects affect the head and face, and most craniofacial anomalies are considered to arise through defects in the development of cranial neural crest cells. Cranial neural crest cells give rise to the majority of craniofacial bones, cartilages and connective tissues. Therefore, understanding the events that control normal cranial neural crest and subsequent craniofacial development is important for elucidating the pathogenetic mechanisms of craniofacial anomalies and for the exploring potential therapeutic avenues for their prevention. Treacher Collins syndrome (TCS) is a congenital disorder characterized by severe craniofacial anomalies. An animal model of TCS, generated through mutation of Tcof1, the mouse (Mus musculus) homologue of the gene primarily mutated in association with TCS in humans, has recently revealed significant insights into the pathogenesis of TCS. Apoptotic elimination of neuroepithelial cells including neural crest cells is the primary cause of craniofacial defects in Tcof1 mutant embryos. However, our understanding of the mechanisms that induce tissue-specific apoptosis remains incomplete. In this review, we describe recent advances in our understanding of the pathogenesis TCS. Furthermore, we discuss the role of Tcof1 in normal embryonic development, the correlation between genetic and environmental factors on the severity of craniofacial abnormalities, and the prospect for prenatal prevention of craniofacial anomalies.

  2. Relationships between craniocervical posture and pain-related disability in patients with cervico-craniofacial pain

    PubMed Central

    López-de-Uralde-Villanueva, Ibai; Beltran-Alacreu, Hector; Paris-Alemany, Alba; Angulo-Díaz-Parreño, Santiago; La Touche, Roy

    2015-01-01

    Objectives This cross-sectional correlation study explored the relationships between craniocervical posture and pain-related disability in patients with chronic cervico-craniofacial pain (CCFP). Moreover, we investigated the test–retest intrarater reliability of two craniocervical posture measurements: head posture (HP) and the sternomental distance (SMD). Methods Fifty-three asymptomatic subjects and 60 CCFP patients were recruited. One rater measured HP and the SMD using a cervical range of motion device and a digital caliper, respectively. The Spanish versions of the neck disability index and the craniofacial pain and disability inventory were used to assess pain-related disability (neck disability and craniofacial disability, respectively). Results We found no statistically significant correlations between craniocervical posture and pain-related disability variables (HP and neck disability [r=0.105; P>0.05]; HP and craniofacial disability [r=0.132; P>0.05]; SMD and neck disability [r=0.126; P>0.05]; SMD and craniofacial disability [r=0.195; P>0.05]). A moderate positive correlation was observed between HP and SMD for both groups (asymptomatic subjects, r=0.447; CCFP patients, r=0.52). Neck disability was strongly positively correlated with craniofacial disability (r=0.79; P<0.001). The test–retest intrarater reliability of the HP measurement was high for asymptomatic subjects and CCFP patients (intraclass correlation coefficients =0.93 and 0.81, respectively) and for SMD (intra-class correlation coefficient range between 0.76 and 0.99); the test–retest intrarater reliability remained high when evaluated 9 days later. The HP standard error of measurement range was 0.54–0.75 cm, and the minimal detectable change was 1.27–1.74 cm. The SMD standard error of measurement was 2.75–6.24 mm, and the minimal detectable change was 6.42–14.55 mm. Independent t-tests showed statistically significant differences between the asymptomatic individuals and CCFP

  3. A computerized tomography study of the morphological interrelationship between the temporal bones and the craniofacial complex

    PubMed Central

    Costa, Helder Nunes; Slavicek, Rudolf; Sato, Sadao

    2012-01-01

    The hypothesis that the temporal bones are at the center of the dynamics of the craniofacial complex, directly influencing facial morphology, has been put forward long ago. This study examines the role of the spatial positioning of temporal bones (frontal and sagittal inclination) in terms of influencing overall facial morphology. Several 3D linear, angular and orthogonal measurements obtained through computerized analysis of virtual models of 163 modern human skulls reconstructed from cone-beam computed tomography images were analyzed and correlated. Additionally, the sample was divided into two subgroups based on the median value of temporal bone sagittal inclination [anterior rotation group (n = 82); posterior rotation group (n = 81)], and differences between groups evaluated. Correlation coefficients showed that sagittal inclination of the temporal bone was significantly (P < 0.01) related to midline flexion, transversal width and anterior–posterior length of the basicranium, to the anterior–posterior positioning of the mandible and maxilla, and posterior midfacial height. Frontal inclination of the temporal bone was significantly related (P < 0.01) to basicranium anterior–posterior and transversal dimensions, and to posterior midfacial height. In comparison with the posterior rotation group, the anterior rotation group presented a less flexed and anterior–posteriorly longer cranial base, a narrower skull, porion and the articular eminence located more superiorly and posteriorly, a shorter posterior midfacial height, the palatal plane rotated clockwise, a more retrognathic maxilla and mandible, and the upper posterior occlusal plane more inclined and posteriorly located. The results suggest that differences in craniofacial morphology are highly integrated with differences in the positional relationship of the temporal bones. The sagittal inclination of the temporal bone seems to have a greater impact on the 3D morphology of the craniofacial complex than

  4. Development of a behavioral assessment of craniofacial muscle pain in lightly anesthetized rats.

    PubMed

    Ro, Jin Y; Capra, Norman; Masri, Radi

    2003-07-01

    In this study, a new behavioral assessment of craniofacial muscle pain in the lightly anesthetized rat is described. Intramuscular injections with algesic agents in lightly anesthetized rats evoked a characteristic ipsilateral hindpaw shaking behavior for several minutes similar to previously described orofacial pain-induced grooming behavior in awake rats (Neurosci Lett 103 (1989) 349, Pain 62 (1995) 295). Eighty-two male Sprague-Dawley rats were used in a series of experiments to study whether this behavior could serve as a valid measure of craniofacial muscle pain. First, we demonstrated that different algesic chemicals, mustard oil (20%), formalin (3%) or hypertonic saline (5%) injected in the mid-region of the masseter muscle effectively elicited the hindpaw shaking behavior. The behavior was only minimally evoked with vehicle injection. Repeated administrations of hypertonic saline, a short duration non-sensitizing algogen, demonstrated reproducibility of the assay. Second, we showed that the peak and overall magnitude of the shaking behavior evoked by injections with different concentrations of mustard oil (1 and 5%) changed in a concentration dependent manner. Finally, we showed that systemic administration of morphine sulfate (3 and 0.3 mg/kg, i.p.) dose dependently attenuated mustard oil induced hindpaw-shaking behavior. Lidocaine injected locally 5 min prior to mustard oil injection also significantly decreased the hindpaw shaking behavior. Based on these results we concluded that ipsilateral hindpaw shaking in lightly anesthetized rats is a stereotypical behavior evoked by noxious muscle stimulation and can be used as a reliable behavioral measure to assess craniofacial muscle pain.

  5. Activation of rostral ventromedial medulla neurons by noxious stimulation of cutaneous and deep craniofacial tissues.

    PubMed

    Khasabov, Sergey G; Malecha, Patrick; Noack, Joseph; Tabakov, Janneta; Okamoto, Keiichiro; Bereiter, David A; Simone, Donald A

    2015-01-01

    The rostral ventromedial medulla (RVM) projects to the medullary and spinal dorsal horns and is a major source of descending modulation of nociceptive transmission. Traditionally, neurons in the RVM are classified functionally as on, off, and neutral cells on the basis of responses to noxious cutaneous stimulation of the tail or hind paw. On cells facilitate nociceptive transmission, off cells are inhibitory, whereas neutral cells are unresponsive to noxious stimuli and their role in pain modulation is unclear. Classification of RVM neurons with respect to stimulation of craniofacial tissues is not well defined. In isoflurane-anesthetized male rats, RVM neurons first were classified as on (25.5%), off (25.5%), or neutral (49%) cells by noxious pinch applied to the hind paw. Pinching the skin overlying the temporomandibular joint (TMJ) altered the proportions of on (39.2%), off (42.2%), and neutral (19.6%) cells. To assess the response of RVM cells to specialized craniofacial inputs, adenosine triphosphate (ATP; 0.01-1 mM) was injected into the TMJ and capsaicin (0.1%) was applied to the ocular surface. TMJ and ocular surface stimulation also resulted in a reduced proportion of neutral cells compared with hind paw pinch. Dose-effect analyses revealed that on and off cells encoded the intra-TMJ concentration of ATP. These results suggest that somatotopy plays a significant role in the functional classification of RVM cells and support the notion that neutral cells likely are subgroups of on and off cells. It is suggested that a portion of RVM neurons serve different functions in modulating craniofacial and spinal pain conditions.

  6. Adaptability of the adult primate craniofacial complex to asymmetrical lateral forces.

    PubMed

    Curtis, D A; Nielsen, I; Kapila, S; Miller, A J

    1991-09-01

    The adaptability of the adult craniofacial skeleton to altered functional relationships has been reported. An experimental quantification of these changes is lacking, however, and the possible underlying mechanisms of the alterations have not been explained. The purpose of this investigation was to evaluate the effect that lateral displacement of the mandible has on the dentoalveolar, craniofacial, and neuromuscular system in the adult rhesus monkey. Ten adult monkeys were studied; five served as controls, three were fitted with bilaterally inclined mandibular splints designed to deviate the mandible toward the left on closure, and two animals had flat splints to provide even occlusal contact. Pretreatment and posttreatment assessment of dentoalveolar and craniofacial change was made from mounted study casts, cephalometric head films, electromyograms and computed tomograms. Axial computed tomographic scans were used to evaluate potential changes in bone density at the lower part of the mandible, the condyle, the coronoid process, the neck of the condyle, and the zygomatic arch by means of a one-way analysis of variance. Changes in the measured variables were not observed in the control animals or in the animals with flat splints. Animals with inclined splints, however, demonstrated attrition and intrusion of maxillary molars and mild proclination of the maxillary incisors. Posttreatment computed tomographic scans in these animals showed significantly increased bone density in the right coronoid process (p less than 0.05) and bilaterally at the necks of the condyles (p less than 0.005). Resting electromyographic activity remained low and was not significantly different among the three groups.(ABSTRACT TRUNCATED AT 250 WORDS)

  7. Comparative gene expression analysis of avian embryonic facial structures reveals new candidates for human craniofacial disorders.

    PubMed

    Brugmann, S A; Powder, K E; Young, N M; Goodnough, L H; Hahn, S M; James, A W; Helms, J A; Lovett, M

    2010-03-01

    Mammals and birds have common embryological facial structures, and appear to employ the same molecular genetic developmental toolkit. We utilized natural variation found in bird beaks to investigate what genes drive vertebrate facial morphogenesis. We employed cross-species microarrays to describe the molecular genetic signatures, developmental signaling pathways and the spectrum of transcription factor (TF) gene expression changes that differ between cranial neural crest cells in the developing beaks of ducks, quails and chickens. Surprisingly, we observed that the neural crest cells established a species-specific TF gene expression profile that predates morphological differences between the species. A total of 232 genes were differentially expressed between the three species. Twenty-two of these genes, including Fgfr2, Jagged2, Msx2, Satb2 and Tgfb3, have been previously implicated in a variety of mammalian craniofacial defects. Seventy-two of the differentially expressed genes overlap with un-cloned loci for human craniofacial disorders, suggesting that our data will provide a valuable candidate gene resource for human craniofacial genetics. The most dramatic changes between species were in the Wnt signaling pathway, including a 20-fold up-regulation of Dkk2, Fzd1 and Wnt1 in the duck compared with the other two species. We functionally validated these changes by demonstrating that spatial domains of Wnt activity differ in avian beaks, and that Wnt signals regulate Bmp pathway activity and promote regional growth in facial prominences. This study is the first of its kind, extending on previous work in Darwin's finches and provides the first large-scale insights into cross-species facial morphogenesis.

  8. Activation of rostral ventromedial medulla neurons by noxious stimulation of cutaneous and deep craniofacial tissues

    PubMed Central

    Khasabov, Sergey G.; Malecha, Patrick; Noack, Joseph; Tabakov, Janneta; Okamoto, Keiichiro; Bereiter, David A.

    2014-01-01

    The rostral ventromedial medulla (RVM) projects to the medullary and spinal dorsal horns and is a major source of descending modulation of nociceptive transmission. Traditionally, neurons in the RVM are classified functionally as ON, OFF, and NEUTRAL cells on the basis of responses to noxious cutaneous stimulation of the tail or hind paw. ON cells facilitate nociceptive transmission, OFF cells are inhibitory, whereas NEUTRAL cells are unresponsive to noxious stimuli and their role in pain modulation is unclear. Classification of RVM neurons with respect to stimulation of craniofacial tissues is not well defined. In isoflurane-anesthetized male rats, RVM neurons first were classified as ON (25.5%), OFF (25.5%), or NEUTRAL (49%) cells by noxious pinch applied to the hind paw. Pinching the skin overlying the temporomandibular joint (TMJ) altered the proportions of ON (39.2%), OFF (42.2%), and NEUTRAL (19.6%) cells. To assess the response of RVM cells to specialized craniofacial inputs, adenosine triphosphate (ATP; 0.01–1 mM) was injected into the TMJ and capsaicin (0.1%) was applied to the ocular surface. TMJ and ocular surface stimulation also resulted in a reduced proportion of NEUTRAL cells compared with hind paw pinch. Dose-effect analyses revealed that ON and OFF cells encoded the intra-TMJ concentration of ATP. These results suggest that somatotopy plays a significant role in the functional classification of RVM cells and support the notion that NEUTRAL cells likely are subgroups of ON and OFF cells. It is suggested that a portion of RVM neurons serve different functions in modulating craniofacial and spinal pain conditions. PMID:25185804

  9. Long-term results following reconstruction of craniofacial defects with titanium micro-mesh systems.

    PubMed

    Kuttenberger, Johannes J.; Hardt, Nicolas

    2001-04-01

    Introduction: Reconstruction of craniofacial defects can be carried out with autogenous tissue (calvarium, rib, iliac crest), allogeneic implants (AAA-bone, lyophilized cartilage) or alloplastic material (methacrylate, hydroxyapatite, titanium implants and mesh systems). Selection of the implant material used for reconstruction is still controversial. Material and Methods: At the Department of Oral and Maxillofacial Surgery, Kantonsspital Luzern, 20 patients with defects in the craniofacial and/or orbito-ethmoidal region have been treated using titanium micro-mesh between 1991 and 1998. Two different mesh systems, micro-titanium augmentation mesh and dynamic mesh, have been used for bony reconstruction in non load-bearing areas. The defects were caused by acute trauma, osteomyelitis of the frontal bone and previous operations. The titanium micro-mesh was used with the following indications: (1) immediate reconstruction in the primary treatment of comminuted fractures with bone loss in non load-bearing areas, (2) treatment of contour irregularities (possibly in combination with bone or cartilage grafts). All patients were followed up clinically and radiographically at quarterly intervals for a year. Results: No wound infections, exposures or loss of the mesh have been observed. Long-term stability of the reconstructions was excellent. When walls of the paranasal sinuses were reconstructed complete repneumatisation took place. Conclusions: Advantages of this reconstructive technique are: (1) universal applicability (craniofacial, orbital, sinus defects, comminuted fractures); (2) stable 3-D reconstruction of complex anatomic structures were easily performed; (3) immediate availability with no donor site morbidity as bone or cartilage grafts were not necessary; (4) combination with bone or cartilage grafts is possible; and (5) very low susceptibility to infection. Copyright 2001 European Association for Cranio-Maxillofacial Surgery.

  10. DSPP Is Essential for Normal Development of the Dental-Craniofacial Complex

    PubMed Central

    Chen, Y.; Zhang, Y.; Ramachandran, A.; George, A.

    2015-01-01

    The craniofacial skeleton is derived from both neural crest cells and mesodermal cells; however, the majority of the bone, cartilage, and connective tissue is derived from the neural crest. Dentin sialophosphoprotein (DSPP) is a precursor protein that is expressed by the connective tissues of the craniofacial skeleton, namely, bone and dentin with high expression levels in the dentin matrix. Gene ablation studies have shown severe dental defects in DSPP-null mutant mice. Therefore, to elucidate the role of DSPP on the developing dental-craniofacial complex, we evaluated phenotypic changes in the structure of intramembranous bone and dentin mineralization using 3 different age groups of DSPP-null and wild-type mice. Results from micro–computed tomographic, radiographic, and optical microscopic analyses showed defective dentin, alveolar and calvarial bones, and sutures during development. The impaired mineralization of the cranial bone correlated well with low expression levels of Runx2, Col1, and OPN identified using calvarial cells from DSPP-null and wild-type mice in an in vitro culture system. However, the upregulation of MMP9, MMP2, FN, and BSP was observed. Interestingly, the null mice also displayed low serum phosphate levels, while calcium levels remained unchanged. Alizarin red and von Kossa staining confirmed the dysfunction in the terminal differentiation of osteoblasts obtained from the developing calvaria of DSPP-null mice. Immunohistochemical analysis of the developing molars showed changes in Runx2, Gli1, Numb, and Notch expression in the dental pulp cells and odontoblasts of DSPP-null mice when compared with wild-type mice. Overall, these observations provide insight into the role of DSPP in the normal development of the calvaria, alveolar bone, and dentin-pulp complex. PMID:26503913

  11. Exclusion of the PAX2 gene as a candidate gene for Crouzon craniofacial dysostosis

    SciTech Connect

    Preston, R.A.; Gorry, M.C.; Warman, M.

    1994-09-01

    Crouzon craniofacial dysostosis (CFD, MIM 123500) is an abnormality of craniofacial development characterized by premature craniosynostosis, maxillary hypoplasia, and shallow orbits. We have mapped the CFD gene locus using a candidate gene approach to a 7 centiMorgan region on chromosome 10q in three CFD families. A maximal multipoint LOD score of 12.33 was achieved for a locus 2 cM distal to the microsatellite marker D10S209. A comparison of several physical, cytogenetic, and linkage maps revealed that the cytogenetic bands, 10q25-q26, most likely contain this CFD locus. The PAX2 gene, which has been mapped near another marker which in turn has been mapped to 10q25, was analyzed as a candidate gene. PAX2 was chosen for analysis because mutations in other members of the PAX gene family have been identified with human craniofacial abnormalities (e.g. Waardenburg syndrome). A YAC contig, consisting of 5 overlapping groups and composed of 11 YACs that spans the entire 7 cM region, was assembled for PAX2 analyses. None of these YACs supported PAX2-specific amplification using primer sets for both the second and third PAX2 exons. Control amplifications for YAC vector sequences produced robust amplifications in all cases. In addition, SSCP analyses of amplification products generated from the second and third PAX2 exons and the 3{prime} untranslated region of the PAX2 gene from both affected and unaffected family members in two of the kindreds failed to reveal any polymorphisms. Although it remains theoretically possible, due to artifacts in the YAC contigs, it is unlikely that PAX2 is the CFD gene.

  12. Relationship between BMI and Postoperative Complications with Free Flap in Anterolateral Craniofacial Reconstruction

    PubMed Central

    Yagi, Shunjiro; Toriyama, Kazuhiro; Takanari, Keisuke; Fujimoto, Yasushi; Nishio, Naoki; Fujii, Masazumi; Saito, Kiyoshi; Takahashi, Masakatsu; Kamei, Yuzuru

    2016-01-01

    Background: Although we have seen tremendous advancement in microsurgery over the last 2 decades and free tissue transfer has become standard for head and neck reconstruction, surgeons still struggle to prevent postoperative complications. We examined the relationship between body mass index (BMI) and postoperative complications in patients undergoing rectus abdominis free flap transfer after anterolateral craniofacial resection. Methods: This was a retrospective review of reconstructive surgery using rectus abdominis musculocutaneous free flap in patients with locally advanced maxillary sinus carcinoma from 2003 to 2014 (n = 35, 27 men and 8 women; average age, 60.9 ± 7.8 years). All patients underwent craniofacial reconstruction after anterior and middle cranial fossa skull base resection and maxillectomy (class IV, subtype a) with palatal resection. Patients were categorized based on sex, BMI, and other parameters. Results: Recipient-site infection occurred in 11 patients (31.4%), cerebrospinal fluid leakage in 6 (17.1%), partial flap necrosis in 2 (5.7%), total flap necrosis in 1 (2.9%), and facial fistula in 4 (11.4%). Women showed partial flap necrosis significantly more frequently (P = 0.047), probably owing to poor vascular supply of the subcutaneous fat layer. Patients with low BMI (<20 kg/m2) showed recipient-site infection (P = 0.02) and facial fistula (P = 0.01) significantly more frequently owing to insufficient tissue volume and poor vascular supply. Conclusion: Postoperative recipient-site infection and facial fistula occurred mainly in low-BMI patients. Surgeons should take care to achieve sufficient donor tissue on low-BMI patients. Using a prosthetic obturator in low-BMI patients for craniofacial reconstruction can be a good alternative option to reduce postoperative complications due to insufficient donor tissue volume. PMID:27257566

  13. Craniofacial fibrous dysplasia Report of a case with diverse radiological spectrum

    PubMed Central

    Punyani, Silky Rajesh; Srivastava, Saurabh; Jasuja, Vishal Ramesh

    2016-01-01

    Summary A young male of Asian-Indian ethnicity reported with a complaint of a painless, slow growing swelling over the left side of lower jaw. A thorough clinical history was taken and detailed radiological exam performed. The conventional radiographic examination revealed a mixed radiolucent-radiopaque lesion with unique appearances on different radiographs. Additional computed tomographic examination discovered the involvement of several bones in the skull base. Subsequent to histopathological confirmation a final diagnosis of craniofacial fibrous dysplasia was made. This case is particularly unique and of didactic importance as well because the various textbook descriptions for radiological appearances of fibrous dysplasia were found in the same case. PMID:28228793

  14. Craniofacial/Neurosurgery: a multidisciplinary approach to the repair of meningoencephaloceles in a third world country.

    PubMed

    Hack, Judith; Pieper, Daniel

    2011-08-01

    The repair of meningoencephaloceles in a third world country does not have to be an unrealized goal. Utilizing a team of specialized experienced physicians to provide the treatment, patient selection, comprehensive planning for all surgical variability, and cooperative management of the patients postoperatively with the hosting physicians is essential to the success of these surgeries. In 2007, a team of physicians, including a neurosurgeon, a craniofacial surgeon, a neurosurgical resident, and nursing personnel, traveled for the first time to Davao, in the Philippines, to repair and reconstruct four patients with meningoencephalocele. The planning, surgical approach, and outcome of the repair of this defect are discussed in this article.

  15. Emerging developments in the use of bioactive glass for reconstruction of craniofacial bone.

    PubMed

    Profeta, A C

    2015-10-01

    For decades, researchers have investigated the use of bioactive glasses as synthetic substitutes for bone grafts that can bond with bone, and recent discoveries have shown that their clinical performance in osteoplastic and reconstructive surgery has exceeded that of traditional synthetic materials. Craniofacial reconstructions with bioactive glass were associated with good functional and aesthetic results with no donor-site morbidity, and the material's unique ability to inhibit bacterial growth was advantageous when used in dead spaces that were chronically infected. Treatment of large defects in the head and neck with these multifunctional biomaterials is a suitable alternative to conventional methods.

  16. Mineralization defects in cementum and craniofacial bone from loss of bone sialoprotein

    PubMed Central

    Foster, B.L.; Ao, M.; Willoughby, C.; Soenjaya, Y.; Holm, E.; Lukashova, L.; Tran, A. B.; Wimer, H.F.; Zerfas, P.M.; Nociti, F.H.; Kantovitz, K.R.; Quan, B.D.; Sone, E.D.; Goldberg, H.A.; Somerman, M.J.

    2015-01-01

    Bone sialoprotein (BSP) is a multifunctional extracellular matrix protein found in mineralized tissues, including bone, cartilage, tooth root cementum (both acellular and cellular types), and dentin. In order to define the role BSP plays in the process of biomineralization of these tissues, we analyzed cementogenesis, dentinogenesis, and osteogenesis (intramembranous and endochondral) in craniofacial bone in Bsp null mice and wild-type (WT) controls over a developmental period (1-60 days post natal; dpn) by histology, immunohistochemistry, undecalcified histochemistry, microcomputed tomography (microCT), scanning electron microscopy (SEM), transmission electron microscopy (TEM), and quantitative PCR (qPCR). Regions of intramembranous ossification in the alveolus, mandible, and calvaria presented delayed mineralization and osteoid accumulation, assessed by von Kossa and Goldner's trichrome stains at 1 and 14 dpn. Moreover, Bsp−/− mice featured increased cranial suture size at the early time point, 1 dpn. Immunostaining and PCR demonstrated that osteoblast markers, osterix, alkaline phosphatase, and osteopontin were unchanged in Bsp null mandibles compared to WT. Bsp−/− mouse molars featured a lack of functional acellular cementum formation by histology, SEM, and TEM, and subsequent loss of Sharpey's collagen fiber insertion into the tooth root structure. Bsp−/− mouse alveolar and mandibular bone featured equivalent or fewer osteoclasts at early ages (1 and 14 dpn), however, increased RANKL immunostaining and mRNA, and significantly increased number of osteoclast-like cells (2-5 fold) were found at later ages (26 and 60 dpn), corresponding to periodontal breakdown and severe alveolar bone resorption observed following molar teeth entering occlusion. Dentin formation was unperturbed in Bsp−/− mouse molars, with no delay in mineralization, no alteration in dentin dimensions, and no differences in odontoblast markers analyzed. No defects were identified

  17. Type III Klippel-Feil syndrome: case report and review of associated craniofacial anomalies.

    PubMed

    Naikmasur, Venkatesh G; Sattur, Atul P; Kirty, R N; Thakur, Arpita Rai

    2011-07-01

    Klippel-Feil syndrome (KFS) is a complex syndrome of osseous and visceral anomalies that include the classical clinical triad of short neck, limitation of head and neck movements and low posterior hairline. It may also be associated with anomalies of the genitourinary, musculoskeletal, neurologic and cardiac systems. We report a case of type III KFS with associated rib anomalies such as cervical rib, fusion and bifid ribs, scoliosis and fused crossed renal ectopia. The aim of this paper was to summarize all craniofacial anomalies that occur in association with KFS, so that clinicians would be aware of them during diagnosis and treatment planning.

  18. Shape-based approach for the estimation of individual facial mimics in craniofacial surgery planning

    NASA Astrophysics Data System (ADS)

    Gladilin, Evgeny; Zachow, Stefan; Deuflhard, Peter; Hege, Hans-Christian

    2002-05-01

    Besides the static soft tissue prediction, the estimation of basic facial emotion expressions is another important criterion for the evaluation of craniofacial surgery planning. For a realistic simulation of facial mimics, an adequate biomechanical model of soft tissue including the mimic musculature is needed. In this work, we present an approach for the modeling of arbitrarily shaped muscles and the estimation of basic individual facial mimics, which is based on the geometrical model derived from the individual tomographic data and the general finite element modeling of soft tissue biomechanics.

  19. The relationship of bruxism with craniofacial pain and symptoms from the masticatory system in the adult population.

    PubMed

    Ciancaglini, R; Gherlone, E F; Radaelli, G

    2001-09-01

    The association of bruxism with craniofacial pain and symptoms of dysfunction of the masticatory system was assessed in a sample of 483 adult subjects, aged 18-75 years and selected from the general population living in the municipality of Segrate, a metropolitan area in northern Italy. Subjects were interviewed by a questionnaire about oral conditions, occurrence of symptoms of masticatory disturbances, craniofacial and neck pain. The overall prevalence of bruxism was 31;4% (95% confidence interval (CI): 27;3-35;5%). At univariate analysis bruxism was significantly associated with craniofacial pain, difficulty in closing the mouth, difficulty in opening the mouth wide or in locking the mouth, temporomandibular joint sounds, pain on movement, a feeling of stiffness or fatigue of the jaws, and neck pain. After adjustment for reciprocal influences and confounding variables, logistic regression analysis disclosed a strong independent association of bruxism with difficulty in closing the mouth (adjusted odds ratio, (OR): 2;84, 95% CI: 1;68-4;48), and a weaker relationship with craniofacial pain (adjusted OR: 1;84, 95% CI: 1;16-2;93) and temporomandibular joint sounds (adjusted OR: 1;64, 95% CI: 1;00-2;69). The findings show that in the general adult population there is a complex connection among bruxism, craniofacial pain and symptoms of masticatory disturbances. Furthermore, they suggest that the most direct relationship of bruxism may be with difficulties in mouth movements, but also an independent association may exist with craniofacial pain and other symptoms of temporomandibular disorder.

  20. Skeletal and body composition evaluation

    NASA Technical Reports Server (NTRS)

    Mazess, R. B.

    1983-01-01

    Research on radiation detectors for absorptiometry; analysis of errors affective single photon absorptiometry and development of instrumentation; analysis of errors affecting dual photon absorptiometry and development of instrumentation; comparison of skeletal measurements with other techniques; cooperation with NASA projects for skeletal evaluation in spaceflight (Experiment MO-78) and in laboratory studies with immobilized animals; studies of postmenopausal osteoporosis; organization of scientific meetings and workshops on absorptiometric measurement; and development of instrumentation for measurement of fluid shifts in the human body were performed. Instrumentation was developed that allows accurate and precise (2% error) measurements of mineral content in compact and trabecular bone and of the total skeleton. Instrumentation was also developed to measure fluid shifts in the extremities. Radiation exposure with those procedures is low (2-10 MREM). One hundred seventy three technical reports and one hundred and four published papers of studies from the University of Wisconsin Bone Mineral Lab are listed.

  1. The complexities of skeletal biology

    NASA Technical Reports Server (NTRS)

    Karsenty, Gerard

    2003-01-01

    For a long time, the skeleton was seen as an amorphous tissue of little biological interest. But such a view ignored the large number of genetic and degenerative diseases affecting this organ. Over the past 15 years, molecular and genetic studies have modified our understanding of skeletal biology. By so doing this progress has affected our understanding of diseases and suggested in many instances new therapeutic opportunities.

  2. Skeletal manifestations of bear scavenging.

    PubMed

    Carson, E A; Stefan, V H; Powell, J F

    2000-05-01

    In many partially or fully skeletonized forensic cases, postmortem animal damage is simply attributed to rodents or carnivores; little effort is made to determine the general size or assign a genus to the scavenger. As one of the largest wild carnivores to inhabit mountainous and forested areas throughout the continental United States, Alaska, and Canada, black bears (Ursus americanus) must be considered possible suspects when skeletonized remains are located showing marks of carnivore damage. Since 1995, three cases of known bear scavenging have been referred to the Maxwell Museum's Laboratory of Human Osteology by the New Mexico Office of the Medical Investigator for skeletal analysis. These cases comprise a total of seven individuals, and all of the remains were deposited in high altitude forests of New Mexico along the western border with Arizona with a minimum of 4 months exposure before recovery. When analyzed, all cases shared a similar pattern of element survivorship and damage. We suggest that bears can be distinguished from members of the canid family, the other common scavenger of human remains, based on the representation of skeletal elements at the scene. Rates and patterns of damage are not as accurate as element recovery in the discrimination of scavenger genus. Use of this information should allow forensic anthropologists to better understand the postmortem taphonomic processes that shaped the skeletal remains, and hopefully prevent misdiagnoses of perimortem trauma on elements not typically scavenged by canids.

  3. Occipital nerve block is effective in craniofacial neuralgias but not in idiopathic persistent facial pain.

    PubMed

    Jürgens, T P; Müller, P; Seedorf, H; Regelsberger, J; May, A

    2012-04-01

    Occipital nerve block (ONB) has been used in several primary headache syndromes with good results. Information on its effects in facial pain is sparse. In this chart review, the efficacy of ONB using lidocaine and dexamethasone was evaluated in 20 patients with craniofacial pain syndromes comprising 8 patients with trigeminal neuralgia, 6 with trigeminal neuropathic pain, 5 with persistent idiopathic facial pain and 1 with occipital neuralgia. Response was defined as an at least 50% reduction of original pain. Mean response rate was 55% with greatest efficacy in trigeminal (75%) and occipital neuralgia (100%) and less efficacy in trigeminal neuropathic pain (50%) and persistent idiopathic facial pain (20%). The effects lasted for an average of 27 days with sustained benefits for 69, 77 and 107 days in three patients. Side effects were reported in 50%, albeit transient and mild in nature. ONBs are effective in trigeminal pain involving the second and third branch and seem to be most effective in craniofacial neuralgias. They should be considered in facial pain before more invasive approaches, such as thermocoagulation or vascular decompression, are performed, given that side effects are mild and the procedure is minimally invasive.

  4. Masseter thickness, endurance and exercise-induced pain in subjects with different vertical craniofacial morphology.

    PubMed

    Farella, Mauro; Bakke, Merete; Michelotti, Ambra; Rapuano, Alessia; Martina, Roberto

    2003-06-01

    The aim of the study was to compare neuromuscular features of the masseter muscle in subjects with different vertical craniofacial morphology. Fifteen short-faced (mandibular plane-Frankfurt plane angle < 15 degrees) and 15 normal- to long-faced (mandibular plane-Frankfurt plane angle > or = 23 degrees) male students participated. The thickness of the masseter was assessed by ultrasonography. Onset and endurance of exercise pain were recorded during sustained biting at a level of 15% of maximum voluntary contraction and 30 micro V electromyographic activity. Pain and fatigue was measured on visual analog scales before and after the biting, as well as before and after 10 min chewing. Statistical comparison showed that the masseter muscle was significantly thicker (+15%) in the short-faced than the normal- to long-faced subjects. The pain onset time and endurance time were also consistently shorter in short-faced subjects, whereas the intensity of pain and fatigue did not differ significantly between the two groups. Multiple stepwise regression showed positive influence from the mandibular plane inclination and the masseter thickness on the pain onset time and endurance time. The present findings support the concept that subjects with different craniofacial morphology show neuromuscular differences.

  5. Diffuse noxious inhibitory control evoked by tonic craniofacial pain in humans.

    PubMed

    Sowman, P F; Wang, K; Svensson, P; Arendt-Nielsen, L

    2011-02-01

    Tonic pain in one body segment can inhibit the perception of pain in another body segment. This phenomenon is mediated by diffuse noxious inhibitory controls (DNIC), and its efficacy in craniofacial regions is investigated in this study. A compressive device that evoked a tonic, moderate/severe, headache-like, conditioning pain (∼8/10 on a visual analogue scale) was applied for 15min. Eleven males participated in the study. Pressure pain threshold (PPT) and pressure pain tolerance (PPTol) at multiple heterosegmental body sites (right masseter, splenius capitis, second intermediate phalange, brachioradialis and tibialis anterior) were measured before, during and at multiple time points (5, 20 and 35min) after the termination of the conditioning pain. PPTs and PPTols were compared within participants across two experimental sessions; one that included painful conditioning stimulation, and a separate control session on a different day. Painful conditioning increased PPT significantly during pain over the masseter (p<0.05) and over the tibialis anterior (p<0.01). PPTol was unchanged. In the period after the painful conditioning stimulation PPT was depressed compared to control. This study shows that pain evoked from the craniofacial region evokes DNIC-like mechanisms on segmental as well as heterosegmental sites.

  6. Surgical management of Eagle's syndrome: an approach to shooting craniofacial pain.

    PubMed

    Kumai, Yoshihiko; Hamasaki, Tadashi; Yumoto, Eiji

    2016-10-01

    Eagle's syndrome (ES) and glossopharyngeal neuralgia (GPN) display very similar symptoms preoperatively. The objective of this study is to determine the surgical outcome of intraoral resection of the styloid process (IRSP) for ES, and to observe preoperative findings and treatment outcome of our cases presenting shooting craniofacial pain. In total, 14 symptomatic patients who presented with typical shooting craniofacial pain, had a styloid process longer than 25 mm, and underwent surgical intervention or medication alone from 2011 to 2015 were involved. They were divided into two groups: Group I included eight patients who underwent surgery following 3 months of medication failure, and Group II included six patients who received medication alone. Preoperative physical, radiographic findings and surgical outcomes were examined. In Group I patients, six cases received IRSP and five of those six cases experienced complete relief from symptoms and were confirmed as ES. Two other cases in Group I received microvascular decompression. One showed complete relief from symptoms, and was confirmed as GPN. The other case showed recurrence 1 year postoperatively, received IRSP with complete relief from symptoms, and was confirmed as ES. In Group II, three cases experienced complete relief from symptoms with 3 months of medication alone. IRSP is an effective treatment for ES. There was no clear difference in the preoperative findings for ES and GPN, suggesting the difficulty in making a preoperative differential diagnosis between the two conditions. Close cooperation between ENT and neurosurgery surgeons is needed.

  7. A microdeletion encompassing PHF21A in an individual with global developmental delay and craniofacial anomalies.

    PubMed

    Labonne, Jonathan D J; Vogt, Julie; Reali, Lisa; Kong, Il-Keun; Layman, Lawrence C; Kim, Hyung-Goo

    2015-12-01

    In Potocki-Shaffer syndrome (PSS), the full phenotypic spectrum is manifested when deletions are at least 2.1 Mb in size at 11p11.2. The PSS-associated genes EXT2 and ALX4, together with PHF21A, all map to this region flanked by markers D11S1393 and D11S1319. Being proximal to EXT2 and ALX4, a 1.1 Mb region containing 12 annotated genes had been identified by deletion mapping to explain PSS phenotypes except multiple exostoses and parietal foramina. Here, we report a male patient with partial PSS phenotypes including global developmental delay, craniofacial anomalies, minor limb anomalies, and micropenis. Using microarray, qPCR, RT-qPCR, and Western blot analyses, we refined the candidate gene region, which harbors five genes, by excluding two genes, SLC35C1 and CRY2, which resulted in a corroborating role of PHF21A in developmental delay and craniofacial anomalies. This microdeletion contains the least number of genes at 11p11.2 reported to date. Additionally, we also discuss the phenotypes observed in our patient with respect to those of published cases of microdeletions across the Potocki-Shaffer interval.

  8. The questionable contribution of the Neolithic and the Bronze Age to European craniofacial form

    PubMed Central

    Brace, C. Loring; Seguchi, Noriko; Quintyn, Conrad B.; Fox, Sherry C.; Nelson, A. Russell; Manolis, Sotiris K.; Qifeng, Pan

    2006-01-01

    Many human craniofacial dimensions are largely of neutral adaptive significance, and an analysis of their variation can serve as an indication of the extent to which any given population is genetically related to or differs from any other. When 24 craniofacial measurements of a series of human populations are used to generate neighbor-joining dendrograms, it is no surprise that all modern European groups, ranging all of the way from Scandinavia to eastern Europe and throughout the Mediterranean to the Middle East, show that they are closely related to each other. The surprise is that the Neolithic peoples of Europe and their Bronze Age successors are not closely related to the modern inhabitants, although the prehistoric/modern ties are somewhat more apparent in southern Europe. It is a further surprise that the Epipalaeolithic Natufian of Israel from whom the Neolithic realm was assumed to arise has a clear link to Sub-Saharan Africa. Basques and Canary Islanders are clearly associated with modern Europeans. When canonical variates are plotted, neither sample ties in with Cro-Magnon as was once suggested. The data treated here support the idea that the Neolithic moved out of the Near East into the circum-Mediterranean areas and Europe by a process of demic diffusion but that subsequently the in situ residents of those areas, derived from the Late Pleistocene inhabitants, absorbed both the agricultural life way and the people who had brought it. PMID:16371462

  9. Craniofacial Ciliopathies Reveal Specific Requirements for GLI Proteins during Development of the Facial Midline

    PubMed Central

    Chang, Ching-Fang; Brugmann, Samantha A.

    2016-01-01

    Ciliopathies represent a broad class of disorders that affect multiple organ systems. The craniofacial complex is among those most severely affected when primary cilia are not functional. We previously reported that loss of primary cilia on cranial neural crest cells, via a conditional knockout of the intraflagellar transport protein KIF3a, resulted in midfacial widening due to a gain of Hedgehog (HH) activity. Here, we examine the molecular mechanism of how a loss of primary cilia can produce facial phenotypes associated with a gain of HH function. We show that loss of intraflagellar transport proteins (KIF3a or IFT88) caused aberrant GLI processing such that the amount of GLI3FL and GLI2FL was increased, thus skewing the ratio of GLIFL to GLIR in favor of the FL isoform. Genetic addition of GLI3R partially rescued the ciliopathic midfacial widening. Interestingly, despite several previous studies suggesting midfacial development relies heavily on GLI3R activity, the conditional loss of GLI3 alone did not reproduce the ciliopathic phenotype. Only the combined loss of both GLI2 and GLI3 was able to phenocopy the ciliopathic midfacial appearance. Our findings suggest that ciliopathic facial phenotypes are generated via loss of both GLI3R and GLI2R and that this pathology occurs via a de-repression mechanism. Furthermore, these studies suggest a novel role for GLI2R in craniofacial development. PMID:27802276

  10. Feeding issues and interventions in infants and children with clefts and craniofacial syndromes.

    PubMed

    Miller, Claire K

    2011-05-01

    Problems with oral feeding occur in varying degrees in infants born with cleft lip/palate and/or craniofacial syndromes. The extent of clefting is associated with the severity of feeding problems, and if cleft lip/palate occurs in conjunction with a craniofacial syndrome, additional structural, airway, and neuromotor issues may be present. The infant's feeding and swallowing skills may be significantly impaired, characterized by inefficient oral feeding skills coupled with poor airway protection ability during swallowing. Inadequate airway protection during swallowing has serious implications for the infant's respiratory health as sequelae of chronic aspiration during feeding may include recurrent respiratory illness, pneumonia, and lung damage. Feeding difficulty in nonsyndromic and syndromic cleft lip/palate infants has been documented as source of considerable stress for parents and can have a potential negative effect on the parent-infant bonding process. Therefore, timely identification of feeding problems by the speech pathologist with subsequent intervention and modification in the feeding method is essential, along with provision of early feeding instruction to families. The objective of this article is to review expert opinion and available evidence regarding factors that influence feeding success and efficiency in infants with nonsyndromic and syndromic cleft lip/palate. The types of compensatory strategies or interventions that are effective in alleviation of feeding and swallowing difficulties will be described. Descriptive reports, expert opinion, and available evidence from clinical trials to support the use of feeding interventions in treatment are reviewed.

  11. Craniofacial structures and dental development in three patients with Nager syndrome.

    PubMed

    Halonen, Katri; Hukki, Jyri; Arte, Sirpa; Hurmerinta, Kirsti

    2006-11-01

    In Finland, 3 patients have been diagnosed with Nager syndrome (NS) during the last 17 years. Thus the incidence for NS in Finland is 3:1,000,000. The craniofacial structures and dental development of these patients were studied clinically and radiographically at the age of 3-4 years, and compared to age-matched controls and to the norms of the Finnish population. The striking structural finding was a severely short, retrognathic and posteriorly rotated mandible. Especially the ramus was deficient; its height was, on average, less than one-third of that of the control group. All children were tracheostomized neonatally. At the age of 3-4, the lower pharyngeal airway was still severely obstructed or completely closed. Nasopharyngeal airway was wide and the soft palate was missing in all patients. All patients had a complete deciduous dentition, but agenesis of permanent teeth (ranging from 2-10 missing teeth) was observed in each patient. Accelerated dental development was found in two subjects. Condylar ankylosis or severely limited mouth opening were observed. The present findings give new information and quantify earlier observations of craniofacial structures and dental development in NS. Analysis of facial structures suggests that if surgical intervention is needed to enable better breathing, the goal of the structural correction should be aimed at the most deficient structure, namely the ramus height. As a result of severe dentofacial deviation, a treatment process through the growth requires multidisciplinary teamwork of surgeons, pediatrists, orthodontists and prosthodontists.

  12. Craniofacial characteristics and velopharyngeal function in cleft lip/palate children with and without adenoidectomy.

    PubMed

    Pulkkinen, Joonas; Ranta, Reijo; Heliövaara, Arja; Haapanen, Marja-Leena

    2002-02-01

    The association between velopharyngeal function, craniofacial morphology and adenoidectomy was investigated using 27 craniofacial and nasopharyngeal variables taken from lateral cephalograms. The sample consisted of 96 boys with cleft palates with or without cleft lips. They were examined at 6 years of age when cephalograms were obtained and perceptual speech assessments were performed. The subjects were divided into three groups: (1) velopharyngeal competence (VPC, n = 45); (2) mild incompetence not requiring velopharyngoplasty (VPI, n = 36); and (3) previous incompetence operated on with velopharyngoplasty ad modum Hoenig (VPP, n = 15) before the 6-year examination. The groups were further divided into two subgroups according to previous adenoidectomy (Ad+, Ad-). The cranial base, size and interrelationship of the maxilla and mandible and their relationship to the cranial base or the bony nasopharynx did not differ among the VPC, VPI and VPP groups. The sagittal depth of the nasopharyngeal airway (Pm-ad1, Pm-ad2, Pm-ad3) was significantly wider in the VPP group than in the the VPC and VPI groups. The previous adenoidectomy decreased the thickness of the posterior pharyngeal wall (ad1-Ba, ad2-so) and thus increased airway size. The length of the velum did not differ between the three groups or their subgroups with and without adenoidectomy. The results showed that adenoidectomy is a risk to velopharyngeal function by widening the nasal airway, but velopharyngeal incompetence cannot definitely be attributed to adenoidectomy.

  13. Genome-wide association study identifies multiple susceptibility loci for craniofacial microsomia

    PubMed Central

    Zhang, Yong-Biao; Hu, Jintian; Zhang, Jiao; Zhou, Xu; Li, Xin; Gu, Chaohao; Liu, Tun; Xie, Yangchun; Liu, Jiqiang; Gu, Mingliang; Wang, Panpan; Wu, Tingting; Qian, Jin; Wang, Yue; Dong, Xiaoqun; Yu, Jun; Zhang, Qingguo

    2016-01-01

    Craniofacial microsomia (CFM) is a rare congenital anomaly that involves immature derivatives from the first and second pharyngeal arches. The genetic pathogenesis of CFM is still unclear. Here we interrogate 0.9 million genetic variants in 939 CFM cases and 2,012 controls from China. After genotyping of an additional 443 cases and 1,669 controls, we identify 8 significantly associated loci with the most significant SNP rs13089920 (logistic regression P=2.15 × 10−120) and 5 suggestive loci. The above 13 associated loci, harboured by candidates of ROBO1, GATA3, GBX2, FGF3, NRP2, EDNRB, SHROOM3, SEMA7A, PLCD3, KLF12 and EPAS1, are found to be enriched for genes involved in neural crest cell (NCC) development and vasculogenesis. We then perform whole-genome sequencing on 21 samples from the case cohort, and identify several novel loss-of-function mutations within the associated loci. Our results provide new insights into genetic background of craniofacial microsomia. PMID:26853712

  14. Angiogenic and Osteogenic Potential of Bone Repair Cells for Craniofacial Regeneration

    PubMed Central

    Pagni, Giorgio; Park, Chan-Ho; Tarle, Susan A.; Bartel, Ronnda L.; Giannobile, William V.

    2010-01-01

    There has been increased interest in the therapeutic potential of bone marrow derived cells for tissue engineering applications. Bone repair cells (BRCs) represent a unique cell population generated via an ex vivo, closed-system, automated cell expansion process, to drive the propagation of highly osteogenic and angiogenic cells for bone engineering applications. The aims of this study were (1) to evaluate the in vitro osteogenic and angiogenic potential of BRCs, and (2) to evaluate the bone and vascular regenerative potential of BRCs in a craniofacial clinical application. BRCs were produced from bone marrow aspirates and their phenotypes and multipotent potential characterized. Flow cytometry demonstrated that BRCs were enriched for mesenchymal and vascular phenotypes. Alkaline phosphatase and von Kossa staining were performed to assess osteogenic differentiation, and reverse transcriptase–polymerase chain reaction was used to determine the expression levels of bone specific factors. Angiogenic differentiation was determined through in vitro formation of tube-like structures and fluorescent labeling of endothelial cells. Finally, 6 weeks after BRC transplantation into a human jawbone defect, a biopsy of the regenerated site revealed highly vascularized, mineralized bone tissue formation. Taken together, these data provide evidence for the multilineage and clinical potential of BRCs for craniofacial regeneration. PMID:20412009

  15. Reference values for craniofacial structures in children 4 to 6 years old: review of the literature.

    PubMed

    Hönn, Mirjam; Göz, Gernot

    2007-05-01

    This review article addresses the question as to what methods can be used to investigate cranial structure and growth development in children 4 to 6 years old, and what the relevant reference values are for this age group. We screened the literature for epidemiological, longitudinal and cross-sectional studies investigating healthy children 4 to 6 years old without abnormalities and orthodontic therapy. Radiographic cephalometry is a practical, valid tool for analyzing craniofacial structure and growth processes. But it has several disadvantages, including the use of ionizing radiation, measuring points that are difficult to locate, no means of radiographic enlargement without distorting reference values, and the data's two-dimensionality. Anthropometry is another procedure for creating reference values for the craniofacial structure in children. Its advantages over radiographic cephalometry include three-dimensional results and no radiation exposure. Moreover, it yields precise and valid results for a wide variety of potential applications. In addition to these procedures, there are other techniques with which cranial structure and growth development in children 4 to 6 years old can be investigated. Those reported in the literature in this connection include standardized photographs, the creation of computerized and magnetic resonance images, and investigations performed on dry skulls. In short, there is great demand nowadays for investigations aimed at developing reference values for Caucasian children 4 to 6 years old. Radiographic cephalometry and anthropometry are two very common methods. Anthropometry is expected to become increasingly important because it involves no exposure to radiation.

  16. Predicting skeletal maturation using cervical vertebrae.

    PubMed

    Minars, Michael; Burch, James; Masella, Richard; Meister, Malcolm

    2003-10-01

    This study's objective was to familiarize the profession with determining skeletal maturation and skeletal age, and predicting growth potential by using cervical vertebrae images of lateral cephalograms. The investigation was done through repeated evaluations of 30 randomly selected, pretreatment lateral cepaholometric radiographs. The accuracy of determining skeletal age and growth potential with lateral cephalograms was found to be R=0.98 (highly accurate) by statistical analysis.

  17. Repairing skeletal muscle: regenerative potential of skeletal muscle stem cells

    PubMed Central

    Tedesco, Francesco Saverio; Dellavalle, Arianna; Diaz-Manera, Jordi; Messina, Graziella; Cossu, Giulio

    2010-01-01

    Skeletal muscle damaged by injury or by degenerative diseases such as muscular dystrophy is able to regenerate new muscle fibers. Regeneration mainly depends upon satellite cells, myogenic progenitors localized between the basal lamina and the muscle fiber membrane. However, other cell types outside the basal lamina, such as pericytes, also have myogenic potency. Here, we discuss the main properties of satellite cells and other myogenic progenitors as well as recent efforts to obtain myogenic cells from pluripotent stem cells for patient-tailored cell therapy. Clinical trials utilizing these cells to treat muscular dystrophies, heart failure, and stress urinary incontinence are also briefly outlined. PMID:20051632

  18. Aristaless-like homeobox protein 1 (ALX1) variant associated with craniofacial structure and frontonasal dysplasia in Burmese cats

    PubMed Central

    Lyons, Leslie A.; Erdman, Carolyn A.; Grahn, Robert A.; Hamilton, Michael J.; Carter, Michael J.; Helps, Christopher R.; Alhaddad, Hasan; Gandolfi, Barbara

    2015-01-01

    Frontonasal dysplasia (FND) can have severe presentations that are medically and socially debilitating. Several genes are implicated in FND conditions, including Aristaless-Like Homeobox 1 (ALX1), which is associated with FND3. Breeds of cats are selected and bred for extremes in craniofacial morphologies. In particular, a lineage of Burmese cats with severe brachycephyla is extremely popular and is termed Contemporary Burmese. Genetic studies demonstrated that the brachycephyla of the Contemporary Burmese is a simple co-dominant trait, however, the homozygous cats have a severe craniofacial defect that is incompatible with life. The craniofacial defect of the Burmese was genetically analyzed over a 20 year period, using various genetic analysis techniques. Family-based linkage analysis localized the trait to cat chromosome B4. Genome-wide association studies and other genetic analyses of SNP data refined a critical region. Sequence analysis identified a 12 bp in frame deletion in ALX1, c.496delCTCTCAGGACTG, which is 100% concordant with the craniofacial defect and not found in cats not related to the Contemporary Burmese. PMID:26610632

  19. Differences in Craniofacial Shape Among A/J and C57BL/6J Mice and Their F1 Crosses

    DTIC Science & Technology

    2006-05-31

    Many authors have found relationships between various craniofacial measurements and the occurrence of cleft lip (CL) in humans. Other authors have...found similar relationships in mice. Although it is widely recognized that a relationship exists between oral clefting and facial shape, this

  20. Postnatal treatment factors affecting craniofacial morphology of unilateral cleft lip and palate (UCLP) patients in a Japanese population.

    PubMed

    Alam, M K; Iida, J; Sato, Y; Kajii, Takashi S

    2013-12-01

    We have evaluated the craniofacial morphology of Japanese patients with unilateral cleft lip and palate (UCLP) and assessed the various postnatal factors that affect it. Lateral cephalograms of 140 subjects (mean (SD) aged 7 (2) years) with UCLP were taken before orthodontic treatment. Surgeons from Hokkaido University Hospital had done the primary operations. The craniofacial morphology was assessed by angular and linear cephalometric measurements. Cheiloplasty, palatoplasty, and preoperative orthopaedic treatment were chosen as postnatal factors. To compare the assessments of the postnatal factors, we made angular and linear cephalometric measurements for each subject and converted them into Z scores in relation to the mean (SD) of the two variables. Subjects treated by the modified Millard cheiloplasty had larger sella-nasion-point A (SNA) and nasion-point A-pogonion (NA-POG) measurements than subjects treated by the modified Millard with a vomer flap cheiloplasty. Two-stage palatoplasty showed consistently better craniofacial morphology than the other palatoplasty. Subjects who had preoperative orthopaedic treatment with a Hotz plate had significantly larger upper incisor/sella-nasion (U1-SN) measurements than who had no preoperative orthopaedic treatment or an active plate. We conclude that in subjects treated by a modified Millard type of cheiloplasty, a two-stage palatoplasty, and a Hotz plate there were fewer adverse effects on craniofacial morphology.

  1. A Phenotype-Driven ENU Mutagenesis Screen Identifies Novel Alleles With Functional Roles in Early Mouse Craniofacial Development

    PubMed Central

    Sandell, Lisa L.; Iulianella, Angelo; Melton, Kristin R.; Lynn, Megan; Walker, Macie; Inman, Kimberly E.; Bhatt, Shachi; Leroux-Berger, Margot; Crawford, Michelle; Jones, Natalie C.; Dennis, Jennifer F.; Trainor, Paul A.

    2012-01-01

    Summary Proper craniofacial development begins during gastrulation and requires the coordinated integration of each germ layer tissue (ectoderm, mesoderm, and endoderm) and its derivatives in concert with the precise regulation of cell proliferation, migration, and differentiation. Neural crest cells, which are derived from ectoderm, are a migratory progenitor cell population that generates most of the cartilage, bone, and connective tissue of the head and face. Neural crest cell development is regulated by a combination of intrinsic cell autonomous signals acquired during their formation, balanced with extrinsic signals from tissues with which the neural crest cells interact during their migration and differentiation. Although craniofacial anomalies are typically attributed to defects in neural crest cell development, the cause may be intrinsic or extrinsic. Therefore, we performed a phenotype-driven ENU mutagenesis screen in mice with the aim of identifying novel alleles in an unbiased manner, that are critically required for early craniofacial development. Here we describe 10 new mutant lines, which exhibit phenotypes affecting frontonasal and pharyngeal arch patterning, neural and vascular development as well as sensory organ morphogenesis. Interestingly, our data imply that neural crest cells and endothelial cells may employ similar developmental programs and be interdependent during early embryogenesis, which collectively is critical for normal craniofacial morphogenesis. Furthermore our novel mutants that model human conditions such as exencephaly, craniorachischisis, DiGeorge, and Velocardiofacial sydnromes could be very useful in furthering our understanding of the complexities of specific human diseases. PMID:21305688

  2. Craniofacial osteoblast responses to polycaprolactone produced using a novel boron polymerisation technique and potassium fluoride post-treatment.

    PubMed

    Gough, J E; Christian, P; Scotchford, C A; Jones, I A

    2003-12-01

    There is no ideal material for craniofacial bone repair at present. The aim of this study was to test the biocompatibility of polycaprolactone (PCL) synthesised by a novel method allowing control of molecular weight and degradation rate, with regard to it being used as matrix for a biodegradable composite for craniofacial bone repair. Human primary craniofacial cells were used, isolated from paediatric skull after surgery. Cell responses were analysed using various assays and antibody staining. Cells attached and spread on the PCL in a similar manner to the Thermanox controls as shown by phalloidin staining of F-actin. Cells maintained the osteoblast phenotype as demonstrated by alkaline phosphatase assay and antibody staining throughout the time points studied, up to 28 days. Cells proliferated on the PCL as shown by a DNA assay. Collagen-1 staining showed extensive production of a collagen-1 containing extracellular matrix, which was also shown to be mineralised by alizarin red staining. Short-term (up to 48 h) attachment studies and long-term (up to 28 days) expression of markers of the osteoblast phenotype have been demonstrated on the PCL. This new method of synthesising PCL shows biocompatibility characteristics that give it potential to be used for craniofacial bone repair.

  3. Aristaless-Like Homeobox protein 1 (ALX1) variant associated with craniofacial structure and frontonasal dysplasia in Burmese cats.

    PubMed

    Lyons, Leslie A; Erdman, Carolyn A; Grahn, Robert A; Hamilton, Michael J; Carter, Michael J; Helps, Christopher R; Alhaddad, Hasan; Gandolfi, Barbara

    2016-01-15

    Frontonasal dysplasia (FND) can have severe presentations that are medically and socially debilitating. Several genes are implicated in FND conditions, including Aristaless-Like Homeobox 1 (ALX1), which is associated with FND3. Breeds of cats are selected and bred for extremes in craniofacial morphologies. In particular, a lineage of Burmese cats with severe brachycephyla is extremely popular and is termed Contemporary Burmese. Genetic studies demonstrated that the brachycephyla of the Contemporary Burmese is a simple co-dominant trait, however, the homozygous cats have a severe craniofacial defect that is incompatible with life. The craniofacial defect of the Burmese was genetically analyzed over a 20 year period, using various genetic analysis techniques. Family-based linkage analysis localized the trait to cat chromosome B4. Genome-wide association studies and other genetic analyses of SNP data refined a critical region. Sequence analysis identified a 12bp in frame deletion in ALX1, c.496delCTCTCAGGACTG, which is 100% concordant with the craniofacial defect and not found in cats not related to the Contemporary Burmese.

  4. Time-dependent behavior of passive skeletal muscle

    NASA Astrophysics Data System (ADS)

    Ahamed, T.; Rubin, M. B.; Trimmer, B. A.; Dorfmann, L.

    2016-03-01

    An isotropic three-dimensional nonlinear viscoelastic model is developed to simulate the time-dependent behavior of passive skeletal muscle. The development of the model is stimulated by experimental data that characterize the response during simple uniaxial stress cyclic loading and unloading. Of particular interest is the rate-dependent response, the recovery of muscle properties from the preconditioned to the unconditioned state and stress relaxation at constant stretch during loading and unloading. The model considers the material to be a composite of a nonlinear hyperelastic component in parallel with a nonlinear dissipative component. The strain energy and the corresponding stress measures are separated additively into hyperelastic and dissipative parts. In contrast to standard nonlinear inelastic models, here the dissipative component is modeled using an evolution equation that combines rate-independent and rate-dependent responses smoothly with no finite elastic range. Large deformation evolution equations for the distortional deformations in the elastic and in the dissipative component are presented. A robust, strongly objective numerical integration algorithm is used to model rate-dependent and rate-independent inelastic responses. The constitutive formulation is specialized to simulate the experimental data. The nonlinear viscoelastic model accurately represents the time-dependent passive response of skeletal muscle.

  5. Craniofacial Features Resembling Frontonasal Dysplasia with a Tubulonodular Interhemispheric Lipoma in the Adult 3H1 tuft Mouse

    PubMed Central

    Fong, Keith S. K.; Cooper, Tiffiny Baring; Drumhiller, Wallace C.; Somponpun, Jack; Yang, Shiming; Ernst, Thomas; Chang, Linda; Lozanoff, Scott

    2012-01-01

    Intracranial lipomas are rare, but 45% of them occur along the midline cisterns between the hemispheres and are often associated with corpus callosum hypoplasia and craniofacial defects. They are difficult to detect, as they are generally asymptomatic and visible by MRI or by postmortem examination. The exact cause of these interhemispheric lipomas is not known, but they arise from a developmental defect resulting in the maldifferentiation of mesenchymal cells into mesodermal derivatives that are not normally present. We have identified a new mouse mutant called tuft, exhibiting a forebrain, intracranial lipoma with midline craniofacial defects resembling frontonasal dysplasia (FND) that arose spontaneously in our wild-type 3H1 colony. The tuft trait appears to be transmitted in recessive fashion, but approximately 80% less frequent than the expected Mendelian 25%, due to either incomplete penetrance or prenatal lethality. MRI and histological analysis revealed that the intracranial lipoma occurred between the hemispheres and often protruded through the sagittal suture. We also observed a lesion at the lamina terminalis that may indicate improper closure of the anterior neuropore. We have mapped the tuft trait to within an 18 cM region on mouse chromosome 10 by microsatellite linkage analysis and identified several candidate genes involved with craniofacial development and cellular differentiation of adipose tissue. tuft is the only known mouse model for midline craniofacial defects with an intracranial lipoma. Identifying the gene(s) and mutation(s) causing this early developmental defect will help us understand the pathogenesis of FND and related craniofacial disorders. PMID:22246904

  6. Injection of adjuvant but not acidic saline into craniofacial muscle evokes nociceptive behaviors and neuropeptide expression.

    PubMed

    Ambalavanar, R; Yallampalli, C; Yallampalli, U; Dessem, D

    2007-11-09

    Craniofacial muscle pain including muscular temporomandibular disorders accounts for a substantial portion of all pain perceived in the head and neck region. In spite of its high clinical prevalence, the mechanisms of chronic craniofacial muscle pain are not well understood. Injection of acidic saline into rodent hindlimb muscles produces pathologies which resemble muscular pathologies in chronic pain patients. Here we investigated whether analogous transformations occur following repeated injections of acidic saline into the rat masseter muscle. Injection of acidic saline (pH 4) into the masseter muscle transiently lowered i.m. pH to levels comparable to those reported for rodent hindlimb muscles. Nevertheless, repeated unilateral or bilateral injections of acidic saline (pH 4) into the masseter muscle failed to alter nociceptive behavioral responses as occurs in the hindlimb. Changing the pH of injected saline to pH 3.0 or 5.0 also did not evoke nocifensive behavior. Acid sensing ion channel 3 receptors, which are implicated in transformations following acidification of hindlimb muscles, were found on trigeminal ganglion muscle afferent neurons via combined neuronal tracing and immunocytochemistry. In contrast to the acidic saline, injection of complete Freund's adjuvant (CFA) into the masseter muscle induced mechanical allodynia for 3 weeks, thermal hyperalgesia for 1 week and an increase in the number of calcitonin gene-related peptide (CGRP)-immunoreactive muscle afferent neurons in the trigeminal ganglion. Although pH may alter CGRP release in primary afferent neurons, the number of CGRP-muscle afferent neurons did not change following i.m. injection of acidic saline. Further, there was no change in ganglionic iCGRP levels at 1, 4 or 12 days after i.m. injection of acidic saline. While these findings extend our earlier reports that CFA-induced muscle inflammation results in behavioral and neuropeptide changes they further suggest that i.m. acidification in

  7. Wdr68 Mediates Dorsal and Ventral Patterning Events for Craniofacial Development

    PubMed Central

    Alvarado, Greg; Shang, Robin; Whitman, Taryn; Martinez, Andrew; Yu, Yang; Pham, Annie; Bhandari, Anish; Wang, Bingyan; Nissen, Robert M.

    2016-01-01

    Birth defects are among the leading causes of infant mortality and contribute substantially to illness and long-term disability. Defects in Bone Morphogenetic Protein (BMP) signaling are associated with cleft lip/palate. Many craniofacial syndromes are caused by defects in signaling pathways that pattern the cranial neural crest cells (CNCCs) along the dorsal-ventral axis. For example, auriculocondylar syndrome is caused by impaired Endothelin-1 (Edn1) signaling, and Alagille syndrome is caused by defects in Jagged-Notch signaling. The BMP, Edn1, and Jag1b pathways intersect because BMP signaling is required for ventral edn1 expression that, in turn, restricts jag1b to dorsal CNCC territory. In zebrafish, the scaffolding protein Wdr68 is required for edn1 expression and subsequent formation of the ventral Meckel’s cartilage as well as the dorsal Palatoquadrate. Here we report that wdr68 activity is required between the 17-somites and prim-5 stages, that edn1 functions downstream of wdr68, and that wdr68 activity restricts jag1b, hey1, and grem2 expression from ventral CNCC territory. Expression of dlx1a and dlx2a was also severely reduced in anterior dorsal and ventral 1st arch CNCC territory in wdr68 mutants. We also found that the BMP agonist isoliquiritigenin (ISL) can partially rescue lower jaw formation and edn1 expression in wdr68 mutants. However, we found no significant defects in BMP reporter induction or pSmad1/5 accumulation in wdr68 mutant cells or zebrafish. The Transforming Growth Factor Beta (TGF-β) signaling pathway is also known to be important for craniofacial development and can interfere with BMP signaling. Here we further report that TGF-β interference with BMP signaling was greater in wdr68 mutant cells relative to control cells. To determine whether interference might also act in vivo, we treated wdr68 mutant zebrafish embryos with the TGF-β signaling inhibitor SB431542 and found partial rescue of edn1 expression and craniofacial

  8. Effect of prenatal alcohol exposure on bony craniofacial development: a mouse MicroCT study.

    PubMed

    Shen, Li; Ai, Huisi; Liang, Yun; Ren, Xiaowei; Anthony, Charles Bruce; Goodlett, Charles R; Ward, Richard; Zhou, Feng C

    2013-08-01

    Craniofacial bone dysmorphology is an important but under-explored potential diagnostic feature of fetal alcohol spectrum disorders. This study used longitudinal MicroCT 3D imaging to examine the effect of prenatal alcohol exposure on craniofacial bone growth in a mouse model. C57BL/6J dams were divided into 3 groups: alcohol 4.2% v/v in PMI® liquid diet (ALC), 2 weeks prior to and during pregnancy from embryonic (E) days 7-E16; pair-fed controls (PF), isocalorically matched to the ALC group; chow controls (CHOW), given ad libitum chow and water. The MicroCT scans were performed on pups on postnatal days 7 (P7) and P21. The volumes of the neurocranium (volume encased by the frontal, parietal, and occipital bones) and the viscerocranium (volume encased by the mandible and nasal bone), along with total skull bone volume, head size, and head circumference were evaluated using general linear models and discriminant analyses. The pups in the alcohol-treated group, when compared to the chow-fed controls (ALC vs CHOW) and the isocaloric-fed controls (ALC vs PF), showed differences in head size and circumference at P7 and P21, the total skull volume and parietal bone volume at P7, and volume of all the tested bones except nasal at P21. There was a growth trend of ALC < CHOW and ALC < PF. While covarying for gender and head size or circumference, the treatment affected the total skull and mandible at P7 (ALC > CHOW), and the total skull, parietal bone, and occipital bone at P21 (ALC < CHOW, ALC < PF). While covarying for the P7 measures, the treatment affected only the 3 neurocranial bones at P21 (ALC < CHOW, ALC < PF). Discriminant analysis sensitively selected between ALC and CHOW (AUC = 0.967), between ALC and PF (AUC = 0.995), and between PF and CHOW (AUC = 0.805). These results supported our hypothesis that craniofacial bones might be a reliable and sensitive indicator for the diagnosis of prenatal alcohol exposure. Significantly, we found that the neurocranium (upper

  9. Wdr68 Mediates Dorsal and Ventral Patterning Events for Craniofacial Development.

    PubMed

    Alvarado, Estibaliz; Yousefelahiyeh, Mina; Alvarado, Greg; Shang, Robin; Whitman, Taryn; Martinez, Andrew; Yu, Yang; Pham, Annie; Bhandari, Anish; Wang, Bingyan; Nissen, Robert M

    2016-01-01

    Birth defects are among the leading causes of infant mortality and contribute substantially to illness and long-term disability. Defects in Bone Morphogenetic Protein (BMP) signaling are associated with cleft lip/palate. Many craniofacial syndromes are caused by defects in signaling pathways that pattern the cranial neural crest cells (CNCCs) along the dorsal-ventral axis. For example, auriculocondylar syndrome is caused by impaired Endothelin-1 (Edn1) signaling, and Alagille syndrome is caused by defects in Jagged-Notch signaling. The BMP, Edn1, and Jag1b pathways intersect because BMP signaling is required for ventral edn1 expression that, in turn, restricts jag1b to dorsal CNCC territory. In zebrafish, the scaffolding protein Wdr68 is required for edn1 expression and subsequent formation of the ventral Meckel's cartilage as well as the dorsal Palatoquadrate. Here we report that wdr68 activity is required between the 17-somites and prim-5 stages, that edn1 functions downstream of wdr68, and that wdr68 activity restricts jag1b, hey1, and grem2 expression from ventral CNCC territory. Expression of dlx1a and dlx2a was also severely reduced in anterior dorsal and ventral 1st arch CNCC territory in wdr68 mutants. We also found that the BMP agonist isoliquiritigenin (ISL) can partially rescue lower jaw formation and edn1 expression in wdr68 mutants. However, we found no significant defects in BMP reporter induction or pSmad1/5 accumulation in wdr68 mutant cells or zebrafish. The Transforming Growth Factor Beta (TGF-β) signaling pathway is also known to be important for craniofacial development and can interfere with BMP signaling. Here we further report that TGF-β interference with BMP signaling was greater in wdr68 mutant cells relative to control cells. To determine whether interference might also act in vivo, we treated wdr68 mutant zebrafish embryos with the TGF-β signaling inhibitor SB431542 and found partial rescue of edn1 expression and craniofacial

  10. Sympathetic actions on the skeletal muscle.

    PubMed

    Roatta, Silvestro; Farina, Dario

    2010-01-01

    The sympathetic nervous system (SNS) modulates several functions in skeletal muscle fibers, including metabolism, ionic transport across the membrane, and contractility. These actions, together with the sympathetic control of other organ systems, support intense motor activity. However, some SNS actions on skeletal muscles may not always be functionally advantageous. Implications for motor control and sport performance are discussed.

  11. Taurine and skeletal muscle disorders.

    PubMed

    Conte Camerino, Diana; Tricarico, Domenico; Pierno, Sabata; Desaphy, Jean-François; Liantonio, Antonella; Pusch, Michael; Burdi, Rosa; Camerino, Claudia; Fraysse, Bodvael; De Luca, Annamaria

    2004-01-01

    Taurine is abundantly present in skeletal muscle. We give evidence that this amino acid exerts both short-term and long-term actions in the control of ion channel function and calcium homeostasis in striated fibers. Short-term actions can be estimated as the ability of this amino acid to acutely modulate both ion channel gating and the function of the structures involved in calcium handling. Long-term effects can be disclosed in situations of tissue taurine depletion and are likely related to the ability of the intracellular taurine to control transducing pathways as well as homeostatic and osmotic equilibrium in the tissue. The two activities are strictly linked because the intracellular level of taurine modulates the sensitivity of skeletal muscle to the exogenous application of taurine. Myopathies in which ion channels are directly or indirectly involved, as well as inherited or acquired pathologies characterized by metabolic alterations and change in calcium homeostasis, are often correlated with change in muscle taurine concentration and consequently with an enhanced therapeutic activity of this amino acid. We discuss both in vivo and in vitro evidence that taurine, through its ability to control sarcolemmal excitability and muscle contractility, can prove beneficial effects in many muscle dysfunctions.

  12. The Ptch1DL mouse: a new model to study lambdoid craniosynostosis and basal cell nevus syndrome associated skeletal defects

    PubMed Central

    Feng, Weiguo; Choi, Irene; Clouthier, David E.; Niswander, Lee; Williams, Trevor

    2013-01-01

    Mouse models provide valuable opportunities for probing the underlying pathology of human birth defects. Employing an ENU-based screen for recessive mutations affecting craniofacial anatomy we isolated a mouse strain, Dogface-like (DL), with abnormal skull and snout morphology. Examination of the skull indicated that these mice developed craniosynostosis of the lambdoid suture. Further analysis revealed skeletal defects related to the pathology of basal cell nevus syndrome (BCNS) including defects in development of the limbs, scapula, ribcage, secondary palate, cranial base, and cranial vault. In humans, BCNS is often associated with mutations in the Hedgehog receptor PTCH1 and genetic mapping in DL identified a point mutation at a splice donor site in Ptch1. Using genetic complementation analysis we determined that DL is a hypomorphic allele of Ptch1, leading to increased Hedgehog signaling. Two aberrant transcripts are generated by the mutated Ptch1DL gene, which would be predicted to reduce significantly the levels of functional Patched1 protein. This new Ptch1 allele broadens the mouse genetic reagents available to study the Hedgehog pathway and provides a valuable means to study the underlying skeletal abnormalities in BCNS. In addition, these results strengthen the connection between elevated Hedgehog signaling and craniosynostosis. PMID:23897749

  13. Amino Acid Sensing in Skeletal Muscle.

    PubMed

    Moro, Tatiana; Ebert, Scott M; Adams, Christopher M; Rasmussen, Blake B

    2016-11-01

    Aging impairs skeletal muscle protein synthesis, leading to muscle weakness and atrophy. However, the underlying molecular mechanisms remain poorly understood. Here, we review evidence that mammalian/mechanistic target of rapamycin complex 1 (mTORC1)-mediated and activating transcription factor 4 (ATF4)-mediated amino acid (AA) sensing pathways, triggered by impaired AA delivery to aged skeletal muscle, may play important roles in skeletal muscle aging. Interventions that alleviate age-related impairments in muscle protein synthesis, strength, and/or muscle mass appear to do so by reversing age-related changes in skeletal muscle AA delivery, mTORC1 activity, and/or ATF4 activity. An improved understanding of the mechanisms and roles of AA sensing pathways in skeletal muscle may lead to evidence-based strategies to attenuate sarcopenia.

  14. Signaling pathways controlling skeletal muscle mass.

    PubMed

    Egerman, Marc A; Glass, David J

    2014-01-01

    The molecular mechanisms underlying skeletal muscle maintenance involve interplay between multiple signaling pathways. Under normal physiological conditions, a network of interconnected signals serves to control and coordinate hypertrophic and atrophic messages, culminating in a delicate balance between muscle protein synthesis and proteolysis. Loss of skeletal muscle mass, termed "atrophy", is a diagnostic feature of cachexia seen in settings of cancer, heart disease, chronic obstructive pulmonary disease, kidney disease, and burns. Cachexia increases the likelihood of death from these already serious diseases. Recent studies have further defined the pathways leading to gain and loss of skeletal muscle as well as the signaling events that induce differentiation and post-injury regeneration, which are also essential for the maintenance of skeletal muscle mass. In this review, we summarize and discuss the relevant recent literature demonstrating these previously undiscovered mediators governing anabolism and catabolism of skeletal muscle.

  15. Effects of aestivation on skeletal muscle performance.

    PubMed

    James, Rob S

    2010-01-01

    Fitness, ecology, and behaviour of vertebrates are dependent upon locomotor performance. Locomotor performance can be constrained by underlying intrinsic skeletal muscle properties. Skeletal muscle is a highly plastic tissue undergoing phenotypic change in response to alteration in environment. Clinical and experimental models of muscle disuse cause decreases in skeletal muscle size and mechanical performance. However, in natural models of skeletal muscle disuse, both atrophy and changes in mechanical properties are more limited. Aestivation in frogs can cause decreases in muscle cross-sectional area and changes in some enzyme activities, with effects varying among muscles. However, long-term aestivation causes limited changes in muscle mechanics during simulated sprint or endurance type activities. Therefore, at least in frogs, there is maintenance of skeletal muscle performance during prolonged periods of aestivation, allowing avoidance of harsh environmental conditions without compromising the locomotor capacity to perform fitness-related activities when favourable environmental conditions return.

  16. Signaling pathways controlling skeletal muscle mass

    PubMed Central

    Egerman, Marc A.

    2014-01-01

    The molecular mechanisms underlying skeletal muscle maintenance involve interplay between multiple signaling pathways. Under normal physiological conditions, a network of interconnected signals serves to control and coordinate hypertrophic and atrophic messages, culminating in a delicate balance between muscle protein synthesis and proteolysis. Loss of skeletal muscle mass, termed “atrophy”, is a diagnostic feature of cachexia seen in settings of cancer, heart disease, chronic obstructive pulmonary disease, kidney disease, and burns. Cachexia increases the likelihood of death from these already serious diseases. Recent studies have further defined the pathways leading to gain and loss of skeletal muscle as well as the signaling events that induce differentiation and post-injury regeneration, which are also essential for the maintenance of skeletal muscle mass. In this review, we summarize and discuss the relevant recent literature demonstrating these previously undiscovered mediators governing anabolism and catabolism of skeletal muscle. PMID:24237131

  17. A real-time CORBA based system architecture for robot assisted craniofacial surgery.

    PubMed

    Pernozzoli, A; Burghart, C; Brief, J; Hassfeld, S; Raczkowsky, J; Mühling, J; Rembold, U; Wörn, H

    2000-01-01

    We present the concept of a system architecture for the computer aided craniofacial surgery. The architecture is based on CORBA, an industrial standard specification for the development of distributed applications. Our concept includes a fundamental behaviour oriented communication model and some fundamental software safety considerations. We've developed a standard library for the integration of new services and devices into our system architecture. It decreases development time noticeably. We tested the performance and usability of our concept on an evaluation set up consisting of a surgery robot system, an infrared navigation system, a force-torque sensor and a visualisation software, obtaining excellent results. Future work will consist in the integration of further devices and the extension of our safety concept. An accurate clinical evaluation will take place continuously.

  18. Cranial Neural Crest Cell Contribution to Craniofacial Formation, Pathology, and Future Directions in Tissue Engineering

    PubMed Central

    Snider, Taylor Nicholas; Mishina, Yuji

    2015-01-01

    This review provides an overview of the state and future directions of development and pathology in the craniofacial complex in the context of Cranial Neural Crest Cells (CNCC). CNCC are a multipotent cell population that is largely responsible for forming the vertebrate head. We focus on findings that have increased the knowledge of gene regulatory networks and molecular mechanisms governing CNCC migration and the participation of these cells in tissue formation. Pathology due to aberrant migration or cell death of CNCC, termed neurocristopathies, is discussed in addition to craniosynostoses. Finally, we discuss tissue engineering applications that take advantage of recent advancements in genome editing and the multipotent nature of CNCC. These applications have relevance to treating diseases due directly to the failure of CNCC, and also in restoring tissues lost due to a variety of reasons. PMID:25227212

  19. Less known non-infectious and neuromusculoskeletal system-originated anterolateral neck and craniofacial pain disorders.

    PubMed

    Aydil, Utku; Kizil, Yusuf; Köybaşioğlu, Ahmet

    2012-01-01

    Pain syndromes of neuromusculoskeletal origin are not well-known by most of the clinicians working on head and neck area. As a result, most of the patients with these syndromes are either overlooked without having any treatment or they inappropriately have antibiotic treatments or surgical interventions such as dental extractions and tonsillectomies. Better recognition of the pain syndromes of the neck and face region or entities related to neuromusculoskeletal system may result in more appropriate and effective management of such conditions while avoiding unnecessary medical and surgical treatments. In this review, causes, clinical characteristics, diagnostic and treatment modalities of relatively less known craniofacial and neck pain entities including Eagle syndrome, carotidynia, glossopharyngeal neuralgia, superior laryngeal neuralgia, hyoid bone syndrome, acute calcific retropharyngeal tendinitis, temporal tendinitis, thyroid and cricoid cartilage syndromes, and mastoid process syndrome are summarized.

  20. Evaluation of the oral flora in 150 patients suffering from chronic craniofacial pain: a retrospective study.

    PubMed

    Shankland, Wesley E

    2010-04-01

    This study was conducted to determine if microbial infection was a significant factor in patients with undiagnosed craniofacial pain. Of the 150 patients from whom intra-bony cultures were obtained, 23 different groups of isolates were obtained. There were 49 (32.67%) patients whose cultures exhibited growth of microbes other than routine oral flora, mixed skin flora or routine respiratory flora. The most common was of the Streptococcus species (11 or 22.91%) of the 49. Sixty-seven (67) (44.67%) of the total cultures demonstrated the growth of mixed skin flora, nineteen (12.67%) demonstrated the growth of routine respiratory flora and sixteen (10.67%) demonstrated the growth of routine oral flora. No bacterial isolates were found in 16 (10.67%) cultures. The most common histological diagnoses of those who exhibited pathogenic microbial growth were, in order: 1. focal osteoporotic marrow defect; 2. ischemic osteonecrosis; and 3. chronic nonsuppurative osteomyelitis.

  1. ID migraine questionnaire in temporomandibular disorders with craniofacial pain: a study by using a multidisciplinary approach.

    PubMed

    Di Paolo, Carlo; Di Nunno, Anna; Vanacore, Nicola; Bruti, Gianluca

    2009-08-01

    To evaluate the prevalence of migraine and related disability and the role of ID migraine questionnaire as a screening tool in patients with temporomandibular disorders (TMDs) and craniofacial pain (CFP). TMDs patients with CFP underwent stomatognathic (RDC/TMD criteria) and neurological visits (IHS criteria, 2004). ID migraine questionnaire and MIgraine Disability Assessment Scale (MIDAS) were also administered. Out of 45 patients, 69% met diagnosis of migraine plus chronic tension-type headache (CTTH); 9% presented CTTH and 20% were migraineurs. Out of 39 migraineurs who completed MIDAS, 56% presented the highest disability grade. Out of 37 patients who completed ID migraine questionnaire, 32 resulted affected by probable migraine with a diagnostic sensibility and specificity of 94% and 100%, respectively. Our findings showed a clinical association between TMDs and migraine. We support a clinical role of ID migraine and MIDAS in TMDs patients with CFP and we underline the importance of a multidisciplinary evaluation in this group of migraineurs.

  2. Past, present, and future of craniofacial superimposition: Literature and international surveys.

    PubMed

    Huete, Maria Isabel; Ibáñez, Oscar; Wilkinson, Caroline; Kahana, Tzipi

    2015-07-01

    In this manuscript, the past, present and future of the identification of human remains based on craniofacial superimposition is reviewed. An analysis of the different technological approaches developed over time is offered in conjunction with a new classification based on the technology implemented throughout the diverse phases of the process. The state of the art of the technique, in the academic and forensic realms, is reflected in an extensive international survey that includes over one hundred experts worldwide. The results of the survey indicate the current relative importance of the technique, despite of its controversial nature within the scientific community. Finally, the future challenges to be faced to justify the use of this technique for either profiling, exclusion or identification purposes are discussed.

  3. Study on the criteria for assessing skull-face correspondence in craniofacial superimposition.

    PubMed

    Ibáñez, Oscar; Valsecchi, Andrea; Cavalli, Fabio; Huete, María Isabel; Campomanes-Alvarez, Blanca Rosario; Campomanes-Alvarez, Carmen; Vicente, Ricardo; Navega, David; Ross, Ann; Wilkinson, Caroline; Jankauskas, Rimantas; Imaizumi, Kazuhiko; Hardiman, Rita; Jayaprakash, Paul Thomas; Ruiz, Elena; Molinero, Francisco; Lestón, Patricio; Veselovskaya, Elizaveta; Abramov, Alexey; Steyn, Maryna; Cardoso, Joao; Humpire, Daniel; Lusnig, Luca; Gibelli, Daniele; Mazzarelli, Debora; Gaudio, Daniel; Collini, Federica; Damas, Sergio

    2016-11-01

    Craniofacial superimposition has the potential to be used as an identification method when other traditional biological techniques are not applicable due to insufficient quality or absence of ante-mortem and post-mortem data. Despite having been used in many countries as a method of inclusion and exclusion for over a century it lacks standards. Thus, the purpose of this research is to provide forensic practitioners with standard criteria for analysing skull-face relationships. Thirty-seven experts from 16 different institutions participated in this study, which consisted of evaluating 65 criteria for assessing skull-face anatomical consistency on a sample of 24 different skull-face superimpositions. An unbiased statistical analysis established the most objective and discriminative criteria. Results did not show strong associations, however, important insights to address lack of standards were provided. In addition, a novel methodology for understanding and standardizing identification methods based on the observation of morphological patterns has been proposed.

  4. Principles of bone formation driven by biophysical forces in craniofacial surgery.

    PubMed

    Meyer, U; Kruse-Lösler, B; Wiesmann, H P

    2006-08-01

    Biophysical forces, particularly mechanical loading and electromagnetic signals, are important regulators of bone formation. Indeed, the regenerative capacity of bony tissue is largely the result of the bone's capacity to recognise the functional environment required for the emergence and maintenance of a structurally intact bone. Biophysical methods of stimulation have therefore been introduced and have proved successful in clinical practice with craniofacial bones. Distraction osteogenesis, application of ultrasound, calculated transfer of stresses, and exposure to an electromagnetic field are some examples of biophysically driven approaches to influencing bone formation. The purpose of this review is to provide an insight into cellular and tissue models that are used to study the effects of biophysical stimuli on bone.

  5. Peri-implant soft tissue maintenance in patients with craniofacial implant retained prostheses.

    PubMed

    Allen, P F; Watson, G; Stassen, L; McMillan, A S

    2000-04-01

    The aim of this pilot study was to describe the effectiveness of a hygiene protocol prescribed for patients receiving craniofacial implant retained prostheses. Eleven subjects receiving either orbital or auricular prostheses were instructed by a hygienist in debris removal procedures. Patients were re-examined on at least four occasions over the following 18 months, and tissue health around the implant abutments was evaluated using standard criteria. In most cases, adequate debris removal was demonstrated, particularly when hygiene procedures were reinforced at the second follow-up visit. Barriers to maintenance of tissue health included inadequate space between fixtures and thickness of skin around abutments. Occasionally, prostheses had to be replaced due to inappropriate cleaning methods. The intensive hygiene regimen helped maintain tissue health around implant abutments, although it was demanding in terms of professional time.

  6. Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental Delay, and Multiple Congenital Malformations

    PubMed Central

    Sirisena, Nirmala D.; Wijetunge, U. Kalpani S.; de Silva, Ramya; Dissanayake, Vajira H. W.

    2013-01-01

    A 4-month-old Sri Lankan male child case with a de novo terminal deletion in the p22→pter region of chromosome 9 is described. The child presented with craniofacial dysmorphism, developmental delay, and congenital malformations in agreement with the consensus phenotype. A distinctive feature observed in this child was complete collapse of the left lung due to malformation of lung tissue. Cytogenetic studies confirmed terminal deletion of the short arm of chromosome 9 distal to band p22 [46,XY,del(9)(p22→pter)]. This is the first reported case of a de novo deletion 9p syndrome associated with pulmonary hypoplasia. This finding contributes to the widening of the spectrum of phenotypic features associated with deletion 9p syndrome. PMID:23984121

  7. The craniofacial necrotizing fasciitis after a minor trauma in an elderly white woman

    PubMed Central

    Osowicka, Magdalena; Buss, Tomasz; Lichodziejewska-Niemierko, Monika

    2014-01-01

    The term necrotizing fasciitis /NF/ was probably first described by Jones in 1871 as “hospital gangrene”. NF, with its fast spreading from the local infection to massive necrosis of the underlying tissues, ie. superficial fascia and subcutaneous layers, is a potentially fatal disease, unless diagnosed early and properly treated. NF is more frequent in frail patients with chronic debilitating illnesses, immune deficiencies or from a poor social background. Sixty percent of NF cases occur in females. Here we present a case of necrotizing fasciitis of the head and neck region after a minor trauma (phenol blocks due to severe neuropathic pain) in an 82-year-old female with the history of trigeminal neuralgia. Key words:Necrotizing fasciitis, craniofacial infection, tissue necrosis. PMID:25136437

  8. The transforming training pathway of plastic and craniofacial surgery in China.

    PubMed

    Pan, Sida; Yin, Kanhua; Zhang, Yang; Xu, Haisong; Wei, Min

    2015-03-01

    The history of plastic surgery in China dates back to about 17 centuries ago when Chinese ancestors documented a case of cleft lip repair, whereas the concepts of modern plastic surgery were imported from the West. In the last 50 years, the Chinese plastic surgeons have thrived and, through their hard work and even harder-gained experiences, witnessed the emergence of microsurgery in the 1960s, the development of craniofacial surgery during the 1970s, and cosmetic surgery becoming a trend since 1980s.With the fast renovation of treatment methods and the broadened spectrum of indications, more specialists with solid basic science knowledge and adequate clinical experience are needed for providing plastic, reconstructive, and aesthetic treatment. Attempts and efforts have been made to establish a suitable training system in China for plastic surgeons and plastic subspecialists recently, which led to the transformation of pathway for one to become a plastic surgeon and provoked thoughts upon the upcoming challenges.

  9. Oral and craniofacial manifestations of multiple sclerosis: implications for the oral health care provider.

    PubMed

    Zhang, G-Q; Meng, Y

    2015-12-01

    Multiple sclerosis is a complex neurological condition affecting sensory and motor nerve transmission. Its progression and symptoms are unpredictable and vary from person to person as well as over time. Symptoms of orofacial pain, trigeminal neuralgia, spasticity, spasms, tremor, fatigue, depression and progressive disability, impact on the individual's ability to maintain oral health, cope with dental treatment and access dental services. Also, many of the medications used in the symptomatic management of the condition have the potential to cause dry mouth and associated oral disease. There is no cure for multiple sclerosis, and treatment focuses on prevention of disability and maintenance of quality of life. The oral health care team plays an essential role in ensuring that oral health impacts positively on general health. This review highlights the epidemiology, etiology, pathophysiology, diagnosis, oral and craniofacial manifestations and their management, and oral health care considerations in patients with MS.

  10. [Determination of somatotype of man in cranio-facial personality identification].

    PubMed

    2004-01-01

    On the basis of their independent research and through the analysis of published data the authors suggested quantitative criteria for the diagnosis of a somatotype of man by the dimensional features of the face and skull. M. A. Negasheva method, based on the discriminative analysis of 7 measurement features, was used in the individual diagnosis of a somatotype by V. V. Bunaka scheme (somatotypes-pectoral, muscular, abdominal and indefinite). The authors suggest 2 diagnostic models based on the linear and discriminative analysis of 11 and 7 measurement features for the skull. The diagnostic accuracy in case of main male som-atotypes makes 87 and 64.4%, respectively, with the canonic correlations of 0.574 and 0.292. The designed methods can be used in forensic medicine for the cranio-facial and portrait expertise.

  11. Reflections on the face of Japan: a multivariate craniofacial and odontometric perspective.

    PubMed

    Brace, C L; Brace, M L; Leonard, W R

    1989-01-01

    Craniofacial variables for modern and prehistoric Japanese were subjected to multivariate analysis to test the relationships of the people of Japan with mainland Asian and Oceanic samples. The modern Japanese are tied to Koreans, Chinese, Southeast Asians, and the Yayoi rice agriculturalists who entered Japan in 300 B.C. Together they make up a Mainland-Asia cluster of related populations. The prehistoric Jomon foragers, the original inhabitants of the Japanese archipelago, are the direct ancestors of the modern Ainu, who made a recognizable contribution to the warrior class--the Samurai--of feudal Japan. Together, they are associated with Polynesians and Micronesians in a Jomon-Pacific cluster of related populations. Jomon-to-Ainu tooth size reduction proceeded at the same rate as that observable in the post-Pleistocene elsewhere in the Old World.

  12. Matrices and scaffolds for drug delivery in dental, oral and craniofacial tissue engineering☆

    PubMed Central

    Moioli, Eduardo K.; Clark, Paul A.; Xin, Xuejun; Lal, Shan; Mao, Jeremy J.

    2010-01-01

    Current treatments for diseases and trauma of dental, oral and craniofacial (DOC) structures rely on durable materials such as amalgam and synthetic materials, or autologous tissue grafts. A paradigm shift has taken place to utilize tissue engineering and drug delivery approaches towards the regeneration of these structures. Several prototypes of DOC structures have been regenerated such as temporomandibular joint (TMJ) condyle, cranial sutures, tooth structures and periodontium components. However, many challenges remain when taking in consideration the high demand for esthetics of DOC structures, the complex environment and yet minimal scar formation in the oral cavity, and the need for accommodating multiple tissue phenotypes. This review highlights recent advances in the regeneration of DOC structures, including the tooth, periodontium, TMJ, cranial sutures and implant dentistry, with specific emphasis on controlled release of signaling cues for stem cells, biomaterial matrices and scaffolds, and integrated tissue engineering approaches. PMID:17499385

  13. Regional isolation in the Balkan region: an analysis of craniofacial variation.

    PubMed

    Ross, Ann H

    2004-05-01

    Biological variation is investigated among contemporary Croatians, Bosnians, American whites, and other multitemporal Balkan populations (World War II Croatians, Macedonians, and Greeks) via multivariate statistics and distance measures of the craniofacial complex. This study demonstrates that there is considerable variation among groups of European ancestry. Bosnians and Croatians who are thought to be relatively homogenous and historically to originate from the same Slav ancestry show local variations. While environmental plasticity has been used to explain cranial changes among human groups, it does not adequately explain the variation observed between Bosnians and Croatians. It is an oversimplification to exclusively attribute the vast range of variability observed among local as well as geographic populations to environmental adaptations.

  14. Children's experience of living with a craniofacial condition: perspectives of children and parents.

    PubMed

    Roberts, Rachel M; Shute, Rosalyn

    2011-07-01

    This is the first study to examine the range of experiences of children living with a wide range of craniofacial anomalies (CFAs), from the perspectives of children and parents. We interviewed 26 young people and 28 parents about both stressors and positive aspects for young people of living with a CFA. Thematic analysis revealed four major stress-related themes (self-acceptance, responses of others, disabilities and impairments, and treatment). Positive themes included personal qualities and support. Psychological theories often applied to those with CFAs relate to attractiveness, stigma and teasing, but the present findings suggest that these are not as useful as the conceptualization of CFAs as chronic conditions which influence adaptive tasks. Implications for clinical practice are discussed.

  15. Glutamate dysregulation in the trigeminal ganglion: a novel mechanism for peripheral sensitization of the craniofacial region.

    PubMed

    Laursen, J C; Cairns, B E; Dong, X D; Kumar, U; Somvanshi, R K; Arendt-Nielsen, L; Gazerani, P

    2014-01-03

    In the trigeminal ganglion (TG), satellite glial cells (SGCs) form a functional unit with neurons. It has been proposed that SGCs participate in regulating extracellular glutamate levels and that dysfunction of this SGC capacity can impact nociceptive transmission in craniofacial pain conditions. This study investigated whether SGCs release glutamate and whether elevation of TG glutamate concentration alters response properties of trigeminal afferent fibers. Immunohistochemistry was used to assess glutamate content and the expression of excitatory amino acid transporter (EAAT)1 and EAAT2 in TG sections. SGCs contained glutamate and expressed EAAT1 and EAAT2. Potassium chloride (10 mM) was used to evoke glutamate release from cultured rat SGCs treated with the EAAT1/2 inhibitor (3S)-3-[[3-[[4-(trifluoromethyl)ben zoyl]amino]phenyl]methoxy]-L-aspartic acid (TFB-TBOA) or control. Treatment with TFB-TBOA (1 and 10 μM) significantly reduced the glutamate concentration from 10.6 ± 1.1 to 5.8 ± 1.4 μM and 3.0 ± 0.8 μM, respectively (p<0.05). Electrophysiology experiments were conducted in anaesthetized rats to determine the effect of intraganglionic injections of glutamate on the response properties of ganglion neurons that innervated either the temporalis or masseter muscle. Intraganglionic injection of glutamate (500 mM, 3 μl) evoked afferent discharge and significantly reduced muscle afferent mechanical threshold. Glutamate-evoked discharge was attenuated bythe N-methyl-D-aspartate receptor antagonist 2-amino-5-phosphonovalerate (APV) and increased by TFB-TBOA, whereas mechanical sensitization was only sensitive to APV. Antidromic invasion of muscle afferent fibers by electrical stimulation of the caudal brainstem (10 Hz) or local anesthesia of the brainstem with lidocaine did not alter glutamate-induced mechanical sensitization. These findings provide a novel mechanism whereby dysfunctional trigeminal SGCs could contribute to cranial muscle tenderness in

  16. SURGICAL TREATMENT OF UPPER