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Sample records for craniofacial skeletal evolution

  1. Altered FGF signalling in congenital craniofacial and skeletal disorders.

    PubMed

    Moosa, Shahida; Wollnik, Bernd

    2016-05-01

    The fibroblast growth factor (FGF) signalling pathway has been the focus of intense genetic and functional research for several decades. The emerging data implicate FGF signalling in diverse regulatory processes, both in the developing embryo as well as in the adult organism. Alterations in this tightly regulated pathway can lead to a number of pathological conditions, ranging from well-recognized congenital disorders to cancer. In order to mediate their cellular processes, FGFs signal through a subfamily of tyrosine kinase receptors, called FGF receptors (FGFRs). In humans, four FGFRs are described, and, to date, mutations in FGFR1, FGFR2, and FGFR3 have been shown to underlie human developmental disorders. FGFs/FGFRs are known to be key players in both endochondral and intramembranous bone development. In this review, we focus on the major developmental craniofacial and skeletal disorders which result from altered FGF signalling. PMID:26686047

  2. Canonical and noncanonical intraflagellar transport regulates craniofacial skeletal development.

    PubMed

    Noda, Kazuo; Kitami, Megumi; Kitami, Kohei; Kaku, Masaru; Komatsu, Yoshihiro

    2016-05-10

    The primary cilium is a cellular organelle that coordinates signaling pathways critical for cell proliferation, differentiation, survival, and homeostasis. Intraflagellar transport (IFT) plays a pivotal role in assembling primary cilia. Disruption and/or dysfunction of IFT components can cause multiple diseases, including skeletal dysplasia. However, the mechanism by which IFT regulates skeletogenesis remains elusive. Here, we show that a neural crest-specific deletion of intraflagellar transport 20 (Ift20) in mice compromises ciliogenesis and intracellular transport of collagen, which leads to osteopenia in the facial region. Whereas platelet-derived growth factor receptor alpha (PDGFRα) was present on the surface of primary cilia in wild-type osteoblasts, disruption of Ift20 down-regulated PDGFRα production, which caused suppression of PDGF-Akt signaling, resulting in decreased osteogenic proliferation and increased cell death. Although osteogenic differentiation in cranial neural crest (CNC)-derived cells occurred normally in Ift20-mutant cells, the process of mineralization was severely attenuated due to delayed secretion of type I collagen. In control osteoblasts, procollagen was easily transported from the endoplasmic reticulum (ER) to the Golgi apparatus. By contrast, despite having similar levels of collagen type 1 alpha 1 (Col1a1) expression, Ift20 mutants did not secrete procollagen because of dysfunctional ER-to-Golgi trafficking. These data suggest that in the multipotent stem cells of CNCs, IFT20 is indispensable for regulating not only ciliogenesis but also collagen intracellular trafficking. Our study introduces a unique perspective on the canonical and noncanonical functions of IFT20 in craniofacial skeletal development. PMID:27118846

  3. Enzyme Replacement for Craniofacial Skeletal Defects and Craniosynostosis in Murine Hypophosphatasia

    PubMed Central

    Liu, Jin; Campbell, Cassie; Nam, Hwa Kyung; Caron, Alexandre; Yadav, Manisha C; Millán, José Luis; Hatch, Nan E.

    2015-01-01

    Hypophosphatasia (HPP) is an inborn-error-of-metabolism disorder characterized by deficient bone and tooth mineralization due to loss-of function mutations in the gene (Alpl) encoding tissue-nonspecific alkaline phosphatase (TNAP). Alpl−/− mice exhibit many characteristics seen in infantile HPP including long bone and tooth defects, vitamin B6 responsive seizures and craniosynostosis. Previous reports demonstrated that a mineral-targeted form of TNAP rescues long bone, verterbral and tooth mineralization defects in Alpl−/− mice. Here we report that enzyme replacement with mineral-targeted TNAP (asfotase-alfa) also prevents craniosynostosis (the premature fusion of cranial bones) and additional craniofacial skeletal abnormalities in Alpl−/− mice. Craniosynostosis, cranial bone volume and density, and craniofacial shape abnormalities were assessed by microsocopy, histology, digital caliper measurements and micro CT. We found that craniofacial shape defects, cranial bone mineralization and craniosynostosis were corrected in Alpl−/− mice injected daily subcutaneously starting at birth with recombinant enzyme. Analysis of Alpl−/− calvarial cells indicates that TNAP deficiency leads to aberrant osteoblastic gene expression and diminished proliferation. Some but not all of these cellular abnormalities were rescued by treatment with inorganic phosphate. These results confirm an essential role for TNAP in craniofacial skeletal development and demonstrate the efficacy of early postnatal mineral-targeted enzyme replacement for preventing craniofacial abnormalities including craniosynostosis in murine infantile HPP. PMID:25959417

  4. Applications of Mesenchymal Stem Cells and Neural Crest Cells in Craniofacial Skeletal Research

    PubMed Central

    Ouchi, Takehito; Shibata, Shinsuke; Fujimura, Takumi; Kawana, Hiromasa; Okano, Hideyuki; Nakagawa, Taneaki

    2016-01-01

    Craniofacial skeletal tissues are composed of tooth and bone, together with nerves and blood vessels. This composite material is mainly derived from neural crest cells (NCCs). The neural crest is transient embryonic tissue present during neural tube formation whose cells have high potential for migration and differentiation. Thus, NCCs are promising candidates for craniofacial tissue regeneration; however, the clinical application of NCCs is hindered by their limited accessibility. In contrast, mesenchymal stem cells (MSCs) are easily accessible in adults, have similar potential for self-renewal, and can differentiate into skeletal tissues, including bones and cartilage. Therefore, MSCs may represent good sources of stem cells for clinical use. MSCs are classically identified under adherent culture conditions, leading to contamination with other cell lineages. Previous studies have identified mouse- and human-specific MSC subsets using cell surface markers. Additionally, some studies have shown that a subset of MSCs is closely related to neural crest derivatives and endothelial cells. These MSCs may be promising candidates for regeneration of craniofacial tissues from the perspective of developmental fate. Here, we review the fundamental biology of MSCs in craniofacial research. PMID:27006661

  5. 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

  6. Craniofacial skeletal measurements based on computed tomography: Part II. Normal values and growth trends.

    PubMed

    Waitzman, A A; Posnick, J C; Armstrong, D C; Pron, G E

    1992-03-01

    Current diagnosis and surgical correction of craniofacial anomalies would benefit from accurate quantitative and standardized points of reference. A retrospective study was undertaken to define normal values for a series of craniofacial measurements and to evaluate the growth patterns of the craniofacial complex through axial computed tomography (CT). Fifteen measurements were taken from 542 CT scan series of skeletally normal subjects. The measurement values were then divided into 1-year age categories from 1 to 17 years, and into four age groups for those under 1 year of age. The normal range and growth pattern of measurement values for the cranial vault, orbital region, and upper midface are presented. The overall size of the cranio-orbito-zygomatic skeleton reaches more than 85 percent of adult size by age 5 years. The cranial vault grows rapidly in the first year of life but growth levels off early. The upper midface grows at a slower rate in infancy, but continues to grow later in childhood and early adolescence. Knowledge of the differential growth patterns and normal measurement values in the craniofacial region will help improve diagnostic accuracy, staging of reconstruction, precision of corrective surgery, and follow-up of patients. PMID:1571345

  7. A new syndrome with craniofacial and skeletal dysmorphisms and developmental delay.

    PubMed

    Der Kaloustian, V M; Pelletier, M; Costa, T; Blackston, D R; Oudjhane, K

    2001-04-01

    We report a 16-year-old boy with multiple craniofacial and skeletal dysmorphic features including brachycephaly, acrocephaly, hypertelorism, wide palpebral fissures, broad nose, anteverted nares, broad columella, long and smooth philtrum, thin upper lip, macrostomia, carp-like mouth, micrognathia, low-set and posteriorly angulated ears with small and abnormal pinnae, a low posterior hairline, a short neck, hypoplastic and widely-spaced nipples, multiple severe pterygia, an umbilical hernia, metatarsus varus, low implantation of the halluces, and delayed motor and language development. An MRI of the head showed bilateral frontal pachygyria but no sign of heterotopia. The unique features of our patient suggest that he represents a new syndrome.

  8. A new syndrome with craniofacial and skeletal dysmorphisms and developmental delay.

    PubMed

    Der Kaloustian, V M; Pelletier, M; Costa, T; Blackston, D R; Oudjhane, K

    2001-04-01

    We report a 16-year-old boy with multiple craniofacial and skeletal dysmorphic features including brachycephaly, acrocephaly, hypertelorism, wide palpebral fissures, broad nose, anteverted nares, broad columella, long and smooth philtrum, thin upper lip, macrostomia, carp-like mouth, micrognathia, low-set and posteriorly angulated ears with small and abnormal pinnae, a low posterior hairline, a short neck, hypoplastic and widely-spaced nipples, multiple severe pterygia, an umbilical hernia, metatarsus varus, low implantation of the halluces, and delayed motor and language development. An MRI of the head showed bilateral frontal pachygyria but no sign of heterotopia. The unique features of our patient suggest that he represents a new syndrome. PMID:11311002

  9. Evolution of a developmental mechanism: species-specific regulation of the cell cycle and the timing of events during craniofacial osteogenesis

    PubMed Central

    Hall, Jane; Jheon, Andrew H.; Ealba, Erin L.; Eames, B. Frank; Butcher, Kristin D.; Mak, Siu-Shan; Ladher, Raj; Alliston, Tamara; Schneider, Richard A.

    2014-01-01

    Neural crest mesenchyme (NCM) controls species-specific pattern in the craniofacial skeleton but how this cell population accomplishes such a complex task remains unclear. To elucidate mechanisms through which NCM directs skeletal development and evolution, we made chimeras from quail and duck embryos, which differ markedly in their craniofacial morphology and maturation rates. We show that quail NCM, when transplanted into duck, maintains its faster timetable for development and autonomously executes molecular and cellular programs for the induction, differentiation, and mineralization of bone, including premature expression of osteogenic genes such as Runx2 and Col1a1. In contrast, the duck host systemic environment appears to be relatively permissive and supports osteogenesis independently by providing circulating minerals and a vascular network. Further experiments reveal that NCM establishes the timing of osteogenesis by regulating cell cycle progression in a stage- and species-specific manner. Altering the time-course of D-type cyclin expression mimics chimeras by accelerating expression of Runx2 and Col1a1. We also discover higher endogenous expression of Runx2 in quail coincident with their smaller craniofacial skeletons, and by prematurely over-expressing Runx2 in chick embryos we reduce the overall size of the craniofacial skeleton. Thus, our work suggests that NCM establishes species-specific size in the craniofacial skeleton by controlling cell cycle, Runx2 expression, and the timing of key events during osteogenesis. PMID:24262986

  10. Craniofacial morphological characteristics of Chinese adults with normal occlusion and different skeletal divergence.

    PubMed

    Xiao, Danna; Gao, Hui; Ren, Yijin

    2011-04-01

    The aim of the present study was to examine the craniofacial morphologic characteristics of different vertical dysplasias in a population of Chinese adults with normal occlusion. Sixty-nine subjects (39 males and 30 females) were selected from 800 healthy students between 18 and 24 years of age. Lateral cephalograms were obtained and 27 hard and 10 soft tissue measurements were analysed. The subjects were then divided into three groups: high angle, low angle, or control according to the value of FH-MP. Intraclass correlation coefficient was determined for the repeated measurements. One-way analysis of variance was used to determine the differences between the groups. The results showed that the low-angle group had a larger cranial basis angle (N-S-Ar) and the high-angle group had a shorter maxilla (Ans-Ptm; P < 0.01). The high-angle group displayed vertical hyperdivergency with increased PP-OP, OP-MP, gonial, and lower gonial angles, whereas the low-angle group showed significant hypodivergence with decreased values for all variables (P < 0.01). The low-angle group displayed a more protrusive chin and the high-angle group a more retrusive chin (P < 0.01). Differences in dentoalveolar measurements in the divergent groups were mainly in the anterior region. Moreover, the low-angle group had a thicker and the high-angle group a thinner lower dentoalveolus (P < 0.01). For face height measurements, the main differences in the divergent groups were at the anterior lower third (P < 0.01). Soft tissue deviations were less obvious in the high-angle group and in general less significant than those of the hard tissues in both divergent groups. Significantly different morphological characteristics exist in Chinese adults with vertical dysplasia but normal occlusion. Major skeletal cephalometric changes were found for the lower facial third. The soft tissues showed a well-adapting mechanism of soft tissue coverage for the skeletal dysplasia.

  11. Wnt signalling underlies the evolution of new phenotypes and craniofacial variability in Lake Malawi cichlids

    PubMed Central

    Parsons, Kevin J.; Taylor, A. Trent; Powder, Kara E.; Albertson, R. Craig

    2014-01-01

    Progress towards understanding adaptive radiations at the mechanistic level is still limited with regard to the proximate molecular factors that both promote and constrain evolution. Here we focus on the craniofacial skeleton and show that expanded Wnt/β-catenin signalling early in ontogeny is associated with the evolution of phenotypic novelty and ecological opportunity in Lake Malawi cichlids. We demonstrate that the mode of action of this molecular change is to effectively lock into place an early larval phenotype, likely through accelerated rates of bone deposition. However, we demonstrate further that this change toward phenotypic novelty may in turn constrain evolutionary potential through the corresponding reduction in craniofacial plasticity at later stages of ontogeny. In all, our data implicate the Wnt pathway as an important mediator of craniofacial form and offer new insights into how developmental systems can evolve to both promote and constrain evolutionary change. PMID:24699776

  12. 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

  13. Developmental mechanisms underlying variation in craniofacial disease and evolution.

    PubMed

    Fish, Jennifer L

    2016-07-15

    Craniofacial disease phenotypes exhibit significant variation in penetrance and severity. Although many genetic contributions to phenotypic variation have been identified, genotype-phenotype correlations remain imprecise. Recent work in evolutionary developmental biology has exposed intriguing developmental mechanisms that potentially explain incongruities in genotype-phenotype relationships. This review focuses on two observations from work in comparative and experimental animal model systems that highlight how development structures variation. First, multiple genetic inputs converge on relatively few developmental processes. Investigation of when and how variation in developmental processes occurs may therefore help predict potential genetic interactions and phenotypic outcomes. Second, genetic mutation is typically associated with an increase in phenotypic variance. Several models outlining developmental mechanisms underlying mutational increases in phenotypic variance are discussed using Satb2-mediated variation in jaw size as an example. These data highlight development as a critical mediator of genotype-phenotype correlations. Future research in evolutionary developmental biology focusing on tissue-level processes may help elucidate the "black box" between genotype and phenotype, potentially leading to novel treatment, earlier diagnoses, and better clinical consultations for individuals affected by craniofacial anomalies. PMID:26724698

  14. Craniofacial development of hagfishes and the evolution of vertebrates.

    PubMed

    Oisi, Yasuhiro; Ota, Kinya G; Kuraku, Shigehiro; Fujimoto, Satoko; Kuratani, Shigeru

    2013-01-10

    Cyclostomes, the living jawless vertebrates including hagfishes and lampreys, represent the most basal lineage of vertebrates. Although the monophyly of cyclostomes has been supported by recent molecular analyses, the phenotypic traits of hagfishes, especially the lack of some vertebrate-defining features and the reported endodermal origin of the adenohypophysis, have been interpreted as hagfishes exhibiting a more ancestral state than those of all other vertebrates. Furthermore, the adult anatomy of hagfishes cannot be compared easily with that of lampreys. Here we describe the craniofacial development of a series of staged hagfish embryos, which shows that their adenohypophysis arises ectodermally, consistent with the molecular phylogenetic data. This finding also allowed us to identify a pan-cyclostome pattern, one not shared by jawed vertebrates. Comparative analyses indicated that many of the hagfish-specific traits can be explained by changes secondarily introduced into the hagfish lineage. We also propose a possibility that the pan-cyclostome pattern may reflect the ancestral programme for the craniofacial development of all living vertebrates.

  15. Craniofacial skeletal measurements based on computed tomography: Part I. Accuracy and reproducibility.

    PubMed

    Waitzman, A A; Posnick, J C; Armstrong, D C; Pron, G E

    1992-03-01

    Computed tomography (CT) is a useful modality for the management of craniofacial anomalies. A study was undertaken to assess whether CT measurements of the upper craniofacial skeleton accurately represent the bony region imaged. Measurements taken directly from five dry skulls (approximate ages: adults, over 18 years; child, 4 years; infant, 6 months) were compared to those from axial CT scans of these skulls. Excellent agreement was found between the direct (dry skull) and indirect (CT) measurements. The effect of head tilt on the accuracy of these measurements was investigated. The error was within clinically acceptable limits (less than 5 percent) if the angle was no more than +/- 4 degrees from baseline (0 degrees). Objective standardized information gained from CT should complement the subjective clinical data usually collected for the treatment of craniofacial deformities. PMID:1571344

  16. Phenotypic evolution of human craniofacial morphology after admixture: a geometric morphometrics approach.

    PubMed

    Martínez-Abadías, Neus; González-José, Rolando; González-Martín, Antonio; Van der Molen, Silvina; Talavera, Arturo; Hernández, Patricia; Hernández, Miquel

    2006-03-01

    An evolutionary, diachronic approach to the phenotypic craniofacial pattern arisen in a human population after high levels of admixture and gene flow was achieved by means of geometric morphometrics. Admixture has long been studied after molecular data. Nevertheless, few efforts have been made to explain the morphological outcome in human craniofacial samples. The Spanish-Amerindian contact can be considered a good scenario for such an analysis. Here we present a comparative analysis of craniofacial shape changes observed between two putative ancestor groups, Spanish and precontact Aztecs, and two diachronic admixed groups, corresponding to early and late colonial periods from the Mexico's Central Valley. Quantitative shape comparisons of Amerindian, Spanish, and admixed groups were used to test the expectations of quantitative genetics for admixture events. In its simplest form, this prediction states that an admixed group will present phenotypic values falling between those of both parental groups. Results show that, in general terms, although the human skull is a complex, integrated structure, the craniofacial morphology observed fits the theoretical expectations of quantitative genetics. Thus, it is predictive of population structure and history. In fact, results obtained after the craniofacial analysis are in accordance with previous molecular and historical interpretations, providing evidence that admixture is a main microevolutionary agent influencing modern Mexican gene pool. However, expectations are not straightforward when moderate shape changes are considered. Deviations detected at localized structures, such as the upper and lower face, highlight the evolution of a craniofacial pattern exclusively inherent to the admixed groups, indicating that quantitative characters might respond to admixture in a complicated, nondirectional way. PMID:16323202

  17. South Amerindian craniofacial morphology: diversity and implications for Amerindian evolution.

    PubMed

    Sardi, Marina L; Ramírez Rozzi, Fernando; González-José, Rolando; Pucciarelli, Héctor M

    2005-12-01

    The most compelling models concerning the peopling of the Americas consider that modern Amerindians share a common biological pattern, showing affinities with populations of the Asian Northeast. The aim of the present study was to assess the degree of variation of craniofacial morphology of South American Amerindians in a worldwide context. Forty-three linear variables were analyzed on crania derived from American, Asian, Australo-Melanesian, European, South-Saharan African, and Polynesian regions. South America was represented by seven Amerindian samples. In order to understand morphologic diversity among Amerindians of South America, variation was estimated using regions and local populations as units of analysis. Variances and F(ST) values were calculated for each unit, respectively. Both analyses indicated that morphologic variation in Southern Amerindians is extremely high: an F(ST) of 0.01531 was obtained for Southern Amerindians, and values from 0.0371-0.1205 for other world regions. Some aspects linked to the time and mode of the peopling of the Americas and various microevolutionary processes undergone by Amerindians are discussed. Some of the alternatives proposed to explain this high variation include: a greater antiquity of the peopling than what is mostly accepted, a peopling by several highly differentiated waves, an important effect of genetic drift, and gene flow with Paleoamericans. A combination of some of these alternatives explains at least some of the variation.

  18. Milestones Contributing to the Evolution of Craniofacial Surgery.

    PubMed

    Tadisina, Kashyap Komarraju; Orra, Susan; Gharb, Bahar Bassiri; Rampazzo, Antonio; Papay, Francis; Zins, James E

    2015-11-01

    Craniofacial surgery (CFS) has a rich history of collaboration with a wide variety of surgical and nonsurgical specialties. This has resulted in a large volume of publications across this spectrum of subspecialties cataloging the advancements across the field. The authors aim to analyze the characteristics of the most cited articles in CFS. A literature search was performed using the Thomson/Reuters Web of Knowledge database to identify the top 50 most cited articles in CFS. The articles were analyzed for journal distribution, total citations, year of publication, citations per year, number of authors, type of article, institution, departmental affiliation, national affiliation, and top contributors. The articles were extracted from an assortment of 21 journals. The number of citations per article ranged from 115 to 1092 (average of 185). Forty-eight percent of articles were published in the 1990s, and 22% in the 2000s. The average number of years since publication until the present time was 21.34 (range 6-45 y). The most cited article (1092 citations and 52 citations/y) was an article by McCarthy et al on human mandible lengthening via gradual distraction. Departmental distribution indicated that the majority were attributable to departments of Plastic and Reconstructive Surgery for 21 articles (42%). Twenty articles were categorized under cranial defect/bone substitutes, 12 under craniosynostosis, 7 under surgical modeling, 6 under distraction osteogenesis, and the remaining 5 under other. These articles qualitatively represent important milestones in CFS. This study affirms the potential value of "number of citations" as a meaningful metric when assessing the importance of an article within CFS.

  19. The Dlx5 and Dlx6 homeobox genes are essential for craniofacial, axial, and appendicular skeletal development.

    PubMed

    Robledo, Raymond F; Rajan, Lakshmi; Li, Xue; Lufkin, Thomas

    2002-05-01

    Dlx homeobox genes are mammalian homologs of the Drosophila Distal-less (Dll) gene. The Dlx/Dll gene family is of ancient origin and appears to play a role in appendage development in essentially all species in which it has been identified. In Drosophila, Dll is expressed in the distal portion of the developing appendages and is critical for the development of distal structures. In addition, human Dlx5 and Dlx6 homeobox genes have been identified as possible candidate genes for the autosomal dominant form of the split-hand/split-foot malformation (SHFM), a heterogeneous limb disorder characterized by missing central digits and claw-like distal extremities. Targeted inactivation of Dlx5 and Dlx6 genes in mice results in severe craniofacial, axial, and appendicular skeletal abnormalities, leading to perinatal lethality. For the first time, Dlx/Dll gene products are shown to be critical regulators of mammalian limb development, as combined loss-of-function mutations phenocopy SHFM. Furthermore, spatiotemporal-specific transgenic overexpression of Dlx5, in the apical ectodermal ridge of Dlx5/6 null mice can fully rescue Dlx/Dll function in limb outgrowth. PMID:12000792

  20. 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.

  1. 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. PMID:25449953

  2. Adipose-Derived Stem Cells: A Review of Signaling Networks Governing Cell Fate and Regenerative Potential in the Context of Craniofacial and Long Bone Skeletal Repair

    PubMed Central

    Senarath-Yapa, Kshemendra; McArdle, Adrian; Renda, Andrea; Longaker, Michael T.; Quarto, Natalina

    2014-01-01

    Improvements in medical care, nutrition and social care are resulting in a commendable change in world population demographics with an ever increasing skew towards an aging population. As the proportion of the world’s population that is considered elderly increases, so does the incidence of osteodegenerative disease and the resultant burden on healthcare. The increasing demand coupled with the limitations of contemporary approaches, have provided the impetus to develop novel tissue regeneration therapies. The use of stem cells, with their potential for self-renewal and differentiation, is one potential solution. Adipose-derived stem cells (ASCs), which are relatively easy to harvest and readily available have emerged as an ideal candidate. In this review, we explore the potential for ASCs to provide tangible therapies for craniofacial and long bone skeletal defects, outline key signaling pathways that direct these cells and describe how the developmental signaling program may provide clues on how to guide these cells in vivo. This review also provides an overview of the importance of establishing an osteogenic microniche using appropriately customized scaffolds and delineates some of the key challenges that still need to be overcome for adult stem cell skeletal regenerative therapy to become a clinical reality. PMID:24865492

  3. Evolution of the miR199-214 cluster and vertebrate skeletal development

    PubMed Central

    Desvignes, Thomas; Contreras, Adam; Postlethwait, John H

    2014-01-01

    MicroRNA (miRs) are short non-coding RNAs that fine-tune the regulation of gene expression to coordinate a wide range of biological processes. MicroRNAs are transcribed from miR genes and primary miR transcripts are processed to approximately 22 nucleotide single strand mature forms that function as repressors of transcript translation when bound to the 3′UTR of protein coding transcripts in association with the RISC. Because of their role in the regulation of gene expression, miRs are essential players in development by acting on cell fate determination and progression toward cell differentiation. The miR199 and miR214 genes occupy an intronic cluster located on the opposite strand of the Dynamin3 gene. These miRNAs play major roles in a broad variety of developmental processes and diseases, including skeletal development and several types of cancer. In the work reported here, we first deciphered the origin of the miR199 and miR214 families by following evolution of miR paralogs and their host Dynamin paralogs. We then examined the expression patterns of miR199 and miR214 in developing zebrafish embryos and demonstrated their regulation through a common primary transcript. Results suggest an evolutionarily conserved regulation across vertebrate lineages. Our expression study showed predominant expression patterns for both miR in tissues surrounding developing craniofacial skeletal elements consistent with expression data in mouse and human, thus indicating a conserved role of miR199 and miR214 in vertebrate skeletogenesis. PMID:24643020

  4. 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

  5. Craniofacial Abnormalities

    MedlinePlus

    ... of the skull and face. Craniofacial abnormalities are birth defects of the face or head. Some, like cleft ... palate, are among the most common of all birth defects. Others are very rare. Most of them affect ...

  6. 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.

  7. 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

  8. 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

  9. 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

  10. Stereolithography for craniofacial surgery.

    PubMed

    Sinn, Douglas P; Cillo, Joseph E; Miles, Brett A

    2006-09-01

    Advances in computer technology have aided in the diagnostic and clinical management of complex congenital craniofacial deformities. The use of stereolithographic models has begun to replace traditional milled models in the treatment of craniofacial deformities. Research has shown that stereolithography models are highly accurate and provide added information in treatment planning for the correction of craniofacial deformities. These include the added visualization of the complex craniofacial anatomy and preoperative surgical planning with a highly accurate three-dimensional model. While the stereolithographic process has had a beneficial impact on the field of craniofacial surgery, the added cost of the procedure continues to be a hindrance to its widespread acceptance in clinical practice. With improved technology and accessibility the utilization of stereolithography in craniofacial surgery is expected to increase. This review will highlight the development and current usage of stereolithography in craniofacial surgery and provide illustration of it use.

  11. 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. PMID:23016907

  12. Forelimb skeletal morphology and flight mode evolution in pelecaniform birds.

    PubMed

    Simons, Erin L R

    2010-01-01

    The total length and mid-shaft diameters of wing elements of 50 species of pelecaniform birds were examined to investigate how forelimb skeletal morphology varies with body size and flight mode within this group. Pelecaniforms were assigned to flight mode categories based on primary habitual behaviors (soar, flap-glide, continuous flap). Allometric and discriminant function analyses were conducted on wing element variables in both historical (using independent contrasts) and ahistorical contexts. Results of this study indicate that when phylogenetic relationships are taken into account, only the length of the ulna scales with positive allometry, whereas all other variables exhibit isometry. These results differ from the ahistorical allometric analysis. Discriminant function analysis (DFA) significantly separated the flight mode groups (Wilk's lambda=0.002, p<0.00001), with only six individuals from two species (out of n=284) misclassified. Results of historical canonical variates analysis supported the ahistorical DFA and identified two carpometacarpal (CMC) variables as important for separating the flight mode groups: dorsoventral CMC diameter and total CMC length. The carpometacarpus is that portion of the forelimb skeleton that serves as the attachment point for the primary flight feathers, and thus, that portion of the airfoil surface that mediates detailed flight control. Its morphology, more than any other element, reflects differences in flight mode in pelecaniforms. Results of this study indicate that, in pelecaniforms, wing bones generally exhibit isometry (with the exception of the ulna) and do possess specific morphologies reflective of the demands associated with different types of aerial locomotor specialization.

  13. 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.

  14. Evolution of the parathyroid hormone family and skeletal formation pathways.

    PubMed

    Danks, Janine A; D'Souza, Damian G; Gunn, Haley J; Milley, Kristi M; Richardson, Samantha J

    2011-01-01

    Bone is considered to be a feature of higher vertebrates and one of the features that was required for the movement from water onto land. But there are a number of evolutionarily important species that have cartilaginous skeletons, including sharks. Both bony and cartilaginous fish are believed to have a common ancestor who had a bony skeleton. A number of factors and pathways have been shown to be involved in the development and maintenance of bony skeleton including the Wnt pathway and the parathyroid hormone gene family. The study of these pathways and factors in cartilaginous animals may shed light on the evolution of the vertebrate skeleton. PMID:21074535

  15. 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.

  16. 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. PMID:25851205

  17. 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.

  18. Craniofacial Surgery Fellowship Websites.

    PubMed

    Silvestre, Jason; Agarwal, Divyansh; Taylor, Jesse A

    2016-06-01

    Applicants for craniofacial surgery fellowships utilize Internet-based resources like the San Francisco (SF) Match to manage applications. The purpose of this study was to evaluate the accessibility and content of craniofacial surgery fellowship websites (CSFWs). A list of available craniofacial surgery fellowships was compiled from directories of the American Society of Craniofacial Surgery (ACSFS) and SF Match. Accessibility of CSFWs was assessed via links from these directories and a Google search. Craniofacial surgery fellowship websites were evaluated on education and recruitment content and compared via program characteristics. Twenty-four of the 28 US-based craniofacial surgery fellowship programs had a CSFW (86%). The ACSFS and SF Match databases had limited CSFW accessibility, but a Google search revealed most CSFWs had the top search result (76%). In total, CSFWs provided an average of 39% of education and recruitment variables. While most programs provided fellowship program descriptions (96%), application links (96%), and faculty listings (83%), relatively few provided rotation schedules (13%), fellow selection process information (13%), or interview dates (8%). CSFW content did not vary by program location, faculty size, accreditation status, or institutional affiliations (P > 0.05). Craniofacial surgery fellowships often lack readily accessible websites from national program lists and have limited information for interested applicants. The consistent lack of online information across programs suggests future opportunities exist to improve these educational resources. PMID:27285892

  19. Craniofacial distraction osteogenesis.

    PubMed

    Winters, Ryan; Tatum, Sherard A

    2014-11-01

    Distraction osteogenesis (DO) may be the most versatile tool to become available to the craniofacial surgeon in recent years. It can be used in an ever-expanding register of clinical scenarios and offers major advantages over conventional craniofacial techniques in some circumstances. Craniofacial surgery has significant complications, some of which can be mitigated but not eliminated by choosing DO over conventional approaches. Although some DO applications are in their infancy with limited data, this article provides an overview of current uses of this versatile technology.

  20. Craniofacial shape transition across the house mouse hybrid zone: implications for the genetic architecture and evolution of between-species differences.

    PubMed

    Pallares, Luisa F; Turner, Leslie M; Tautz, Diethard

    2016-06-01

    Craniofacial shape differences between taxa have often been linked to environmental adaptation, e.g., new food sources, or have been studied in the context of domestication. Evidence for the genetic basis of such phenotypic differences to date suggests that between-species as well as between-population variation has an oligogenic basis, i.e., few loci of large effect explain most of the variation. In mice, it has been shown that within-population craniofacial variation has a highly polygenic basis, but there are no data regarding the genetic basis of between-species differences in natural populations. Here, we address this question using a phenotype-focused approach. Using 3D geometric morphometrics, we phenotyped a panel of mice derived from a natural hybrid zone between Mus musculus domesticus and Mus mus musculus and quantify the transition of craniofacial shape along the hybridization gradient. We find a continuous shape transition along the hybridization gradient and unaltered developmental stability associated with hybridization. This suggests that the morphospace between the two subspecies is continuous despite reproductive isolation and strong barriers to gene flow. We show that quantitative changes in overall genome composition generate quantitative changes in craniofacial shape; this supports a highly polygenic basis for between-species craniofacial differences in the house mouse. We discuss our findings in the context of oligogenic versus polygenic models of the genetic architecture of morphological traits. PMID:27216933

  1. 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.

  2. 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. PMID:25487155

  3. Craniofacial malformation among endemic cretins in Ecuador.

    PubMed

    Israel, H; Johnson, G F; Fierro-Benitez, R

    1983-01-01

    Nearly 6% of the inhabitants of two villages in Ecuador are deaf-mute and mentally retarded cretins. These communities are situated in the Andean highlands where environmental and dietary stores of iodine are extremely scarce. Endemic goiter and cretinism are widespread, and 10% of the cretins are additionally burdened with dwarfism and facial dysmorphia. Those with obvious involvement of the skeletal system were selected in order to study the extent of craniofacial malformation. Their appearance is characterized by midface hypoplasia, a broad nose with a depressed bridge, and a conspicuous circumoral prominence. Radiographic evaluation demonstrates a vertical displacement of the cranial base with an associated upward tilt of the midface. The flattened frontal bone, reduced frontal sinus pneumatization, and diminutive nasal bones collectively create a backward sloping face. The defect in the craniofacial skeleton of these Ecuadorian cretins is characteristic, and it readily sets them apart from the dysmorphism of those cretins with myxedema. PMID:6874895

  4. Cell autonomous roles of Nedd4 in craniofacial bone formation.

    PubMed

    Wiszniak, Sophie; Harvey, Natasha; Schwarz, Quenten

    2016-02-01

    Nedd4 is an E3 ubiquitin ligase that has an essential role in craniofacial development. However, how and when Nedd4 controls skull formation is ill defined. Here we have used a collection of complementary genetic mouse models to dissect the cell-autonomous roles of Nedd4 in the formation of neural crest cell derived cranial bone. Removal of Nedd4 specifically from neural crest cells leads to profound craniofacial defects with marked reduction of cranial bone that was preceded by hypoplasia of bone forming osteoblasts. Removal of Nedd4 after differentiation of neural crest cells into progenitors of chondrocytes and osteoblasts also led to profound deficiency of craniofacial bone in the absence of cartilage defects. Notably, these skull malformations were conserved when Nedd4 was specifically removed from the osteoblast lineage after specification of osteoblast precursors from mesenchymal skeletal progenitors. We further show that absence of Nedd4 in pre-osteoblasts results in decreased cell proliferation and altered osteogenic differentiation. Taken together our data demonstrate a novel cell-autonomous role for Nedd4 in promoting expansion of the osteoblast progenitor pool to control craniofacial development. Nedd4 mutant mice therefore represent a unique mouse model of craniofacial anomalies that provide an ideal resource to explore the cell-intrinsic mechanisms of neural crest cells in craniofacial morphogenesis. PMID:26681395

  5. The old and new face of craniofacial research: How animal models inform human craniofacial genetic and clinical data.

    PubMed

    Van Otterloo, Eric; Williams, Trevor; Artinger, Kristin Bruk

    2016-07-15

    The craniofacial skeletal structures that comprise the human head develop from multiple tissues that converge to form the bones and cartilage of the face. Because of their complex development and morphogenesis, many human birth defects arise due to disruptions in these cellular populations. Thus, determining how these structures normally develop is vital if we are to gain a deeper understanding of craniofacial birth defects and devise treatment and prevention options. In this review, we will focus on how animal model systems have been used historically and in an ongoing context to enhance our understanding of human craniofacial development. We do this by first highlighting "animal to man" approaches; that is, how animal models are being utilized to understand fundamental mechanisms of craniofacial development. We discuss emerging technologies, including high throughput sequencing and genome editing, and new animal repository resources, and how their application can revolutionize the future of animal models in craniofacial research. Secondly, we highlight "man to animal" approaches, including the current use of animal models to test the function of candidate human disease variants. Specifically, we outline a common workflow deployed after discovery of a potentially disease causing variant based on a select set of recent examples in which human mutations are investigated in vivo using animal models. Collectively, these topics will provide a pipeline for the use of animal models in understanding human craniofacial development and disease for clinical geneticist and basic researchers alike.

  6. 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

  7. Modelling the effect of repositioning on the evolution of skeletal muscle damage in deep tissue injury.

    PubMed

    Demol, Jan; Deun, Dorien Van; Haex, Bart; Oosterwyck, Hans Van; Sloten, Jos Vander

    2013-04-01

    Deep tissue injury (DTI) is a localized area of tissue necrosis that originates in the subcutaneous layers under an intact skin and tends to develop when soft tissue is compressed for a prolonged period of time. In clinical practice, DTI is particularly common in bedridden patients and remains a serious issue in todays health care. Repositioning is generally considered to be an effective preventive measure of pressure ulcers. However, limited experimental research and no computational studies have been undertaken on this method. In this study, a methodology was developed to evaluate the influence of different repositioning intervals on the location, size and severity of DTI in bedridden patients. The spatiotemporal evolution of compressive stresses and skeletal muscle viability during the first 48 h of DTI onset was simulated for repositioning schemes in which a patient is turned every 2, 3, 4 or 6 h. The model was able to reproduce important experimental findings, including the morphology and location of DTI in human patients as well as the discrepancy between the internal tissue loads and the contact pressure at the interface with the environment. In addition, the model indicated that the severity and size of DTI were reduced by shortening the repositioning intervals. In conclusion, the computational framework presented in this study provides a promising modelling approach that can help to objectively select the appropriate repositioning scheme that is effective and efficient in the prevention of DTI.

  8. Fgf8 haploinsufficiency results in distinct craniofacial defects in adult zebrafish.

    PubMed

    Albertson, R Craig; Yelick, Pamela C

    2007-06-15

    Significant progress has been made toward understanding the role of fgf8 in directing early embryonic patterning of the pharyngeal skeleton. Considerably less is known about the role this growth factor plays in the coordinated development, growth, and remodeling of the craniofacial skeleton beyond embryonic stages. To better understand the contributions of fgf8 in the formation of adult craniofacial architecture, we analyzed the skeletal anatomy of adult ace(ti282a)/fgf8 heterozygous zebrafish. Our results revealed distinct skeletal defects including facial asymmetries, aberrant craniofacial geometry, irregular patterns of cranial suturing, and ectopic bone formation. These defects are similar in presentation to several human craniofacial disorders (e.g., craniosynostosis, hemifacial microsomia), and may be related to increased levels of bone metabolism observed in ace(ti282a)/fgf8 heterozygotes. Moreover, skeletal defects observed in ace(ti282a)/fgf8 heterozygotes are consistent with expression patterns of fgf8 in the mature craniofacial skeleton. These data reveal previously unrecognized roles for fgf8 during skeletogenesis, and provide a basis for future investigations into the mechanisms that regulate craniofacial development beyond the embryo. PMID:17448458

  9. Advances in craniofacial surgery.

    PubMed

    Tatum, Sherard A; Losquadro, William D

    2008-01-01

    The past 10 years have witnessed many advances in craniofacial surgery. Advances in surgical techniques, such as distraction osteogenesis and endoscopic procedures, combined with refinements in surgical equipment, such as resorbable plating and distractors, have improved surgical outcomes, while minimizing morbidity. Technological advances in 3-dimensional imaging, computer simulation, and intraoperative navigation facilitate diagnosis, preoperative planning, and surgical execution. Rising cases of deformational plagiocephaly owing to increased supine infant sleep positioning necessitated the development of appropriate diagnosis and treatment and the avoidance of unnecessary surgery. A greater understanding of the genetic basis of craniofacial disorders has allowed better preoperative assessment and counseling. Finally, efforts to develop better bone graft substitutes with gene therapy and nanotechnology are ongoing. PMID:19018057

  10. 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

  11. Neurosurgery: Skull Base Craniofacial Trauma.

    PubMed

    Donald, Paul J

    2016-10-01

    Much of craniofacial trauma involves the frontal sinuses. Because of its response to injury, the frontal sinus mucosa has an innate ability to develop mucoceles, and if infected, mucopyocoeles. This article presents a therapeutic algorithm for all forms of craniofacial trauma with concentration on the most severe injury-the through and through fracture and its surgical remediation. PMID:27648398

  12. Craniofacial fibrous dysplasia.

    PubMed

    Ricalde, Pat; Magliocca, Kelly R; Lee, Janice S

    2012-08-01

    Despite recent advances in the understanding of the natural history and molecular abnormalities, many questions remain surrounding the progression and management of fibrous dysplasia (FD). In the absence of comorbidities, the expected behavior of craniofacial FD (CFD) is to be slow growing and without functional consequence. Understanding of the pathophysiologic mechanisms contributing to the various phenotypes of this condition, as well as the predictors of the different behaviors of FD lesions, must be improved. Long-term follow-up of patients with CFD is vital because spontaneous recovery is unlikely, and the course of disease can be unpredictable. PMID:22771278

  13. Evolution of a unique predatory feeding apparatus: functional anatomy, development and a genetic locus for jaw laterality in Lake Tanganyika scale-eating cichlids

    PubMed Central

    2010-01-01

    Background While bilaterality is a defining characteristic of triploblastic animals, several assemblages have managed to break this symmetry in order to exploit the adaptive peaks garnered through the lateralization of behaviour or morphology. One striking example of an evolved asymmetry in vertebrates comes from a group of scale-eating cichlid fishes from Lake Tanganyika. Members of the Perissodini tribe of cichlid fishes have evolved dental and craniofacial asymmetries in order to more effectively remove scales from the left or right flanks of prey. Here we examine the evolution and development of craniofacial morphology and laterality among Lake Tanganyika scale-eating cichlids. Results Using both geometric and traditional morphometric methods we found that the craniofacial evolution in the Perissodini involved discrete shifts in skeletal anatomy that reflect differences in habitat preference and predation strategies. Further, we show that the evolutionary history of the Perissodini is characterized by an accentuation of craniofacial laterality such that certain taxa show elaborate sided differences in craniofacial shape consistent with the sub-partitioning of function between sides of the head during attacks. Craniofacial laterality in the scale-eating specialist Perissodus microlepis was found to be evident early in development and exhibited a unimodal distribution, which is contrary to the adult condition where jaw laterality has been described as a discrete, bimodal antisymmetry. Finally, using linkage and association analyses we identified a conserved locus for jaw handedness that segregates among East African cichlids. Conclusions We suggest that, during the evolution of the Perissodini, selection has accentuated a latent, genetically determined handedness of the craniofacial skeleton, enabling the evolution of jaw asymmetries in order to increase predation success. Continued work on the developmental genetic basis of laterality in the Perissodini will

  14. 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.

  15. 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.

  16. [Craniofacial growth. 1. Critical review of the most authoritative current knowledge].

    PubMed

    Oyen, O J

    1989-01-01

    After an analysis of the knowledge of today about the cranio-facial growth, the author presents a theory of the structural function as a proper conclusion of the change from a genetic hypothesis to a functional matrix. This theory will explain some skeletal modifications that before were incomprehensible.

  17. 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

  18. 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.

  19. 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.

  20. 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 ...

  1. 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

  2. Congenital craniofacial asymmetry: early treatment.

    PubMed

    Whitaker, L A; Schut, L; Rosen, H M

    1981-01-01

    Congenital craniofacial asymmetry has two dominant causes: isolated synostosis and craniofacial clefts. Treatment considerations in these problems differ from those with isolated cranial or isolated facial defects. Isolated cranial defects are most frequently treated by the neurosurgeon with craniectomy alone. Isolated facial asymmetry when congenital in origin usually manifests as hemifacial microsomia and based on our experience with 40 such patients, is best treated in later childhood. Treatment timing of craniofacial asymmetry varies with the cause, but is best done in the first two years of life. Nasofrontal encephaloceles are usually best treated in the first few weeks of life; synostosis syndromes are treated at six months of age after the facial sutures have had time to stabilize sufficiently for adequate dissection and mobilization; and other craniofacial clefts at approximately two years of age following descent of the teeth and better homeostatic capability of the patient. Based on our series of 58 patients, 40 treated with isolated synostosis at less than one year of age, eight at more than one year of age, and ten patients with craniofacial clefts, the guidelines for timing and methods of treatment have evolved. Liberal use of craniectomy bone with expected regrowth is possible in the first year of life, and more limited use in the second year of life. This bone is used to hold the repositioned orbit, augment hypoplastic zygomas, and reconstruct noses, or for other uses. In isolated synostosis, repositioning provides a form of immediate catch-up growth then proceeds normally. In craniofacial clefts, repositioning puts structures into normal relations and growth likewise proceeds normally. The isolated synostosis syndromes treated at a later age are done with more difficulty, though may be effectively cared for. Complications other than incomplete structural correction have been nonexistent in the group two years of age and less.

  3. 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.

  4. 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

  5. Craniofacial muscle engineering using a 3-dimensional phosphate glass fibre construct.

    PubMed

    Shah, R; Sinanan, A C M; Knowles, J C; Hunt, N P; Lewis, M P

    2005-05-01

    The current technique to replace missing craniofacial skeletal muscle is the surgical transfer of local or free flaps. This is associated with donor site morbidity, possible tissue rejection and limited supply. The alternative is to engineer autologous skeletal muscle in vitro, which can then be re-implanted into the patient. A variety of biomaterials have been used to engineer skeletal muscle with limited success. This study investigated the use of phosphate-based glass fibres as a potential scaffold material for the in vitro engineering of craniofacial skeletal muscle. Human masseter (one of the muscles of mastication)--derived cell cultures were used to seed the glass fibres, which were arranged into various configurations. Growth factors and matrix components were to used to manipulate the in vitro environment. Outcome was determined with the aid of microscopy, time-lapse footage, immunofluorescence imaging and CyQUANT proliferation, creatine kinase and protein assays. A 3-dimensional mesh arrangement of the glass fibres was the best at encouraging cell attachment and proliferation. In addition, increasing the density of the seeded cells and using Matrigel and insulin-like growth factor I enhanced the formation of prototypic muscle fibres. In conclusion, phosphate-based glass fibres can support the in vitro engineering of human craniofacial muscle.

  6. 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

  7. 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

  8. 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.

  9. 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

  10. Assessing Species-specific Contributions To Craniofacial Development Using Quail-duck Chimeras

    PubMed Central

    Fish, Jennifer L.; Schneider, Richard A.

    2014-01-01

    The generation of chimeric embryos is a widespread and powerful approach to study cell fates, tissue interactions, and species-specific contributions to the histological and morphological development of vertebrate embryos. In particular, the use of chimeric embryos has established the importance of neural crest in directing the species-specific morphology of the craniofacial complex. The method described herein utilizes two avian species, duck and quail, with remarkably different craniofacial morphology. This method greatly facilitates the investigation of molecular and cellular regulation of species-specific pattern in the craniofacial complex. Experiments in quail and duck chimeric embryos have already revealed neural crest-mediated tissue interactions and cell-autonomous behaviors that regulate species-specific pattern in the craniofacial skeleton, musculature, and integument. The great diversity of neural crest derivatives suggests significant potential for future applications of the quail-duck chimeric system to understanding vertebrate development, disease, and evolution. PMID:24962088

  11. 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

  12. 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. PMID:26457586

  13. Craniofacial reconstruction following oncologic resection.

    PubMed

    Hanasono, Matthew M; Hofstede, Theresa M

    2013-01-01

    The ability to reliably reconstruct complex and sizable wounds has decreased the morbidity of skull base surgery substantially, preventing major complications and allowing treatment of tumors previously considered inoperable. Addressing facial nerve function with static and dynamic procedures as well as fabrication of craniofacial prostheses to replace delicate facial landmarks has further increased surgeons' ability to restore the appearance and function of the face. PMID:23174362

  14. [Growth and morphogenesis of the craniofacial bones. Applications in orthodontics. The concepts of J. Delaire].

    PubMed

    Lautrou, Alain

    2002-03-01

    The present report about J. Delaire's lecture summarizes his approach to: the nature and physiology of the membranous sutures, the "neural" and "adaptive" growth of the cranial base, the "central" and "cortical" development of the maxillary, the role of the premaxillary "skeletal entity" in the development of the anterior part of the face, the "bifocal" development of the mandible, the architectural balance of the craniofacial set (leading to the author's cephalometric analysis).

  15. 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

    2010-11-01

    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.

  16. 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

    2010-11-01

    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. PMID:20956304

  17. 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

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

    PubMed

    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

    2014-08-01

    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 harboring 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 noncoding elements contribute to the craniofacial regulation of SOX9 expression, and that their disruption results in PRS.

  19. 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

  20. The ribosome biogenesis factor Nol11 is required for optimal rDNA transcription and craniofacial development in Xenopus.

    PubMed

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

    2015-03-01

    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

  1. 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

  2. Craniofacial skeletal defects of adult zebrafish glypican 4 (knypek) mutants

    PubMed Central

    LeClair, Elizabeth E.; Mui, Stephanie R.; Huang, Angela; Topczewska, Jolanta M.; Topczewski, Jacek

    2010-01-01

    The heparan sulfate proteoglycan Glypican 4 (Gpc4) is part of the Wnt/planar cell polarity pathway, which is required for convergence and extension during zebrafish gastrulation. To observe Glypican 4-deficient phenotypes at later stages, we rescued gpc4−/− (knypek) homozygotes and raised them for more than one year. Adult mutants showed diverse cranial malformations of both dermal and endochondral bones, ranging from shortening of the rostral-most skull to loss of the symplectic. Additionally, the adult palatoquadrate cartilage was disorganized, with abnormal chondrocyte orientation. To understand how the palatoquadrate cartilage normally develops, we examined a juvenile series of wild type and mutant specimens. This identified two novel domains of elongated chondrocytes in the larval palatoquadrate, which normally form prior to endochondral ossification. In contrast, gpc4−/− larvae never form these domains, suggesting a failure of chondrocyte orientation, though not differentiation. Our findings implicate Gpc4 in the regulation of zebrafish cartilage and bone morphogenesis. PMID:19777561

  3. Paget's disease with craniofacial and skeletal bone involvement.

    PubMed

    Rai, Narendra Prakash; Anekar, Jayaprasad; Mustafa, Shabil Mohamed; Devang Divakar, Darshan

    2016-01-01

    Paget's disease is a metabolic disorder of bone caused due to defect in the remodelling process and is very common in western countries but is very rare in Asians and Africans. It was first described by a British scientist Sir James Paget in 1877. It can be monostotic or polyostotic depending on the number of bones involved. It most commonly affects older people of more than 50 years. Disease involvement can be symptomatic or asymptomatic depending on the extent of the disease process. Diagnosis of Paget's disease can be made by raised serum alkaline phosphatase levels, radiological examination and by radioisotope bone scans. PMID:27587747

  4. Clinical guidelines for the management of craniofacial fibrous dysplasia.

    PubMed

    Lee, J S; FitzGibbon, E J; Chen, Y R; Kim, H J; Lustig, L R; Akintoye, S O; Collins, M T; Kaban, L B

    2012-05-24

    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

  5. 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

  6. Biomimetic approaches to complex craniofacial defects

    PubMed Central

    Teven, Chad M.; Fisher, Sean; Ameer, Guillermo A.; He, Tong-Chuan; Reid, Russell R.

    2015-01-01

    The primary goals of craniofacial reconstruction include the restoration of the form, function, and facial esthetics, and in the case of pediatric patients, respect for craniofacial growth. The surgeon, however, faces several challenges when attempting a reconstructive cranioplasty. For that reason, craniofacial defect repair often requires sophisticated treatment strategies and multidisciplinary input. In the ideal situation, autologous tissue similar in structure and function to that which is missing can be utilized for repair. In the context of the craniofacial skeleton, autologous cranial bone, or secondarily rib, iliac crest, or scapular bone, is most favorable. Often, this option is limited by the finite supply of available bone. Therefore, alternative strategies to repair craniofacial defects are necessary. In the field of regenerative medicine, tissue engineering has emerged as a promising concept, and several methods of bone engineering are currently under investigation. A growth factor-based approach utilizing bone morphogenetic proteins (BMPs) has demonstrated stimulatory effects on cranial bone and defect repair. When combined with cell-based and matrix-based models, regenerative goals can be optimized. This manuscript intends to review recent investigations of tissue engineering models used for the repair of craniofacial defects with a focus on the role of BMPs, scaffold materials, and novel cell lines. When sufficient autologous bone is not available, safe and effective strategies to engineer bone would allow the surgeon to meet the reconstructive goals of the craniofacial skeleton. PMID:26389027

  7. 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.

  8. Advances in Bioprinting Technologies for Craniofacial Reconstruction.

    PubMed

    Visscher, Dafydd O; Farré-Guasch, Elisabet; Helder, Marco N; Gibbs, Susan; Forouzanfar, Tymour; van Zuijlen, Paul P; Wolff, Jan

    2016-09-01

    Recent developments in craniofacial reconstruction have shown important advances in both the materials and methods used. While autogenous tissue is still considered to be the gold standard for these reconstructions, the harvesting procedure remains tedious and in many cases causes significant donor site morbidity. These limitations have subsequently led to the development of less invasive techniques such as 3D bioprinting that could offer possibilities to manufacture patient-tailored bioactive tissue constructs for craniofacial reconstruction. Here, we discuss the current technological and (pre)clinical advances of 3D bioprinting for use in craniofacial reconstruction and highlight the challenges that need to be addressed in the coming years.

  9. 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. PMID:25240663

  10. Advances in Bioprinting Technologies for Craniofacial Reconstruction.

    PubMed

    Visscher, Dafydd O; Farré-Guasch, Elisabet; Helder, Marco N; Gibbs, Susan; Forouzanfar, Tymour; van Zuijlen, Paul P; Wolff, Jan

    2016-09-01

    Recent developments in craniofacial reconstruction have shown important advances in both the materials and methods used. While autogenous tissue is still considered to be the gold standard for these reconstructions, the harvesting procedure remains tedious and in many cases causes significant donor site morbidity. These limitations have subsequently led to the development of less invasive techniques such as 3D bioprinting that could offer possibilities to manufacture patient-tailored bioactive tissue constructs for craniofacial reconstruction. Here, we discuss the current technological and (pre)clinical advances of 3D bioprinting for use in craniofacial reconstruction and highlight the challenges that need to be addressed in the coming years. PMID:27113634

  11. Stem Cells in Teeth and Craniofacial Bones

    PubMed Central

    Zhao, H.; Chai, Y.

    2015-01-01

    Stem cells are remarkable, and stem cell–based tissue engineering is an emerging field of biomedical science aiming to restore damaged tissue or organs. In dentistry and reconstructive facial surgery, it is of great interest to restore lost teeth or craniofacial bone defects using stem cell–mediated therapy. In the craniofacial region, various stem cell populations have been identified with regeneration potential. In this review, we provide an overview of the current knowledge concerning the various types of tooth- and craniofacial bone–related stem cells and discuss their in vivo identities and regulating mechanisms. PMID:26350960

  12. [Relationship between endocrinology and craniofacial growth. I: Puberty and craniofacial growth. II: Growth of the craniofacial skeleton].

    PubMed

    Verdonck, A; De Ridder, L; De Zegher, F; Carine, C; Carels, C

    1994-12-01

    In this literature, a review is given of the endocrinology and morphology of the craniofacial complex. This article reviews in a first part the endocrinology of puberty and general growth aspects. Afterwards the adolescence growth spurt of the face and the hormonal regulation will be focused. In a second part the morphogenetic aspects together with growth area's and growth theories of the craniofacial complex will be discussed. At last a detailed description of the maxillary and mandibular growth is given.

  13. Orthognathic Surgery in Craniofacial Microsomia: Treatment Algorithm

    PubMed Central

    Valladares, Salvador; Torrealba, Ramón; Nuñez, Marcelo; Uribe, Francisca

    2015-01-01

    Summary: Craniofacial microsomia is a broad term that covers a variety of craniofacial malformation conditions that are caused by alterations in the derivatives of the first and second pharyngeal arches. In general terms, diverse therapeutic alternatives are proposed according to the growth stage and the severity of the alteration. When craniofacial growth has concluded, conventional orthognathic surgery (Le Fort I osteotomy, bilateral sagittal split osteotomy, and genioplasty) provides good alternatives for MI and MIIA type cases. Reconstruction of the mandibular ramus and temporomandibular joint before orthognathic surgery is the indicated treatment for cases MIIB and MIII. The goal of this article is to establish a surgical treatment algorithm for orthognathic surgery on patients with craniofacial microsomia, analyzing the points that allow the ideal treatment for each patient to be chosen. PMID:25674375

  14. Newborn craniofacial malformations: orofacial clefting and craniosynostosis.

    PubMed

    Hamm, J Austin; Robin, Nathaniel H

    2015-06-01

    Craniofacial malformations are among the most common birth defects. Although most cases of orofacial clefting and craniosynostosis are isolated and sporadic, these abnormalities are associated with a wide range of genetic syndromes, and making the appropriate diagnosis can guide management and counseling. Patients with craniofacial malformation are best cared for in a multidisciplinary clinic that can coordinate the care delivered by a diverse team of providers.

  15. A comprehensive analysis of craniofacial trauma.

    PubMed

    Hussain, K; Wijetunge, D B; Grubnic, S; Jackson, I T

    1994-01-01

    A review of the literature identified a need for a prospective study of the complete range of craniofacial trauma. The aims of this study were to determine the incidence, etiology, and mechanisms of craniofacial and associated injuries, enabling a greater understanding of their range and magnitude. Nine hundred fifty consecutive patients seen at an urban university hospital with any degree of craniofacial trauma were prospectively investigated. Craniofacial trauma was found to be very common at all ages. The causes were directly related to age, sex, and alcohol consumption, and determine the type and severity of injury. The commonest cause of soft-tissue injury was falls, whereas that of fractures was interpersonal violence. Falls accounted for most of the injuries in children and the elderly, whereas interpersonal violence was mainly responsible for those occurring in patients aged 15 to 50 years. Interpersonal violence mostly involved young male adults: fights occurring mainly between strangers who had consumed excessive amounts of alcohol. Women were usually assaulted by assailants known to them, their partners. Pedestrians showed a propensity to sustain cranial fractures, whereas motor vehicle occupants tended to sustain midfacial fractures and bicyclists mandibular fractures. Pedestrians incurred the severest injuries of all road users, and a significant proportion of road user collisions involved bicyclists. Sports were responsible for a significant proportion of craniofacial injuries in youths and young adults. Craniofacial soft-tissue injuries overall occurred most frequently on the forehead, nose, lips, and chin, and a method for their classification is proposed. The commonest craniofacial fracture was that of the nasal bones (45%), followed by cranial bones (24%), mandible (13%), zygoma (13%), orbital blow-out (3%), and maxilla (2%). The incidence of craniofacial trauma can be greatly reduced by improvements in interior home design, school education in

  16. Craniofacial and Dental Development in Costello Syndrome

    PubMed Central

    Goodwin, Alice F.; Oberoi, Snehlata; Landan, Maya; Charles, Cyril; Massie, Jessica C.; Fairley, Cecilia; Rauen, Katherine A.; Klein, Ophir D.

    2014-01-01

    Costello syndrome (CS) is a RASopathy characterized by a wide range of cardiac, musculoskeletal, dermatological, and developmental abnormalities. The RASopathies are defined as a group of syndromes caused by activated Ras/mitogen-activated protein kinase (MAPK) signaling. Specifically, CS is caused by activating mutations in HRAS. Although receptor tyrosine kinase (RTK) signaling, which is upstream of Ras/MAPK, is known to play a critical role in craniofacial and dental development, the craniofacial and dental features of CS have not been systematically defined in a large group of individuals. In order to address this gap in our understanding and fully characterize the CS phenotype, we evaluated the craniofacial and dental phenotype in a large cohort (n=41) of CS individuals. We confirmed that the craniofacial features common in CS include macrocephaly, bitemporal narrowing, convex facial profile, full cheeks, and large mouth. Additionally, CS patients have a characteristic dental phenotype that includes malocclusion with anterior open bite and posterior crossbite, enamel hypo-mineralization, delayed tooth development and eruption, gingival hyperplasia, thickening of the alveolar ridge, and high palate. Comparison of the craniofacial and dental phenotype in CS with other RASopathies, such as cardio-facio-cutaneous syndrome (CFC), provides insight into the complexities of Ras/MAPK signaling in human craniofacial and dental development. PMID:24668879

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

    PubMed

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

    2015-04-15

    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 Tgfbr2(fl/fl);Wnt1-Cre mice). A haploinsufficiency of Tgfbr1 (aka Alk5) (Tgfbr2(fl/fl);Wnt1-Cre;Alk5(fl/+)) 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, Tgfbr2(fl/fl);Wnt1-Cre, and Tgfbr2(fl/fl);Wnt1-Cre;Alk5(fl/+)mice. By analyzing three dimensional (3D) micro-computed tomography (microCT) images, we found that different craniofacial bones were restored to different degrees in Tgfbr2(fl/fl);Wnt1-Cre;Alk5(fl/+) 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.

  18. Skeletal elements within teleost eyes and a discussion of their homology.

    PubMed

    Franz-Odendaal, Tamara A; Hall, Brian K

    2006-11-01

    Scleral ossicles and scleral cartilages form part of the craniofacial skeleton of many vertebrates. Some vertebrates, including all birds and most reptiles, but excluding most mammals, have scleral cartilages as well as scleral ossicles supporting their eyes. The teleost equivalent of these elements has received little attention in the literature. From radiographic and whole-mount analyses of over 400 individuals from 376 teleost species, we conclude that the teleost scleral skeletal elements (ossicles and cartilage) differ significantly from those of reptiles (including birds). Scleral ossicles in teleosts have different developmental origins, different positions within the eyeball, and different relationships with the scleral cartilaginous element than those in reptiles. From whole-mount staining of a growth series of four species of teleost (Danio rerio, Salmo salar, Esox lucius, and Alosa pseudoharengus), we interpret the development of these elements and show that they arise from within an Alcian blue-staining cartilaginous ring that develops around the eye earlier in development. We present possible scenarios on the evolution of these scleral skeletal elements from a common gnathostome ancestor, and consider that teleost scleral skeletal elements may not be homologous to those in reptiles. Our study indicates that homology cannot be assumed for these elements, despite the fact that they share the same name, scleral ossicles. PMID:17051547

  19. [The craniofacial architecture of class III malocclusion using the Coben analysis].

    PubMed

    Vallée-Cussac, V

    1991-01-01

    In this study, longitudinal tracings of dental and skeletal Class III malocclusion group are compared to tracings of COBEN analysis standard values. Cephalometric measurements and surimpositions illustrate the dynamic variations of Class III cranio-facial architecture for two age ranges: 8 years +/- 1 year and 16 years +/- 1 year. The Class III pathology for children 8 years +/- 1 year aged is characterized by alterations of tracings sizes and position with excessive cranio-facial components length and rotation of cranial base into a more vertical position. A growth rate deficiency in length with a variable individual adaptation is showed for cranial structures except the mandibule after growth at the age of 16 years +/- 1 year.

  20. 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.

  1. Fuz Regulates Craniofacial Development through Tissue Specific Responses to Signaling Factors

    PubMed Central

    Zhang, Zichao; Wlodarczyk, Bogdan J.; Niederreither, Karen; Venugopalan, Shankar; Florez, Sergio; Finnell, Richard H.; Amendt, Brad A.

    2011-01-01

    The planar cell polarity effector gene Fuz regulates ciliogenesis and Fuz loss of function studies reveal an array of embryonic phenotypes. However, cilia defects can affect many signaling pathways and, in humans, cilia defects underlie several craniofacial anomalies. To address this, we analyzed the craniofacial phenotype and signaling responses of the Fuz−/− mice. We demonstrate a unique role for Fuz in regulating both Hedgehog (Hh) and Wnt/β-catenin signaling during craniofacial development. Fuz expression first appears in the dorsal tissues and later in ventral tissues and craniofacial regions during embryonic development coincident with cilia development. The Fuz−/− mice exhibit severe craniofacial deformities including anophthalmia, agenesis of the tongue and incisors, a hypoplastic mandible, cleft palate, ossification/skeletal defects and hyperplastic malformed Meckel's cartilage. Hh signaling is down-regulated in the Fuz null mice, while canonical Wnt signaling is up-regulated revealing the antagonistic relationship of these two pathways. Meckel's cartilage is expanded in the Fuz−/− mice due to increased cell proliferation associated with the up-regulation of Wnt canonical target genes and decreased non-canonical pathway genes. Interestingly, cilia development was decreased in the mandible mesenchyme of Fuz null mice, suggesting that cilia may antagonize Wnt signaling in this tissue. Furthermore, expression of Fuz decreased expression of Wnt pathway genes as well as a Wnt-dependent reporter. Finally, chromatin IP experiments demonstrate that β-catenin/TCF-binding directly regulates Fuz expression. These data demonstrate a new model for coordination of Hh and Wnt signaling and reveal a Fuz-dependent negative feedback loop controlling Wnt/β-catenin signaling. PMID:21935430

  2. The 50 Most Cited Papers in Craniofacial Anomalies and Craniofacial Surgery

    PubMed Central

    Joyce, Cormac W; Thomas, Sangeetha; Concannon, Elizabeth; Murray, Dylan

    2015-01-01

    Background Citation analysis is a recognized scientometric method of classifying cited articles according to the frequency of which they have been referenced. The total number of citations an article receives is considered to reflect it's significance among it's peers. Methods Until now, a bibliometric analysis has never been performed in the specialty of craniofacial anomalies and craniofacial surgery. This citation analysis generates an extensive list of the 50 most influential papers in this developing field. Journals specializing in craniofacial surgery, maxillofacial surgery, plastic surgery, neurosurgery, genetics and pediatrics were searched to demonstrate which articles have cultivated the specialty within the past 55 years. Results The results show an intriguing compilation of papers which outline the fundamental knowledge of craniofacial anomalies and the developments of surgical techniques to manage these patients. Conclusions This citation analysis provides a summation of the current most popular trends in craniofacial literature. These esteemed papers aid to direct our decision making today within this specialty. PMID:26430626

  3. 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

  4. Unfavourable results in craniofacial surgery

    PubMed Central

    Sharma, Ramesh Kumar

    2013-01-01

    Craniofacial surgery is one of the newer subspecialties of plastic surgery and owes its birth to the pioneering work of Paul Tessier in the late sixties. Since then this challenging specialty work has been taken up by many centres around the word including India. Initial reports in late eighties and early nineties showed morbidity and mortality ranging from 1.6% to 4.3%. However over past few decades, with improved instrumentations, safer anaesthesia and cumulative experience of surgeons the morbidity and mortality has been brought down to as low as 0.1% in many centres in USA. In our centre at Post-graduate Institute, Chandigarh, the mortality rate is about 0.8% (4 out of 480 cases). The learning curve in this surgery is rather steep but with experience and a well-coordinated team work, results in this complex subspecialty can be improved. The infection is a major cause for worry but can be easily prevented by sound surgical principles and placing a vascularised tissue barrier between the extradural space and the nasopharynx/sinus mucosa. PMID:24501456

  5. 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.

  6. Craniofacial morphology and otitis media with effusion in children.

    PubMed

    Di Francesco, Renata; Paulucci, Bruno; Nery, Claudio; Bento, Ricardo Ferreira

    2008-08-01

    Otitis media with effusion (OME) affects 28-38% of pre-school children, and it occurs due to the dysfunction of the auditory tube. Anatomical development of the auditory tube depends on the craniofacial growth and development. Deviations of normal craniofacial morphology and growth using cephalometric studies, may predict the evolution of otitis. Our goal in this paper is to determine if there are differences in craniofacial morphology between children with adenoid enlargement, with and without otitis media with effusion. This is a prospective study in which the sample consisted of 67 children (male and female) from 5 to 10 years old. All patients presented chronic upper airway obstruction due to tonsil and adenoid enlargement (>80% degree of obstruction). Thirty-three patients presented otitis media with effusion, for more than 3 months and 34 did not. The latter composed the control group. Standardized lateral head radiographs were obtained for all subjects. Radiographs were taken with patient positioned by a cephalostat and stayed with mandibles in centric occlusion and lips at rest. Radiographs were digitalized and specific landmarks were identified using a computer program Radiocef 2003, 5th edition. Measurements, angles and lines were taken of the basicranium, maxilla and mandible according to the modified Ricketts analysis. In addition, facial height and facial axis were determined. Children with otitis media with effusion present differences in the morphology of the face, regarding these measures: N-S (anterior cranial base length), N-ANS (upper facial height), ANS-PNS (size of the hard palate), Po-Or.N-Pog (facial depth), Ba-N.Ptm-Gn (facial axis), Go-Me (mandibular length) and Vaia--Vaip (inferior pharyngeal airway).

  7. 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

  8. 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

  9. 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

  10. 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

  11. Realities of craniofacial growth modification.

    PubMed

    Kluemper, G T; Spalding, P M

    2001-03-01

    Facial growth modification can be an effective method of resolving skeletal discrepancies. There still is much controversy regarding our understanding of the nature and extent of skeletal orthopedic change possible in individual patients and the most effective appliances and timing of such treatment. In the treatment of class II patients, growth modification can lead to an improvement, if not complete correction of the class II malocclusion. Although two-phase treatment with an early first prepubertal phase can be effective, a later single-phase approach during early puberty seems to be equally effective. Certainly, before surgical correction of the mild to moderate skeletal class II problem in a growing patient is considered, an orthopedic phase of treatment prior to the pubertal growth spurt is an appropriate first step. Skeletal class III patients with a maxillary deficiency stand to gain significant benefits from early orthopedic treatment. However, such therapy may produce more favorable changes for older children and adolescents than previously thought. Nevertheless, orthopedic correction of the mild to moderate skeletal class III should be accompanied by regular progress evaluations to avoid creating significant dental compensations in the face with little skeletal change that ultimately requires surgery anyway. Skeletal class III patients with mandibular excess and/or vertical excess are poor candidates for growth modification. Orthopedic palatal expansion appears to be effective and stable at any time prior to late puberty, a stage of development when ossification of the maxillary sutures is more advanced. Consequently, the timing for expansion may be better determined by the specific needs of each patient. A functional shift resulting from a crossbite is optimally corrected early, so that asymmetric growth of the mandible can be reduced or even prevented. Postpubertal orthopedic expansion is likely to result in bone bending, which will reverse itself over

  12. Effects of tongue volume reduction on craniofacial growth: A longitudinal study on orofacial skeletons and dental arches.

    PubMed

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

    2008-10-01

    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

  13. 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. PMID:26896175

  14. 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.

  15. 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.

  16. 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

  17. A Case of Craniofacial Polyostotic Fibrous Dysplasia

    PubMed Central

    Clark, Justin; Carson, William

    2010-01-01

    We present the case of a patient with craniofacial polyostotic fibrous dysplasia. Polyostotic fibrous dysplasia is relatively rare and usually presents in late childhood/early adulthood. It is occasionally associated with endocrine disorders such as McCune-Albright syndrome. The benign pathology of this bone tumor belies its implications in the region of the skull base. Craniofacial polyostotic fibrous dysplasia can have devastating complications depending on which ostia are involved, including vision loss. Our patient was already beginning to experience visual field deficits from ischemic neuropathy. He was treated surgically with optic nerve decompression; however, the efficacy of this approach is currently being debated. PMID:22470752

  18. 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

  19. 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. PMID:24240765

  20. The differentiation and morphogenesis of craniofacial muscles.

    PubMed

    Noden, Drew M; Francis-West, Philippa

    2006-05-01

    Unraveling the complex tissue interactions necessary to generate the structural and functional diversity present among craniofacial muscles is challenging. These muscles initiate their development within a mesenchymal population bounded by the brain, pharyngeal endoderm, surface ectoderm, and neural crest cells. This set of spatial relations, and in particular the segmental properties of these adjacent tissues, are unique to the head. Additionally, the lack of early epithelialization in head mesoderm necessitates strategies for generating discrete myogenic foci that may differ from those operating in the trunk. Molecular data indeed indicate dissimilar methods of regulation, yet transplantation studies suggest that some head and trunk myogenic populations are interchangeable. The first goal of this review is to present key features of these diversities, identifying and comparing tissue and molecular interactions regulating myogenesis in the head and trunk. Our second focus is on the diverse morphogenetic movements exhibited by craniofacial muscles. Precursors of tongue muscles partly mimic migrations of appendicular myoblasts, whereas myoblasts destined to form extraocular muscles condense within paraxial mesoderm, then as large cohorts they cross the mesoderm:neural crest interface en route to periocular regions. Branchial muscle precursors exhibit yet another strategy, establishing contacts with neural crest populations before branchial arch formation and maintaining these relations through subsequent stages of morphogenesis. With many of the prerequisite stepping-stones in our knowledge of craniofacial myogenesis now in place, discovering the cellular and molecular interactions necessary to initiate and sustain the differentiation and morphogenesis of these neglected craniofacial muscles is now an attainable goal.

  1. 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…

  2. 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...

  3. Mouse Models of Rare Craniofacial Disorders.

    PubMed

    Achilleos, Annita; Trainor, Paul A

    2015-01-01

    A rare disease is defined as a condition that affects less than 1 in 2000 individuals. Currently more than 7000 rare diseases have been documented, and most are thought to be of genetic origin. Rare diseases primarily affect children, and congenital craniofacial syndromes and disorders constitute a significant proportion of rare diseases, with over 700 having been described to date. Modeling craniofacial disorders in animal models has been instrumental in uncovering the etiology and pathogenesis of numerous conditions and in some cases has even led to potential therapeutic avenues for their prevention. In this chapter, we focus primarily on two general classes of rare disorders, ribosomopathies and ciliopathies, and the surprising finding that the disruption of fundamental, global processes can result in tissue-specific craniofacial defects. In addition, we discuss recent advances in understanding the pathogenesis of an extremely rare and specific craniofacial condition known as syngnathia, based on the first mouse models for this condition. Approximately 1% of all babies are born with a minor or major developmental anomaly, and individuals suffering from rare diseases deserve the same quality of treatment and care and attention to their disease as other patients. PMID:26589934

  4. 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.

  5. 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. PMID:3969404

  6. 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. PMID:24097854

  7. 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

  8. Noncanonical Wnt-4 signaling enhances bone regeneration of mesenchymal stem cells in craniofacial defects through activation of p38 MAPK.

    PubMed

    Chang, Jia; Sonoyama, Wataru; Wang, Zhuo; Jin, Qiming; Zhang, Chengfei; Krebsbach, Paul H; Giannobile, William; Shi, Songtao; Wang, Cun-Yu

    2007-10-19

    Mesenchymal stem cells (MSCs) are multipotent cells that can be differentiated into osteoblasts and provide an excellent cell source for bone regeneration and repair. Recently, the canonical Wnt/beta-catenin signaling pathway has been found to play a critical role in skeletal development and osteogenesis, implying that Wnts can be utilized to improve de novo bone formation mediated by MSCs. However, it is unknown whether noncanonical Wnt signaling regulates osteogenic differentiation. Here, we find that Wnt-4 enhanced in vitro osteogenic differentiation of MSCs isolated from human adult craniofacial tissues and promoted bone formation in vivo. Whereas Wnt-4 did not stabilize beta-catenin, it activated p38 MAPK in a novel noncanonical signaling pathway. The activation of p38 was dependent on Axin and was required for the enhancement of MSC differentiation by Wnt-4. Moreover, using two different models of craniofacial bone injury, we found that MSCs genetically engineered to express Wnt-4 enhanced osteogenesis and improved the repair of craniofacial defects in vivo. Taken together, our results reveal that noncanonical Wnt signaling could also play a role in osteogenic differentiation. Wnt-4 may have a potential use in improving bone regeneration and repair of craniofacial defects.

  9. A zebrafish screen for craniofacial mutants identifies wdr68 as a highly conserved gene required for endothelin-1 expression

    PubMed Central

    Nissen, Robert M; Amsterdam, Adam; Hopkins, Nancy

    2006-01-01

    Background Craniofacial birth defects result from defects in cranial neural crest (NC) patterning and morphogenesis. The vertebrate craniofacial skeleton is derived from cranial NC cells and the patterning of these cells occurs within the pharyngeal arches. Substantial efforts have led to the identification of several genes required for craniofacial skeletal development such as the endothelin-1 (edn1) signaling pathway that is required for lower jaw formation. However, many essential genes required for craniofacial development remain to be identified. Results Through screening a collection of insertional zebrafish mutants containing approximately 25% of the genes essential for embryonic development, we present the identification of 15 essential genes that are required for craniofacial development. We identified 3 genes required for hyomandibular development. We also identified zebrafish models for Campomelic Dysplasia and Ehlers-Danlos syndrome. To further demonstrate the utility of this method, we include a characterization of the wdr68 gene. We show that wdr68 acts upstream of the edn1 pathway and is also required for formation of the upper jaw equivalent, the palatoquadrate. We also present evidence that the level of wdr68 activity required for edn1 pathway function differs between the 1st and 2nd arches. Wdr68 interacts with two minibrain-related kinases, Dyrk1a and Dyrk1b, required for embryonic growth and myotube differentiation, respectively. We show that a GFP-Wdr68 fusion protein localizes to the nucleus with Dyrk1a in contrast to an engineered loss of function mutation Wdr68-T284F that no longer accumulated in the cell nucleus and failed to rescue wdr68 mutant animals. Wdr68 homologs appear to exist in all eukaryotic genomes. Notably, we found that the Drosophila wdr68 homolog CG14614 could substitute for the vertebrate wdr68 gene even though insects lack the NC cell lineage. Conclusion This work represents a systematic identification of approximately 25

  10. 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

  11. 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.

  12. Future and training of craniofacial surgery in India.

    PubMed

    Khanna, Vaibhav; Upadhyaya, Divya Narain

    2014-09-01

    Craniofacial surgery, in the strictest sense, is the surgery of structures above and behind the maxilla. Craniofacial surgery is not new to India and has been around for more than 4 decades now since the 1970s. Keeping in mind the promotion of the specialty in India, an Indian Craniofacial Foundation was launched in the year 2012 at the Annual Meeting of the Association of Plastic Surgeons of India. To develop a craniofacial center in India, the primary requirement is a source of funding. Several craniofacial centers, which are already running successfully in India, have amply demonstrated that this can be done in several ways. We would like to discuss here the 2 models of craniofacial service delivery and training that the authors have seen and experienced firsthand.

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  12. Imaging findings in craniofacial childhood rhabdomyosarcoma

    PubMed Central

    Merks, Johannes H. M.; Saeed, Peerooz; Balm, Alfons J. M.; Bras, Johannes; Pieters, Bradley R.; Adam, Judit A.; van Rijn, Rick R.

    2010-01-01

    Rhabdomyosarcoma (RMS) is the commonest paediatric soft-tissue sarcoma constituting 3–5% of all malignancies in childhood. RMS has a predilection for the head and neck area and tumours in this location account for 40% of all childhood RMS cases. In this review we address the clinical and imaging presentations of craniofacial RMS, discuss the most appropriate imaging techniques, present characteristic imaging features and offer an overview of differential diagnostic considerations. Post-treatment changes will be briefly addressed. PMID:20725831

  13. Developmental craniofacial anthropometry: Assessment of Race effects

    PubMed Central

    Durtschi, Reid B.; Chung, Dongjun; Gentry, Lindell R.; Chung, Moo K.; Vorperian, Houri K.

    2010-01-01

    Differences in craniofacial anatomy among racial groups have been documented in a variety of structures but the oral and maxillofacial regions have been shown to be a particularly defining region of variability between different racial/ethnic groups. Such comparisons are informative, but they neither address developmental changes of the craniofacial anatomy, nor do they assess or take into account the natural variability within individual races that may account for similar reported, across-group variations. The purpose of this report was to compare – using medical imaging studies – the growth trend of select race sensitive craniofacial variables in the oral and pharyngeal regions when all races: White, Asian, Black, and Hispanic (AR) are included versus only a single race category: White (WR). Race effect was tested by comparing sex specific growth fits (4th degree polynomial model) for AR versus WR data. Findings indicate that the inclusion of all races versus a single race did not significantly alter the growth model fits. Thus, the inclusion of all races permits the advancement of general growth models; however, methodologically it is best to treat the race variable as a covariate in all future analysis to test for both potential all race effects or individual race effects, on general growth models. PMID:19753647

  14. Neuroembryology and functional anatomy of craniofacial clefts

    PubMed Central

    Ewings, Ember L.; Carstens, Michael H.

    2009-01-01

    The master plan of all vertebrate embryos is based on neuroanatomy. The embryo can be anatomically divided into discrete units called neuromeres so that each carries unique genetic traits. Embryonic neural crest cells arising from each neuromere induce development of nerves and concomitant arteries and support the development of specific craniofacial tissues or developmental fields. Fields are assembled upon each other in a programmed spatiotemporal order. Abnormalities in one field can affect the shape and position of developing adjacent fields. Craniofacial clefts represent states of excess or deficiency within and between specific developmental fields. The neuromeric organization of the embryo is the common denominator for understanding normal anatomy and pathology of the head and neck. Tessier's observational cleft classification system can be redefined using neuroanatomic embryology. Reassessment of Tessier's empiric observations demonstrates a more rational rearrangement of cleft zones, particularly near the midline. Neuromeric theory is also a means to understand and define other common craniofacial problems. Cleft palate, encephaloceles, craniosynostosis and cranial base defects may be analyzed in the same way. PMID:19884675

  15. Craniofacial fibrous dysplasia: Surgery and literature review

    PubMed Central

    Menon, Suresh; Venkatswamy, Srihari; Ramu, Veena; Banu, Khurshida; Ehtaih, Sham; Kashyap, Vinay M.

    2013-01-01

    Objective: To highlight the clinical and radiologic features and management of craniofacial fibrous dysplasia with review of literature. Materials and Methods: A retrospective review of 6 patients who underwent surgical treatment in a tertiary healthcare centre was done using the parameters of patients' details, clinical features, radiological findings, management and postoperative review. Results: Of the six patients, 3 females and 2 males were in the 2nd decade of life and 1 male in the 1st decade of life. The disease was restricted to maxilla in 3 patients, involved the temporal and frontal bones in addition to maxilla in one, involved the frontal bone in one patient and involved frontal and parietal bones in one patient. The primary reason for seeking treatment in all the 6 cases was facial deformity. There was absence of pain in all 6 cases. For surgical treatment in all three cases involving the maxilla, the approach was intraoral while bicoronal approach was used for the other three cases. Treatment consisted of surgical contouring and reshaping the area. All cases were followed up over a period of 2 years with no signs of recurrence. Conclusion: Treatment of craniofacial fibro-osseous lesions is highly individualized. Most cases of craniofacial fibrous dysplasia manifest as swellings that cause facial deformity and surgical recontouring after cessation of growth seems to provide the best results. PMID:23662263

  16. 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

  17. [Preoperative diagnosis of complex craniofacial syndromes].

    PubMed

    Haers, P E; Warnke, T; Carls, F R; Zollikofer, C P; Stucki, P; Locher, M C; Sailer, H F

    1998-05-01

    The aim of this study was to evaluate stereolithography as a tool in craniofacial surgery. The indications were classified according to the usefulness of stereolithography for different craniofacial pathologies. Stereolithography models of 21 patients were built; in three cases two models were made. The age of the 7 male and 14 female patients was 17 years on average (range: 15 months-44 years). First a helical volume CT scan of the anatomical region was performed. After transformation of the data set, the models were built by an SLA 250 stereolithography apparatus (3D-Systems, Valencia, Calif., USA), steered by FORM-IT/DCS-Software (University of Zurich, Switzerland). The stereolithography models were constructed by superposition of epoxy resin slices of 0.05 mm thickness, which were polymerized by a helium-cadmium laser. These models were classified according to the indication for stereolithography, the operation performed, the relevance for surgical planning and the usefulness for the fabrication of implants and protheses. In craniofacial syndromes, severe asymmetries of the viscerocranium, large skull defects and before surgical correction of hypertelorism these models provided important additional information for the surgeon. Before complex interventions in these fields the construction of a stereolithography model should be considered. In multiple fractures consolidated in dislocation, the models proved to be less useful.

  18. Craniofacial and Dental Findings in Cystinosis

    PubMed Central

    Bassim, CW; Gautam, P; Domingo, DL; Balog, JZ; Guadagnini, JP; Gahl, WA; Hart, TC

    2009-01-01

    Objectives Cystinosis is a rare autosomal recessive lysosomal storage disorder with developmental and mineralization anomalies as part of its clinical presentation. The objective of this study was to provide the first systematic assessment of the craniofacial and dental characteristics associated with cystinosis. Study Design Oral and radiographic evaluations were performed on 73 patients with cystinosis. Analyses of cephalometry (n=20), taurodontism (n=47), caries (n=47), enamel defects (n=48), soft tissue anomalies (n=48), and dental age (n=41) were performed on the cystinosis group, and compared with age- and sex- comparable controls or standards. Results Cystinosis patients manifested relative mandibular deficiency, an increased facial height, and a reduced airway space. Taurodontism and enamel defects were significantly more prevalent in cystinosis patients compared with controls (p<0.0001 and p=0.027, respectively). Children (aged < 15 years) with cystinosis also demonstrated a significant delay, of almost 9 months, of their dental development (p<0.001). Conclusion Novel craniofacial and dental features are associated with cystinosis. Craniofacial deficiencies may influence the swallowing and respiratory complications seen in cystinosis. Renal pathology and associated mineral imbalance may explain the dental root and enamel anomalies found in cystinosis patients; the developmental delays in cystinosis include delayed dental formation. PMID:20233313

  19. 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

  20. 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

  1. [Mechanisms of growth, development and disease of the craniofacial skeleton].

    PubMed

    Yamashiro, Takashi

    2016-01-01

    Craniofacial skeleton is derived from several pieces of bone, which hold the brain and house the sensory organ of vision, hearing, taste and smell. It also serves as an entrance of the digestive and respiratory tracts. Hence, craniofacial complex develops under sophisticated balance between the shape and the function. Disruption of such balance leads to various types of malformation and/or deformation of the face. This review focuses on the molecular aspects of growth and developments of the craniofacial structures and also on the genetic basis of congenital craniofacial malformations.

  2. Predictors of mental health in adults with congenital craniofacial conditions attending the Australian craniofacial unit.

    PubMed

    Roberts, R M; Mathias, J L

    2013-07-01

    Objective : Adults with craniofacial conditions experience more psychosocial problems than adults in the general population, but little is known about the factors that render a person more or less susceptible to these problems. Guided by research on adults with other conditions that affect appearance, this study examined predictors of psychosocial outcome in adults with craniofacial conditions. Design : Single-sample cross-sectional design. Setting : The Australian Craniofacial Unit, Women's and Children's Hospital, Adelaide, one of the main craniofacial treatment centers in Australia. Participants : Adults (N  =  93; 36.9% of the potential sample) with congenital craniofacial conditions (excluding cleft lip and/or cleft palate) who were treated in the Australian Craniofacial Unit. Main Outcome Measures : All participants completed measures assessing anxiety, depression, and quality of life (Hospital Anxiety and Depression Scale, Short-Form Health Survey) and variables predicted to affect these outcomes (SF-36 Health Survey - Multidimensional Scale of Perceived Social Support, Rosenberg Self-Esteem Scale, Cleft Satisfaction Profile, Brief Fear of Negative Evaluation Scale, Derriford Appearance Scale). Results : Multiple regression analyses revealed that anxiety was predicted by social support, self-esteem, and fear of negative evaluation, while depression was predicted by self-esteem and social support. Physical quality of life was not predicted by any of the measures. Satisfaction with appearance, gender, age, and education were not related to outcome. Conclusions : Interventions designed to increase perceived social support and self-esteem and reduce fear of negative evaluation appear to be indicated and may assist in establishing a causal relationship between these variables. PMID:22324967

  3. 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

  4. 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...

  5. Complex craniofacial changes in blind cave-dwelling fish are mediated by genetically symmetric and asymmetric loci.

    PubMed

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

    2014-04-01

    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

  6. 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

  7. 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

  8. Facing up to the challenges of advancing Craniofacial Research.

    PubMed

    Trainor, Paul A; Richtsmeier, Joan T

    2015-07-01

    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.

  9. Craniofacial dysmorphology: Studies in honor of Samuel Pruzansky

    SciTech Connect

    Cohen, M.M.; Rollnick, B.R.

    1985-01-01

    This book contains 31 chapters. Some of the chapter titles are: Regional Specification of Cell-Specific Gene Expression During Craniofacial Development; Timing Cleft Palate Closure - Age Should Not Be the Sole Determinant; Excess of Parental Non-Righthandedness in Children with Right-Sided Cleft Lip: A Preliminary Report; and The Application of Roentgencephalometry to the Study of Craniofacial Anomalies.

  10. 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.

  11. 76 FR 30373 - National Institute of Dental & Craniofacial Research; Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-05-25

    ... HUMAN SERVICES National Institutes of Health National Institute of Dental & Craniofacial Research... unwarranted invasion of personal privacy. Name of Committee: National Institute of Dental and Craniofacial...: Marilyn Moore-Hoon, PhD, Scientific Review Officer, Scientific Review Branch, National Institute of...

  12. Development of Volunteer International Craniofacial Surgery Missions: The Komedyplast Protocol.

    PubMed

    Taub, Peter James; Lin, Alexander Y; Cladis, Franklyn P; Baker, Stephen B; Gooden, Cheryl K; Kumar, Anand; Losee, Joseph E; Menard, Robert; Starks, Red; Duncan, John A; De Pawlikowski, Wieslawa; Cecchi, Andres Wiegering; Weinzweig, Jeffrey

    2015-06-01

    Volunteer surgical missions to provide cleft care to patients in developing countries has been done successfully for a number of years. Similar missions that provide craniofacial surgery introduce a dramatic step up in complexity. While articles have addressed protocols for the safe delivery of cleft care around the world, little has been written on volunteer craniofacial surgical missions. Komedyplast was established in March 2001 as a 501c(3) nonprofit organization to provide craniofacial surgical care to underserved populations and educate local surgeons in craniofacial principles. During 9 annual missions, the organization has provided surgical care to more than 150 patients with various complex, congenital, craniofacial conditions. The article addresses important safeguards that have been implemented to maximize safety and minimize risk.

  13. 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

  14. 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

  15. The heterogeneity of craniofacial morphology in Prader-Willi patients.

    PubMed

    Belengeanu, D; Bratu, Cristina; Stoian, Monica; Motoc, A; Ormerod, Eli; Podariu, Angela Codruţa; Farcaş, Simona; Andreescu, Nicoleta

    2012-01-01

    Prader-Willi syndrome is a complex genetic disorder with narrow spectrum of facial phenotypic signs, which make the clinical diagnosis difficult in some cases. There are several reports describing the craniofacial appearance of Prader-Willi patients, but there are only a few cephalometric studies for these patients. In this study were included 18 patients with Prader-Willi syndrome and a control group of 18 subjects of both sexes selected based on specific criteria. The cephalometric radiographs of the patients were taken using the standardized technique with centric teeth in occlusion and lips in relaxed position. Angular, horizontal and linear measurements were analyzed for the study group and for the control group. We established that in Prader-Willi patients, there is a decrease of the majority of parameters but the degree of this reduction varies widely between patients and clinically typical facies not always have smaller measurements which can be found in an unusual facies. Facial dysmorphism in Prader-Willi patients varies a group ranging from miss proportions that do not alter the facial architecture as regard of facial typology, skeletal class and pattern of development to a severe disturbance of those. There is a degree of clinical heterogeneity between subjects with Prader-Willi syndrome on clinical evaluation and cephalometric study confirms the heterogeneity for this patients. Because the identification of smaller dimensions for majority of parameters in children and adults, the possibility of developmental delay or growth retardation delay can be excluded. These findings are important for the orthodontist for optimum timing of orthodontic management of patients with Prader-Willi syndrome. PMID:22990543

  16. Fat-Dachsous Signaling Coordinates Cartilage Differentiation and Polarity during Craniofacial Development

    PubMed Central

    Le Pabic, Pierre; Ng, Carrie; Schilling, Thomas F.

    2014-01-01

    Organogenesis requires coordinated regulation of cellular differentiation and morphogenesis. Cartilage cells in the vertebrate skeleton form polarized stacks, which drive the elongation and shaping of skeletal primordia. Here we show that an atypical cadherin, Fat3, and its partner Dachsous-2 (Dchs2), control polarized cell-cell intercalation of cartilage precursors during craniofacial development. In zebrafish embryos deficient in Fat3 or Dchs2, chondrocytes fail to stack and misregulate expression of sox9a. Similar morphogenetic defects occur in rerea/atr2a −/− mutants, and Fat3 binds REREa, consistent with a model in which Fat3, Dchs2 and REREa interact to control polarized cell-cell intercalation and simultaneously control differentiation through Sox9. Chimaeric analyses support such a model, and reveal long-range influences of all three factors, consistent with the activation of a secondary signal that regulates polarized cell-cell intercalation. This coordinates the spatial and temporal morphogenesis of chondrocytes to shape skeletal primordia and defects in these processes underlie human skeletal malformations. Similar links between cell polarity and differentiation mechanisms are also likely to control organ formation in other contexts. PMID:25340762

  17. MEPE Localization in the Craniofacial Complex and Function in Tooth Dentin Formation.

    PubMed

    Gullard, Angela; Gluhak-Heinrich, Jelica; Papagerakis, Silvana; Sohn, Philip; Unterbrink, Aaron; Chen, Shuo; MacDougall, Mary

    2016-04-01

    Matrix extracellular phosphoglycoprotein (MEPE) is an extracellular matrix protein found in dental and skeletal tissues. Although information regarding the role of MEPE in bone and disorders of phosphate metabolism is emerging, the role of MEPE in dental tissues remains unclear. We performed RNA in situ hybridization and immunohistochemistry analyses to delineate the expression pattern of MEPE during embryonic and postnatal development in craniofacial mineralizing tissues. Mepe RNA expression was seen within teeth from cap through root formation in association with odontoblasts and cellular cementoblasts. More intense expression was seen in the alveolar bone within the osteoblasts and osteocytes. MEPE immunohistochemistry showed biphasic dentin staining in incisors and more intense staining in alveolar bone matrix and in forming cartilage. Analysis of Mepe null mouse molars showed overall mineralized tooth volume and density of enamel and dentin comparable with that of wild-type samples. However, Mepe(-/-) molars exhibited increased thickness of predentin, dentin, and enamel over controls and decreased gene expression of Enam, Bsp, Dmp1, Dspp, and Opnby RT-PCR. In vitro Mepe overexpression in odontoblasts led to significant reductions in Dspp reporter activity. These data suggest MEPE may be instrumental in craniofacial and dental matrix maturation, potentially functioning in the maintenance of non-mineralized matrix.

  18. Craniofacial and Dental Defects in the Col1a1Jrt/+ Mouse Model of Osteogenesis Imperfecta.

    PubMed

    Eimar, H; Tamimi, F; Retrouvey, J-M; Rauch, F; Aubin, J E; McKee, M D

    2016-07-01

    Certain mutations in the COL1A1 and COL1A2 genes produce clinical symptoms of both osteogenesis imperfecta (OI) and Ehlers-Danlos syndrome (EDS) that include abnormal craniofacial growth, dental malocclusion, and dentinogenesis imperfecta. A mouse model (Col1a1(Jrt)/+) was recently developed that had a skeletal phenotype and other features consistent with moderate-to-severe OI and also with EDS. The craniofacial phenotype of 4- and 20-wk-old Col1a1(Jrt)/+ mice and wild-type littermates was assessed by micro-computed tomography (µCT) and morphometry. Teeth and the periodontal ligament compartment were analyzed by µCT, light microscopy/histomorphometry, and electron microscopy. Over time, at 20 wk, Col1a1(Jrt)/+ mice developed smaller heads, a shortened anterior cranial base, class III occlusion, and a mandibular side shift with shorter morphology in the masticatory region (maxilla and mandible). Col1a1(Jrt)/+ mice also had changes in the periodontal compartment and abnormalities in the dentin matrix and mineralization. These findings validate Col1a1(Jrt)/+ mice as a model for OI and EDS in humans. PMID:26951553

  19. A novel anthropometric chart for craniofacial surgery.

    PubMed

    Christofides, Efthimios Andreas; Steinmann, Mark Eugene

    2010-03-01

    Various indices and measurements of the growing cranial vault exist, but there is no single head-shape chart specific to craniofacial surgery. The authors have produced a reliable head-shape chart that will enable accurate charting of patients with craniosynostosis both in the preoperative and postoperative period.One thousand eighty-two participants were used to obtain normal anthropometric measurements, specifically the ear-to-ear measurement and the glabella-to-external occipital protuberance measurement. Both male and female participants aged 6 months to 25 years were used to obtain these measurements. These measurements were correlated with the cephalic index as described by Farkas according to the different age groups.A head-shape chart has been created for males and females using the normal ear-to-ear measurements and the cephalic index that define both qualitative and quantitative elements of the growing skull. Craniofacial surgeons may find this chart useful for managing patients with craniosynostosis. This chart is also useful in the assessment of how the skull grows after surgery.

  20. Non-surgical treatment of skeletal class III malocclusion

    PubMed Central

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

    2014-01-01

    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. PMID:24722711

  1. Structure and Sequence of the Human Fast Skeletal Troponin T (TNNT3) Gene: Insight Into the Evolution of the Gene and the Origin of the Developmentally Regulated Isoforms

    PubMed Central

    Stefancsik, Raymund; Randall, Jeffrey D.; Mao, Chengjian

    2003-01-01

    We describe the cloning, sequencing and structure of the human fast skeletal troponin T (TNNT3) gene located on chromosome 11p15.5. The single-copy gene encodes 19 exons and 18 introns. Eleven of these exons, 1–3, 9–15 and 18, are constitutively spliced, whereas exons 4–8 are alternatively spliced. The gene contains an additional subset of developmentally regulated and alternatively spliced exons, including a foetal exon located between exon 8 and 9 and exon 16 or α (adult) and 17 or β (foetal and neonatal). Exon phasing suggests that the majority of the alternatively spliced exons located at the 5′ end of the gene may have evolved as a result of exon shuffling, because they are of the same phase class. In contrast, the 3′ exons encoding an evolutionarily conserved heptad repeat domain, shared by both TnT and troponin I (TnI), may be remnants of an ancient ancestral gene. The sequence of the 5′ flanking region shows that the putative promoter contains motifs including binding sites for MyoD, MEF-2 and several transcription factors which may play a role in transcriptional regulation and tissue-specific expression of TnT. The coding region of TNNT3 exhibits strong similarity to the corresponding rat sequence. However, unlike the rat TnT gene, TNNT3 possesses two repeat regions of CCA and TC. The exclusive presence of these repetitive elements in the human gene indicates divergence in the evolutionary dynamics of mammalian TnT genes. Homologous muscle-specific splicing enhancer motifs are present in the introns upstream and downstream of the foetal exon, and may play a role in the developmental pattern of alternative splicing of the gene. The genomic correlates of TNNT3 are relevant to our understanding of the evolution and regulation of expression of the gene, as well as the structure and function of the protein isoforms. The nucleotide sequence of TNNT3 has been submitted to EMBL/GenBank under Accession No. AF026276. PMID:18629027

  2. Treatment and posttreatment craniofacial changes after rapid maxillary expansion and facemask therapy.

    PubMed

    Baccetti, T; Franchi, L; McNamara, J A

    2000-10-01

    The aim of this study was to evaluate treatment and posttreatment dentoskeletal changes in 2 groups of subjects with Class III malocclusions. Subjects were treated with a bonded acrylic-splint expander and a face mask, and the optimal timing for this treatment protocol was assessed. The treated sample (29 subjects) was divided into 2 groups according to the stage of dental development. The early treatment group consisted of 16 subjects in the early mixed dentitional (erupting permanent incisors and/or first molars), whereas the late treatment group consisted of 13 subjects in the late mixed dentition (erupting permanent canines and premolars). Cephalograms were available at 3 time periods: T(1), pretreatment, T(2), end of active treatment, and T(3), posttreatment. The mean T(1)-T(2) interval (active treatment period) and the mean T(2)-T(3) interval (posttreatment period) were approximately 1 year each in both treatment groups. None of the patients wore any skeletal retention appliance during the posttreatment period (T(2)-T(3)). Groups of subjects with untreated Class III malocclusion were used as controls at both observation intervals. A significant increase in the sagittal growth of the maxilla was seen only when treatment was performed in the early mixed dentition. A restraining effect on mandibular growth rate associated with a more upward and forward direction of condylar growth was found in both treatment groups. An increase in vertical intermaxillary relationships was observed in Class III patients treated in the late mixed dentition. Posttreatment, the Class III craniofacial growth pattern was re-established in the absence of any skeletal retention appliance. Relapse tendency affects the sagittal growth of the maxilla in the early treated subjects and the sagittal position of the mandible in the late treated subjects. Orthopedic treatment of Class III malocclusion in the early mixed dentition is able to induce more favorable craniofacial adaptations than

  3. Facial Phenotyping by Quantitative Photography Reflects Craniofacial Morphology Measured on Magnetic Resonance Imaging in Icelandic Sleep Apnea Patients

    PubMed Central

    Sutherland, Kate; Schwab, Richard J.; Maislin, Greg; Lee, Richard W.W.; Benedikstdsottir, Bryndis; Pack, Allan I.; Gislason, Thorarinn; Juliusson, Sigurdur; Cistulli, Peter A.

    2014-01-01

    Study Objectives: (1) To determine whether facial phenotype, measured by quantitative photography, relates to underlying craniofacial obstructive sleep apnea (OSA) risk factors, measured with magnetic resonance imaging (MRI); (2) To assess whether these associations are independent of body size and obesity. Design: Cross-sectional cohort. Setting: Landspitali, The National University Hospital, Iceland. Participants: One hundred forty patients (87.1% male) from the Icelandic Sleep Apnea Cohort who had both calibrated frontal and profile craniofacial photographs and upper airway MRI. Mean ± standard deviation age 56.1 ± 10.4 y, body mass index 33.5 ± 5.05 kg/m2, with on-average severe OSA (apnea-hypopnea index 45.4 ± 19.7 h-1). Interventions: N/A. Measurements and Results: Relationships between surface facial dimensions (photos) and facial bony dimensions and upper airway soft-tissue volumes (MRI) was assessed using canonical correlation analysis. Photo and MRI craniofacial datasets related in four significant canonical correlations, primarily driven by measurements of (1) maxillary-mandibular relationship (r = 0.8, P < 0.0001), (2) lower face height (r = 0.76, P < 0.0001), (3) mandibular length (r = 0.67, P < 0.0001), and (4) tongue volume (r = 0.52, P = 0.01). Correlations 1, 2, and 3 were unchanged when controlled for weight and neck and waist circumference. However, tongue volume was no longer significant, suggesting facial dimensions relate to tongue volume as a result of obesity. Conclusions: Significant associations were found between craniofacial variable sets from facial photography and MRI. This study confirms that facial photographic phenotype reflects underlying aspects of craniofacial skeletal abnormalities associated with OSA. Therefore, facial photographic phenotyping may be a useful tool to assess intermediate phenotypes for OSA, particularly in large-scale studies. Citation: Sutherland K, Schwab RJ, Maislin G, Lee RW, Benedikstdsottir B, Pack AI

  4. 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.

  5. 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.

  6. Midline craniofacial malformations with a lipomatous cephalocele are associated with insufficient closure of the neural tube in the tuft mouse

    PubMed Central

    Fong, Keith S. K.; Adachi, Dana A. T.; Chang, Shaun B.; Lozanoff, Scott

    2015-01-01

    Genetic variations affecting neural tube closure along the head result in malformations to the face and brain, posing a significant impact on health care costs and the quality of life. We have established a mouse line from a mutation that arose spontaneously in our wildtype colony that we called tuft. Tuft mice have heritable midline craniofacial defects featuring an anterior lipomatous cephalocele. Whole mount skeletal stains indicated that affected newborns had a broader interfrontal suture where the cephalocele emerged between the frontal bones. Mice with a cephalocele positioned near the rostrum also presented craniofacial malformations such as ocular hypertelorism and midfacial cleft of the nose. Gross and histological examination revealed that the lipomatous cephalocele originated as a fluid filled cyst no earlier than E14.5 while embryos with a midfacial cleft was evident during craniofacial development at E11.5. Histological sections of embryos with a midfacial cleft revealed the cephalic neuroectoderm remained proximal or fused to the frontonasal ectoderm about the closure site of the anterior neuropore, indicating a defect to neural tube closure. We found the neural folds along the rostrum of E9-10.5 embryos curled inward and failed to close as well as embryos with exencephaly and anencephaly at later stages. Whole mount in situ hybridization of anterior markers Fgf8 and Shh indicated closure of the rostral site was compromised in severe cases. We present a model demonstrating how anterior cranial cephaloceles are generated following a defect to neural tube closure and relevance to subsequent craniofacial morphogenesis in the tuft mouse. PMID:24931720

  7. 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

  8. 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

  9. 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)

  10. Therapy of percutaneous infection around craniofacial implants.

    PubMed

    Klein, Martin; Weisz, Ilana; Camerer, Christian; Menneking, Horst; Kim, Doris Maria

    2009-01-01

    This study sought to develop treatment strategies for managing percutaneous infection around craniofacial implants. The present general pathogen situation together with a bacterial resistance were determined in 57 infected peri-implant sites. Forty-four implants were randomly assigned for wound cleaning and split into three groups-two with local antibiotics of proven efficacy and one with 3% hydrogen peroxide (H2O2). The pathogen spectrum differed depending on the severity of the infection, with Staphylococcus aureus clearly correlated with the degree of inflammation (positive correlation: R = 0.72). It was observed that the use of additional local antibiotics was not superior to conventional wound cleaning with 3% H2O2. It is suggested that sulcus fluid flow rate measurements could serve as a simple and reliable objective parameter for recall examinations.

  11. Management of secondary turricephaly in craniofacial surgery.

    PubMed

    Sonstein, W J; Hall, C D; Argamaso, R V; Goodrich, J T

    1996-11-01

    In children with syndromic craniofacial disorders, such as Crouzon and Apert syndromes, who are managed surgically, a difficult problem that can occur is secondary turricephaly. One of the more widely accepted theories as to why this deformity occurs is that a lack of skull base growth results from fusion of the basal and facial sutures. Despite initial adequate forehead and orbital bandeau advancement, many of these patients require subsequent procedures, which do not always correct the characteristics deformity. We have identified a subset of 11 syndromic children who developed this characteristic deformity of turricephaly after primary reconstruction, 6 of whom required either secondary or tertiary procedures. Only 5 patients had a good outcome with a mean follow up of 4.5 years (range 1-8 years). Our surgical methods, and our rationale for the timing of surgery are discussed, and the literature on the management of this problem is reviewed.

  12. Heminasal proboscis, a rare craniofacial cleft.

    PubMed

    Hassani, Mohammad Esmaiil; Karimi, Hamid; Hassani, Hosein; Hassani, Ali; Jalili-Manesh, Mohammad

    2014-01-01

    Craniofacial clefts are extremely rare congenital anomalies, the importance of which lies in their great range of variety of anatomic forms and their complex management. Proboscis is one of the rare cases of this kind in which half of the nose is separated from the face and it is only pedicled on the right or left medial canthal regions by a nose-like, rudimentary tubular structure. This article reports the case of a 3-month-old infant with left-sided proboscis. Left lower eyelid coloboma was also present. The proboscis was treated with local flaps at the age of 3 months, and at the age of 10 months the coloboma was managed. PMID:24275777

  13. Stimulating effect of tongue on craniofacial growth.

    PubMed

    Schumacher, G H; Becker, R; Hübner, A; Pommerenke, F

    1991-01-01

    The influence of the tongue on craniofacial growth was studied in 96 Mini-Lewe miniature pigs. The animals were partially glossectomized at different ages and slaughtered at various intervals after operation. The skulls were macerated for biometric analysis. Mandibular growth was significantly reduced lengthwise in animals glossectomized at age 12 weeks. The role played by the tongue in orofacial growth was also indicated by the reduced width of the lower jaw. In pigs partially glossectomized at age 12 weeks, lateral growth of the entire lower jaw was reduced after eight weeks. In animals glossectomized at age six weeks, lateral growth of the lower jaw was reduced in the region of the 1st deciduous molars and the canines after glossectomy. Partial glossectomy had no significant effects on vertical growth of the lower jaw, growth of the upper jaw or overall skull growth. Shortening of the tongue in miniature pigs six weeks old resulted in no measurable jaw changes 23 weeks after surgery.

  14. Reforming craniofacial orthodontics via stem cells

    PubMed Central

    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. PMID:25767761

  15. Application of Digital Anthropometry for Craniofacial Assessment

    PubMed Central

    Jayaratne, Yasas S. N.; Zwahlen, Roger A.

    2014-01-01

    Craniofacial anthropometry is an objective technique based on a series of measurements and proportions, which facilitate the characterization of phenotypic variation and quantification of dysmorphology. With the introduction of stereophotography, it is possible to acquire a lifelike three-dimensional (3D) image of the face with natural color and texture. Most of the traditional anthropometric landmarks can be identified on these 3D photographs using specialized software. Therefore, it has become possible to compute new digital measurements, which were not feasible with traditional instruments. The term “digital anthropometry” has been used by researchers based on such systems to separate their methods from conventional manual measurements. Anthropometry has been traditionally used as a research tool. With the advent of digital anthropometry, this technique can be employed in several disciplines as a noninvasive tool for quantifying facial morphology. The aim of this review is to provide a broad overview of digital anthropometry and discuss its clinical applications. PMID:25050146

  16. Impact of Stem Cells in Craniofacial Regenerative Medicine

    PubMed Central

    Sanchez-Lara, Pedro A.; Zhao, Hu; Bajpai, Ruchi; Abdelhamid, Alaa I.; Warburton, David

    2012-01-01

    Interest regarding stem cell based therapies for the treatment of congenital or acquired craniofacial deformities is rapidly growing. Craniofacial problems such as periodontal disease, cleft lip and palate, ear microtia, craniofacial microsomia, and head and neck cancers are not only common but also some of the most burdensome surgical problems worldwide. Treatments often require a multi-staged multidisciplinary team approach. Current surgical therapies attempt to reduce the morbidity and social/emotional impact, yet outcomes can still be unpredictable and unsatisfactory. The concept of harvesting stem cells followed by expansion, differentiation, seeding onto a scaffold and re-transplanting them is likely to become a clinical reality. In this review, we will summarize the translational applications of stem cell therapy in tissue regeneration for craniofacial defects. PMID:22737127

  17. 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

  18. 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

  19. 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

  20. Skeletal abnormalities of tricho-rhino-phalangeal syndrome type I.

    PubMed

    de Barros, Guilherme Monteiro; Kakehasi, Adriana Maria

    2016-01-01

    The tricho-rhino-phalangeal syndrome (TRPS) type I is a rare genetic disorder related to the TRPS1 gene mutation in chromosome 8, characterized by craniofacial abnormalities and disturbances in formation and maturation of bone matrix. The hallmarks are sparse and brittle hair, tendency to premature baldness, bulbous nose called pear-shaped, long and flat filter and low ear implantation. The most noticeable skeletal changes are clinodactyly, phalangeal epiphyses of the hands appearing as cone-shaped, short stature and hip joint malformations. We report a case of a teenager boy diagnosed with TRPS and referred for rheumatologic evaluation due to joint complaints. PMID:27267340

  1. Obesity and craniofacial variables in subjects with obstructive sleep apnea syndrome: comparisons of cephalometric values

    PubMed Central

    Cuccia, Antonino M; Campisi, Giuseppina; Cannavale, Rosangela; Colella, Giuseppe

    2007-01-01

    Background The aim of this paper was to determine the most common craniofacial changes in patients suffering Obstructive Sleep Apnea Syndrome (OSAS) with regards to the degree of obesity. Accordingly, cephalometric data reported in the literature was searched and analyzed. Methods After a careful analysis of the literature from 1990 to 2006, 5 papers with similar procedural criteria were selected. Inclusion criteria were: recruitment of Caucasian patients with an apnea-hypopnea index (AHI) >10 as grouped in non-obese (Body Mass Index – [BMI] < 30) vs. obese (BMI ≥ 30). Results A low position of the hyoid bone was present in both groups. In non-obese patients, an increased value of the ANB angle and a reduced dimension of the cranial base (S-N) were found to be the most common finding, whereas major skeletal divergence (ANS-PNS ^Go-Me) was evident among obese patients. No strict association was found between OSAS and length of the soft palate. Conclusion In both non-obese and obese OSAS patients, skeletal changes were often evident; with special emphasis of intermaxillary divergence in obese patients. Unexpectedly, in obese OSAS patients, alterations of oropharyngeal soft tissue were not always present and did not prevail. PMID:18154686

  2. ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects.

    PubMed

    Izumi, Kosuke; Brett, Maggie; Nishi, Eriko; Drunat, Séverine; Tan, Ee-Shien; Fujiki, Katsunori; Lebon, Sophie; Cham, Breana; Masuda, Koji; Arakawa, Michiko; Jacquinet, Adeline; Yamazumi, Yusuke; Chen, Shu-Ting; Verloes, Alain; Okada, Yuki; Katou, Yuki; Nakamura, Tomohiko; Akiyama, Tetsu; Gressens, Pierre; Foo, Roger; Passemard, Sandrine; Tan, Ene-Choo; El Ghouzzi, Vincent; Shirahige, Katsuhiko

    2016-08-01

    Cellular homeostasis is maintained by the highly organized cooperation of intracellular trafficking systems, including COPI, COPII, and clathrin complexes. COPI is a coatomer protein complex responsible for intracellular protein transport between the endoplasmic reticulum and the Golgi apparatus. The importance of such intracellular transport mechanisms is underscored by the various disorders, including skeletal disorders such as cranio-lenticulo-sutural dysplasia and osteogenesis imperfect, caused by mutations in the COPII coatomer complex. In this article, we report a clinically recognizable craniofacial disorder characterized by facial dysmorphisms, severe micrognathia, rhizomelic shortening, microcephalic dwarfism, and mild developmental delay due to loss-of-function heterozygous mutations in ARCN1, which encodes the coatomer subunit delta of COPI. ARCN1 mutant cell lines were revealed to have endoplasmic reticulum stress, suggesting the involvement of ER stress response in the pathogenesis of this disorder. Given that ARCN1 deficiency causes defective type I collagen transport, reduction of collagen secretion represents the likely mechanism underlying the skeletal phenotype that characterizes this condition. Our findings demonstrate the importance of COPI-mediated transport in human development, including skeletogenesis and brain growth. PMID:27476655

  3. Combinatorial roles for BMPs and Endothelin 1 in patterning the dorsal-ventral axis of the craniofacial skeleton

    PubMed Central

    Alexander, Courtney; Zuniga, Elizabeth; Blitz, Ira L.; Wada, Naoyuki; Le Pabic, Pierre; Javidan, Yashar; Zhang, Tailin; Cho, Ken W.; Crump, J. Gage; Schilling, Thomas F.

    2011-01-01

    Bone morphogenetic proteins (BMPs) play crucial roles in craniofacial development but little is known about their interactions with other signals, such as Endothelin 1 (Edn1) and Jagged/Notch, which pattern the dorsal-ventral (DV) axis of the pharyngeal arches. Here, we use transgenic zebrafish to monitor and perturb BMP signaling during arch formation. With a BMP-responsive transgene, Tg(Bre:GFP), we show active BMP signaling in neural crest (NC)-derived skeletal precursors of the ventral arches, and in surrounding epithelia. Loss-of-function studies using a heat shock-inducible, dominant-negative BMP receptor 1a [Tg(hs70I:dnBmpr1a-GFP)] to bypass early roles show that BMP signaling is required for ventral arch development just after NC migration, the same stages at which we detect Tg(Bre:GFP). Inhibition of BMP signaling at these stages reduces expression of the ventral signal Edn1, as well as ventral-specific genes such as hand2 and dlx6a in the arches, and expands expression of the dorsal signal jag1b. This results in a loss or reduction of ventral and intermediate skeletal elements and a mis-shapen dorsal arch skeleton. Conversely, ectopic BMP causes dorsal expansion of ventral-specific gene expression and corresponding reductions/transformations of dorsal cartilages. Soon after NC migration, BMP is required to induce Edn1 and overexpression of either signal partially rescues ventral skeletal defects in embryos deficient for the other. However, once arch primordia are established the effects of BMPs become restricted to more ventral and anterior (palate) domains, which do not depend on Edn1. This suggests that BMPs act upstream and in parallel to Edn1 to promote ventral fates in the arches during early DV patterning, but later acquire distinct roles that further subdivide the identities of NC cells to pattern the craniofacial skeleton. PMID:22031543

  4. Computerized craniofacial reconstruction: Conceptual framework and review.

    PubMed

    Claes, Peter; Vandermeulen, Dirk; De Greef, Sven; Willems, Guy; Clement, John Gerald; Suetens, Paul

    2010-09-10

    When confronted with a corpse that is unrecognizable due to its state of decomposition, soft-tissue mutilation or incineration, and if no other identification evidence is available, craniofacial reconstruction (CFR) can be a useful tool in the identification of the body. Traditional methods are based on manual reconstruction by physically modelling a face on a skull replica with clay or plasticine. The progress in computer science and the improvement of medical imaging technologies during recent years has had a significant impact on this domain. New, fast, flexible and computer-based objective reconstruction programs are under development. Employing the newer technologies and permanently evaluating the obtained results will hopefully lead to more accurate reconstructions, beneficial to the added value of CFR methods during crime-scene investigations. A general model-based workflow is observed, when analysing computerized CFR techniques today. The main purpose of this paper is to give an overview of existing computer-based CFR methods up to date defined within a common framework using a general taxonomy. The paper will also discuss the various alternatives and problems which arise during the process of designing a CFR program.

  5. Biomechanics of craniofacial sutures: orthopedic implications.

    PubMed

    Mao, Jeremy J; Wang, Xin; Kopher, Ross A

    2003-04-01

    Sutures are soft connective tissue articulations between craniofacial bones. Suture mechanics deals with patterns of mechanical stress experienced in sutures resulting from natural activities such as mastication and exogenous forces such as orthopedic loading. Patterns of sutural mechanical stress can be delineated readily as sutural strain using strain gages attached over the suture. In mastication, complex sutural strain patterns have been elucidated in a few species. Mechanical stresses are not transmitted in the skull as a continuing gradient, for different sutures are capable of redefining a propagating mechanical force as predominately tensile or compressive strain. Exogenous mechanical forces with engineering waveforms such as static and sine wave at different frequencies induce corresponding waveforms and rates of sutural strain, providing the basis for applying novel mechanical stimuli to engineer sutural growth. The available data on suture mechanics converge to a hypothetical theme that mechanical forces regulate sutural growth by inducing sutural mechanical strain. Various orthopedic therapies, including headgear, facemask, and functional appliances may induce sutural strain, leading to modification of otherwise natural suture growth.

  6. Computerized craniofacial reconstruction: Conceptual framework and review.

    PubMed

    Claes, Peter; Vandermeulen, Dirk; De Greef, Sven; Willems, Guy; Clement, John Gerald; Suetens, Paul

    2010-09-10

    When confronted with a corpse that is unrecognizable due to its state of decomposition, soft-tissue mutilation or incineration, and if no other identification evidence is available, craniofacial reconstruction (CFR) can be a useful tool in the identification of the body. Traditional methods are based on manual reconstruction by physically modelling a face on a skull replica with clay or plasticine. The progress in computer science and the improvement of medical imaging technologies during recent years has had a significant impact on this domain. New, fast, flexible and computer-based objective reconstruction programs are under development. Employing the newer technologies and permanently evaluating the obtained results will hopefully lead to more accurate reconstructions, beneficial to the added value of CFR methods during crime-scene investigations. A general model-based workflow is observed, when analysing computerized CFR techniques today. The main purpose of this paper is to give an overview of existing computer-based CFR methods up to date defined within a common framework using a general taxonomy. The paper will also discuss the various alternatives and problems which arise during the process of designing a CFR program. PMID:20359837

  7. [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. PMID:26194627

  8. 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.

  9. 77 FR 64815 - National Institute of Dental & Craniofacial Research; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-10-23

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Institute of Dental & Craniofacial Research... personal privacy. Name of Committee: National Institute of Dental and Craniofacial Research...

  10. 78 FR 3009 - National Institute of Dental & Craniofacial Research; Notice of Closed Meeting

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    2013-01-15

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Institute of Dental & Craniofacial Research... personal privacy. Name of Committee: National Institute of Dental and Craniofacial Research...

  11. 78 FR 24761 - National Institute of Dental & Craniofacial Research; Notice of Closed Meetings

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    2013-04-26

    ... HUMAN SERVICES National Institutes of Health National Institute of Dental & Craniofacial Research... personal privacy. Name of Committee: National Institute of Dental and Craniofacial Research Special Emphasis Panel; Design and Development of Novel Dental Composite Restorative Systems Review Panel....

  12. 78 FR 59708 - National Institute of Dental and Craniofacial Research; Notice of Closed Meeting

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    2013-09-27

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  13. 75 FR 7486 - National Institute of Dental & Craniofacial Research; Notice of Closed Meetings

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    2010-02-19

    ... HUMAN SERVICES National Institutes of Health National Institute of Dental & Craniofacial Research... personal privacy. Name of Committee: National Institute of Dental and Craniofacial Research Special..., PhD, Scientific Review Officer, Scientific Review Branch, National Institute of Dental...

  14. 76 FR 57061 - National Institute of Dental & Craniofacial Research; Notice of Closed Meeting

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    2011-09-15

    ... HUMAN SERVICES National Institutes of Health National Institute of Dental & Craniofacial Research... personal privacy. Name of Committee: National Institute of Dental and Craniofacial Research Special... Kelly, Scientific Review Officer, Scientific Review Branch, National Inst of Dental &...

  15. 77 FR 57098 - National Institute of Dental & Craniofacial Research; Notice of Closed Meeting

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    2012-09-17

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Institute of Dental & Craniofacial Research... personal privacy. Name of Committee: National Institute of Dental and Craniofacial Research...

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

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    2012-02-22

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  17. 75 FR 8976 - National Institute of Dental & Craniofacial Research; Notice of Closed Meeting

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    2010-02-26

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Institute of Dental & Craniofacial Research... personal privacy. Name of Committee: National Institute of Dental and Craniofacial Research...

  18. 77 FR 76297 - National Institute of Dental & Craniofacial Research; Notice of Closed Meetings

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    2012-12-27

    ... HUMAN SERVICES National Institutes of Health National Institute of Dental & Craniofacial Research...-594-0652, rwagenaa@mail.nih.gov . Name of Committee: National Institute of Dental and Craniofacial...., MS, Scientific Review Officer, Scientific ] Review Branch, National Institute of...

  19. 76 FR 5183 - National Institute of Dental & Craniofacial Research; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-01-28

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Institute of Dental & Craniofacial Research..., Scientific Review Officer, Scientific Review Branch, National Inst. of Dental & Craniofacial...

  20. 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. PMID:26010214

  1. 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

  2. Zebrafish Craniofacial Development: A Window into Early Patterning.

    PubMed

    Mork, Lindsey; Crump, Gage

    2015-01-01

    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.

  3. 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.

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

    PubMed

    Pashay Ahi, Ehsan; 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 (E 2) 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 E 2 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 E 2 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 E 2 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 E 2 during larval head development. PMID:27069811

  5. 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

  6. 77 FR 23488 - National Institute of Dental & Craniofacial Research; Notice of Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-04-19

    ... HUMAN SERVICES National Institutes of Health National Institute of Dental & Craniofacial Research.... App.), notice is hereby given of a meeting of the National Advisory Dental and Craniofacial Research... personal privacy. Name of Committee: National Advisory Dental and Craniofacial Research Council. Date:...

  7. 76 FR 38193 - National Institute of Dental & Craniofacial Research; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-06-29

    ... HUMAN SERVICES National Institutes of Health National Institute of Dental & Craniofacial Research... Institute of Dental and Craniofacial Research Special Emphasis Panel, Review of PAR-11-144 NIDCR U01... of Dental & Craniofacial Research, National Institutes of Health, 6701 Democracy Blvd., Rm...

  8. Clinical applications of orthodontic microimplant anchorage in craniofacial patients.

    PubMed

    Vachiramon, Amornpong; Urata, Mark; Kyung, Hee Moon; Yamashita, Dennis-Duke; Yen, Stephen L-K

    2009-03-01

    Microimplant anchors, also known as temporary anchorage devices, mini- and micro-screws, have been used to enhance orthodontic anchorage for difficult tooth movements. Here, the authors describe how microimplants can be used to help treat craniofacial patients by supporting distraction osteogenesis procedures, maxillary protraction procedures, cleft segment expansion and stabilization, and tooth movement into narrow alveolar cleft sites. While most craniofacial patients are treated without microimplants, it would be worthwhile to identify which cases could benefit from microimplant anchorage. As an adjunct to orthodontic treatment, the microimplant offers a potential method for solving troublesome orthodontic and surgical problems such as guiding distraction procedures with orthodontics when primary teeth are exfoliating, addressing residual maxillary cants after vertical distraction osteogenesis of a ramus, stabilizing an edentulous premaxilla, and moving teeth into atrophic alveolar ridges. These cases are presented to open a dialogue on their possible uses in craniofacial patients.

  9. Craniofacial Asymmetry in Adults With Neglected Congenital Muscular Torticollis

    PubMed Central

    Jeong, Kil-Yong; Min, Kyung-Jay; Woo, Jieun

    2015-01-01

    Objective To evaluate the craniofacial asymmetry in adults with neglected congenital muscular torticollis (CMT) by quantitative assessment based on craniofacial three-dimensional computed tomography (3D-CT). Methods Preoperative craniofacial asymmetry was measured by 3D-CT for 31 CMT subjects ≥18 years of age who visited a tertiary medical center and underwent 3D-CT between January 2009 and December 2013. The relationship between the age and the severity of craniofacial asymmetry was analyzed in reference to anteroposterior length asymmetry of the frontal bone and zygomatic arch, vertical and lateral displacements of the facial landmarks, and mandibular axis rotation. Results The age at CT was 27.71±7.02 years (range, 18-44 years). All intra-class correlation coefficients were higher than 0.7, suggesting good inter-rater reliability (p<0.05) of all the measurements. The frontal and the zygomatic length ratio (i.e., the anteroposterior length asymmetry on the axial plane) was 1.06±0.03 and 1.07±0.03, respectively, which was increased significantly with age in the linear regression analysis (r2=0.176, p=0.019 and r2=0.188, p=0.015, respectively). The vertical or lateral displacement of the facial landmarks and rotation of the mandibular axis did not significantly correlate with age (p>0.05). Conclusion Craniofacial asymmetry of neglected CMT became more severe with age in terms of anteroposterior length asymmetry of the ipsilateral frontal bone and zygomatic arch on the axial plane even after growth cessation. This finding may enhance the understanding of therapeutic strategies for craniofacial asymmetry in adults with neglected CMT. PMID:26161351

  10. Sf3b4-depleted Xenopus embryos: A model to study the pathogenesis of craniofacial defects in Nager syndrome.

    PubMed

    Devotta, Arun; Juraver-Geslin, Hugo; Gonzalez, Jose Antonio; Hong, Chang-Soo; Saint-Jeannet, Jean-Pierre

    2016-07-15

    Mandibulofacial dysostosis (MFD) is a human developmental disorder characterized by defects of the facial bones. It is the second most frequent craniofacial malformation after cleft lip and palate. Nager syndrome combines many features of MFD with a variety of limb defects. Mutations in SF3B4 (splicing factor 3b, subunit 4) gene, which encodes a component of the pre-mRNA spliceosomal complex, were recently identified as a cause of Nager syndrome, accounting for 60% of affected individuals. Nothing is known about the cellular pathogenesis underlying Nager type MFD. Here we describe the first animal model for Nager syndrome, generated by knocking down Sf3b4 function in Xenopus laevis embryos, using morpholino antisense oligonucleotides. Our results indicate that Sf3b4-depleted embryos show reduced expression of the neural crest genes sox10, snail2 and twist at the neural plate border, associated with a broadening of the neural plate. This phenotype can be rescued by injection of wild-type human SF3B4 mRNA but not by mRNAs carrying mutations that cause Nager syndrome. At the tailbud stage, morphant embryos had decreased sox10 and tfap2a expression in the pharyngeal arches, indicative of a reduced number of neural crest cells. Later in development, Sf3b4-depleted tadpoles exhibited hypoplasia of neural crest-derived craniofacial cartilages, phenocopying aspects of the craniofacial skeletal defects seen in Nager syndrome patients. With this animal model we are now poised to gain important insights into the etiology and pathogenesis of Nager type MFD, and to identify the molecular targets of Sf3b4. PMID:26874011

  11. 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

  12. 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.

  13. 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

  14. Comparison of craniofacial morphology, head posture and hyoid bone position with different breathing patterns

    PubMed Central

    Ucar, Faruk Izzet; Ekizer, Abdullah; Uysal, Tancan

    2012-01-01

    Objectives The aim of this study was to evaluate differences in craniofacial morphology, head posture and hyoid bone position between mouth breathing (MB) and nasal breathing (NB) patients. Methods Mouth breathing patients comprised 34 skeletal Class I subjects with a mean age of 12.8 ± 1.5 years (range: 12.0–15.2 years). Thirty-two subjects with skeletal Class I relationship were included in the NB group (mean 13.5 ± 1.3 years; range: 12.2–14.8 years). Twenty-seven measurements (15 angular and 12 linear) were used for the craniofacial analysis. Additionally, 12 measurements were evaluated for head posture (eight measurements) and hyoid bone position (four measurements). Student’s t-test was used for the statistical analysis. Probability values <0.05 were accepted as significant. Results Statistical comparisons showed that sagittal measurements including SNA (p < 0.01), ANB (p < 0.01), A to N perp (p < 0.05), convexity (p < 0.05), IMPA (p < 0.05) and overbite (p < 0.05) measurements were found to be lower in MB patients compared to NB. Vertical measurements including SN-MP (p < 0.01) and PP-GoGn (p < 0.01), S-N (p <0.05) and anterior facial height (p < 0.05) were significantly higher in MB patients, while the odontoid proses and palatal plane angle (OPT-PP) was greater and true vertical line and palatal plane angle (Vert-PP) was smaller in MB patients compared to NB group (p < 0.05 for both). No statistically significant differences were found regarding the hyoid bone position between both groups. Conclusions The maxilla was more retrognathic in MB patients. Additionally, the palatal plane had a posterior rotation in MB patients. However, no significant differences were found in the hyoid bone position between MB and NB patients. PMID:23960542

  15. 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.

  16. 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

  17. 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.

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

    PubMed

    Noack Watt, Kristin E; Achilleos, Annita; Neben, Cynthia L; Merrill, Amy E; Trainor, Paul A

    2016-07-01

    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

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

    PubMed

    Noack Watt, Kristin E; Achilleos, Annita; Neben, Cynthia L; Merrill, Amy E; Trainor, Paul A

    2016-07-01

    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.

  20. 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

  1. From skeletal to cardiovascular disease in 12 steps-the evolution of sclerostin as a major player in CKD-MBD.

    PubMed

    Brandenburg, Vincent M; D'Haese, Patrick; Deck, Annika; Mekahli, Djalila; Meijers, Björn; Neven, Ellen; Evenepoel, Pieter

    2016-02-01

    Canonical Wnt signaling activity contributes to physiological and adaptive bone mineralization and is an essential player in bone remodeling. Sclerostin is a prototypic soluble canonical Wnt signaling pathway inhibitor that is produced in osteocytes and blocks osteoblast differentiation and function. Therefore, sclerostin is a potent inhibitor of bone formation and mineralization. Accordingly, rodent sclerostin-deficiency models exhibit a strong bone phenotype. Moreover, blocking sclerostin represents a promising treatment perspective against osteoporosis. Beyond the bone field novel data definitely associate Wnt signaling in general and sclerostin in particular with ectopic extraosseous mineralization processes, as is evident in cardiovascular calcification or calciphylaxis. Uremia is characterized by parallel occurrence of disordered bone mineralization and accelerated cardiovascular calcification (chronic kidney disease - mineral and bone disorder, CKD-MBD), linking skeletal and cardiovascular disease-the so-called bone-vascular calcification paradox. In consequence, sclerostin may qualify as an emerging player in CKD-MBD. We present a stepwise review approach regarding the rapidly evolving field sclerostin participation in CKD-MBD. Starting from data originating in the classical bone field we look separately at three major areas of CKD-MBD: disturbed mineral metabolism, renal osteodystrophy, and uremic cardiovascular disease. Our review is intended to help the nephrologist revise the potential importance of sclerostin in CKD by focusing on how sclerostin research is gradually evolving from the classical osteoporosis niche into the area of CKD-MBD. In particular, we integrate the limited amount of available data in the context of pediatric nephrology. PMID:25735207

  2. Epigenetically Modified Bone Marrow Stromal Cells in Silk Scaffolds Promote Craniofacial Bone Repair and Wound Healing.

    PubMed

    Han, Qianqian; Yang, Pishan; Wu, Yuwei; Meng, Shu; Sui, Lei; Zhang, Lan; Yu, Liming; Tang, Yin; Jiang, Hua; Xuan, Dongying; Kaplan, David L; Kim, Sung Hoon; Tu, Qisheng; Chen, Jake

    2015-08-01

    Epigenetic regulation of gene expression is a central mechanism that governs cell stemness, determination, commitment, and differentiation. It has been recently found that PHF8, a major H4K20/H3K9 demethylase, plays a critical role in craniofacial and bone development. In this study, we hypothesize that PHF8 promotes osteoblastogenesis by epigenetically regulating the expression of a nuclear matrix protein, special AT-rich sequence-binding protein 2 (SATB2) that plays pivotal roles in skeletal patterning and osteoblast differentiation. Our results showed that expression levels of PHF8 and SATB2 in preosteoblasts and bone marrow stromal cells (BMSCs) increased simultaneously during osteogenic induction. Overexpressing PHF8 in these cells upregulated the expression of SATB2, Runx2, osterix, and bone matrix proteins. Conversely, knockdown of PHF8 reduced the expression of these genes. Furthermore, ChIP assays confirmed that PHF8 specifically bound to the transcription start site (TSS) of the SATB2 promoter, and the expression of H3K9me1 at the TSS region of SATB2 decreased in PHF8 overexpressed group. Implantation of the BMSCs overexpressing PHF8 with silk protein scaffolds promoted bone regeneration in critical-sized defects in mouse calvaria. Taken together, our results demonstrated that PHF8 epigenetically modulates SATB2 activity, triggering BMSCs osteogenic differentiation and facilitating bone formation and regeneration in biodegradable silk scaffolds.

  3. Defective craniofacial development and brain function in a mouse model for depletion of intracellular inositol synthesis.

    PubMed

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

    2014-04-11

    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.

  4. Effect of bite force and diet composition on craniofacial diversification of Southern South American human populations.

    PubMed

    Menéndez, Lumila; Bernal, Valeria; Novellino, Paula; Perez, S Ivan

    2014-09-01

    Ecological factors can be important to shape the patterns of morphological variation among human populations. Particularly, diet plays a fundamental role in craniofacial variation due to both the effect of the nutritional status-mostly dependent on the type and amount of nutrients consumed-on skeletal growth and the localized effects of masticatory forces. We examine these two dimensions of diet and evaluate their influence on morphological diversification of human populations from southern South America during the late Holocene. Cranial morphology was measured as 3D coordinates defining the face, base and vault. Size, form, and shape variables were obtained for 474 adult individuals coming from 12 samples. Diet composition was inferred from carious lesions and δ(13) C data, whereas bite forces were estimated using traits of main jaw muscles. The spatial structure of the morphological and ecological variables was measured using correlograms. The influence of diet composition and bite force on morphometric variation was estimated by a spatial regression model. Cranial variation and diet composition display a geographical structure, while no geographical pattern was observed in bite forces. Cranial variation in size and form is significantly associated with diet composition, suggesting a strong effect of systemic factors on cranial growth. Conversely, bite forces do not contribute significantly to the pattern of morphological variation among the samples analyzed. Overall, these results show that an association between diet composition and hardness cannot be assumed, and highlight the complex relationship between morphological diversification and diet in human populations.

  5. Skeletal stem cells

    PubMed Central

    Bianco, Paolo; Robey, Pamela G.

    2015-01-01

    Skeletal stem cells (SSCs) reside in the postnatal bone marrow and give rise to cartilage, bone, hematopoiesis-supportive stroma and marrow adipocytes in defined in vivo assays. These lineages emerge in a specific sequence during embryonic development and post natal growth, and together comprise a continuous anatomical system, the bone-bone marrow organ. SSCs conjoin skeletal and hematopoietic physiology, and are a tool for understanding and ameliorating skeletal and hematopoietic disorders. Here and in the accompanying poster, we concisely discuss the biology of SSCs in the context of the development and postnatal physiology of skeletal lineages, to which their use in medicine must remain anchored. PMID:25758217

  6. The suture provides a niche for mesenchymal stem cells of craniofacial bones

    PubMed Central

    Zhao, Hu; Feng, Jifan; Ho, Thach-Vu; Grimes, Weston; Urata, Mark; Chai, Yang

    2015-01-01

    Bone tissue undergoes constant turnover supported by stem cells. Recent studies showed that perivascular mesenchymal stem cells (MSCs) contribute to the turnover of long bones. Craniofacial bones are flat bones derived from a different embryonic origin than the long bones. The identity and regulating niche for craniofacial bone MSCs remain unknown. Here, we identify Gli1+ cells within the suture mesenchyme as the major MSC population for craniofacial bones. They are not associated with vasculature, give rise to all craniofacial bones in the adult and are activated during injury repair. Gli1+ cells are typical MSCs in vitro. Ablation of Gli1+ cells leads to craniosynostosis and arrest of skull growth, indicating these cells are an indispensible stem cell population. Twist1+/− mice with craniosynostosis show reduced Gli1+ MSCs in sutures, suggesting that craniosynostosis may result from diminished suture stem cells. Our study indicates that craniofacial sutures provide a unique niche for MSCs for craniofacial bone homeostasis and repair. PMID:25799059

  7. 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.

  8. 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.

  9. Illinois Association of Craniofacial Teams: a new state organization.

    PubMed

    Will, L A; Aduss, M K

    1987-10-01

    The Illinois Association of Craniofacial Teams (IACT) is a not-for-profit organization whose members are the 14 teams that treat patients with craniofacial anomalies in the state of Illinois and adjoining areas. The teams represent more than 200 multidisciplinary health professionals. The group was formed in 1983 to foster cooperation and communication between the teams and to encourage public awareness. In addition to providing educational programs, the organization has focused its attention on standards of care, cost analysis of services, third party reimbursement, and incidence reporting of cleft lip and palate. This report reviews the formation, structure, and accomplishments of IACT so that it may serve as a model or guide for other groups who share its goals.

  10. 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.

  11. A model for interprofessional health care: lessons learned from craniofacial teams.

    PubMed

    Slavkin, Harold C; Sanchez-Lara, Pedro A; Chai, Yang; Urata, Mark

    2014-09-01

    Seventy-six years ago, Herbert K. Cooper, DDS, DSc, LHD, FACD, created the first interprofessional health care team in response to the frequency of craniofacial anomalies and related speech and hearing deficits in Lancaster, Pa. His experiences and those from subsequent "medical-dental-nursing-pharmacy allied health professions" craniofacial teams inform and provide "best practices" for the future of interprofessional education. This paper revisits the genesis of craniofacial teams and highlights successes, challenges and cost benefits applicable today.

  12. A model for interprofessional health care: lessons learned from craniofacial teams.

    PubMed

    Slavkin, Harold C; Sanchez-Lara, Pedro A; Chai, Yang; Urata, Mark

    2014-09-01

    Seventy-six years ago, Herbert K. Cooper, DDS, DSc, LHD, FACD, created the first interprofessional health care team in response to the frequency of craniofacial anomalies and related speech and hearing deficits in Lancaster, Pa. His experiences and those from subsequent "medical-dental-nursing-pharmacy allied health professions" craniofacial teams inform and provide "best practices" for the future of interprofessional education. This paper revisits the genesis of craniofacial teams and highlights successes, challenges and cost benefits applicable today. PMID:25265730

  13. 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

  14. Craniofacial imaging in orthodontics--past present and future.

    PubMed

    Jyothikiran, H; Shanthara, J Ravi; Subbiah, Pradeep; Thomas, Mable

    2014-01-01

    Images of the craniofacial region are an important component of the orthodontic patient record. The gold standard that orthodontic records attempt to achieve is the accurate replication or portrayal of the "anatomic truth". The anatomic truth is the accurate three-dimensional anatomy, static and in function, as it exists in vivo. Despite the diverse image acquisition technologies currently available, the types and standards for imaging presently used in practice have been adopted in an effort to balance the anticipated benefits with associated costs and risks to the patient. Because of these considerations, orthodontists routinely use an array of two-dimensional static imaging techniques to record the three-dimensional anatomy of the craniofacial region. The development of an interactive 3D digital model of a patient's anatomy would greatly improve our ability to determine different treatment options, to monitor changes over time (the fourth dimension), to predict and display final treatment results, and to measure treatment outcomes more accurately. This review explores the different techniques of 3D imaging of the teeth, as well as the recent efforts to create the 'virtual orthodontic patient' by using 3D soft and hard tissue data. A brief overview of some of the commercially available 3D-based technologies, such as OrthoCAD and Invisalign is given at the end. The objective of this review is to provide the clinician with an overview of the currently used imaging methods along with those of the past and also a look at the innovations in craniofacial imaging that are likely to greatly enhance the depiction of craniofacial structures.

  15. Three-dimensional simulation and prediction of craniofacial surgery.

    PubMed

    Meehan, M; Teschner, M; Girod, S

    2003-01-01

    The treatment of patients with complex facial deformities is one of the most challenging multidisciplinary tasks in plastic surgery. Due to advancements in medical technology and surgical techniques in the last 20 years correction of severe malformations has become possible and is performed by highly specialized teams frequently in a single operation. Recent developments in three-dimensional (3-D) imaging techniques have already greatly facilitated diagnosis of complex craniofacial deformities. Computer-based simulation methods for surgical procedures that are based on imaging data have the potential to improve surgical treatment by providing the ability to perform 'virtual surgery' preoperatively and thus reduce patient risk and morbidity intraoperatively. A method is presented for interactive computer-assisted craniofacial plastic surgery planning and visualization, especially simulation of soft tissue changes using an experimental Craniofacial Surgery Planner. The system computes non-linear soft-tissue deformation because of bone realignment. It is capable of simulating bone cutting and bone realignment with integrated interactive collision detection. Furthermore, soft-tissue deformation and cutting due to surgical instruments can be visualized. Simulation processes are based on an individual patient's preoperative 3-D computed tomography and on a 3-D, photo-realistic model of the patient's preoperative appearance obtained by a laser range scanner. Very fast and robust prediction of non-linear soft-tissue deformation is computed by optimizing a non-linear cost function. PMID:14606542

  16. 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.

  17. 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.

  18. Versatility of Distraction Osteogenesis for the Craniofacial Skeleton.

    PubMed

    Klement, Kristen A; Black, Jonathan S; Denny, Arlen D

    2016-05-01

    Malformations of the craniofacial skeleton are common. Restoration of anatomic shape, size, and position has been traditionally accomplished using autologous bone grafting to fill gaps created by surgery and segmental movement. The authors present their practice using distraction in many different ages and settings over 20 years. A retrospective review was performed of all craniofacial patients treated using distraction osteogenesis for mandible, midface, and calvarium. The authors identified 205 patient. Mandible: 112 patients were treated at an average age of 3.4 years. 18.8% of patients required repeat distraction. There was no difference in the neonatal versus older group (P = 0.71). There were significantly higher reoperation rates in syndromic children (P < 0.01). Midface: 58 patients underwent Lefort III distraction at an average age of 13.6 years. One (1.7%) required repeat distraction (Miller syndrome). Five (8.6%) patients underwent subsequent Lefort I advancement for occlusal changes. Calvarium: 33 patients were treated at an average age of 4.7 years. No repeat distractions were performed. One patient required an additional advancement procedure. Distraction demonstrates successful long-term correction of defects in the craniofacial skeleton with the versatility and control needed to treat the wide spectrum of deformity.

  19. 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. PMID:26060056

  20. Feeding difficulties in craniofacial microsomia: a systematic review.

    PubMed

    Caron, C J J M; Pluijmers, B I; Joosten, K F M; Mathijssen, I M J; van der Schroeff, M P; Dunaway, D J; Wolvius, E B; Koudstaal, M J

    2015-06-01

    Patients with craniofacial microsomia are at higher risk of developing obstructive sleep apnoea (OSA), as described in the previous article entitled "Obstructive sleep apnoea in craniofacial microsomia: a systematic review". These patients are also more likely to develop feeding difficulties. The present systematic review provides an overview of the literature on the prevalence, treatment, and follow-up of feeding difficulties in children with craniofacial microsomia (CFM). A search was performed in PubMed, Embase, Cochrane Library, and Web of Science for articles on CFM and feeding difficulties. The following data were extracted from the articles: number of patients, patient characteristics, presence of feeding difficulties, and the treatment and outcomes of feeding difficulties. Eight articles on CFM and feeding difficulties were included, two of which reported the prevalence of feeding difficulties (range 42-83%). Treatment mostly consisted of tube feeding. No information regarding follow-up was found in these articles. According to the literature, feeding difficulties are related to CFM. However, as there have been no prospective studies and few studies have presented objective measurements, no definitive conclusions can be drawn. Prospective studies are needed to determine the prevalence of feeding difficulties in patients with CFM.

  1. Unmasking the ciliopathies: craniofacial defects and the primary cilium.

    PubMed

    Cortés, Claudio R; Metzis, Vicki; Wicking, Carol

    2015-01-01

    Over the past decade, the primary cilium has emerged as a pivotal sensory organelle that acts as a major signaling hub for a number of developmental signaling pathways. In that time, a vast number of proteins involved in trafficking and signaling have been linked to ciliary assembly and/or function, demonstrating the importance of this organelle during embryonic development. Given the central role of the primary cilium in regulating developmental signaling, it is not surprising that its dysfunction results in widespread defects in the embryo, leading to an expanding class of human congenital disorders known as ciliopathies. These disorders are individually rare and phenotypically variable, but together they affect virtually every vertebrate organ system. Features of ciliopathies that are often overlooked, but which are being reported with increasing frequency, are craniofacial abnormalities, ranging from subtle midline defects to full-blown orofacial clefting. The challenge moving forward is to understand the primary mechanism of disease given the link between the primary cilium and a number of developmental signaling pathways (such as hedgehog, platelet-derived growth factor, and WNT signaling) that are essential for craniofacial development. Here, we provide an overview of the diversity of craniofacial abnormalities present in the ciliopathy spectrum, and reveal those defects in common across multiple disorders. Further, we discuss the molecular defects and potential signaling perturbations underlying these anomalies. This provides insight into the mechanisms leading to ciliopathy phenotypes more generally and highlights the prevalence of widespread dysmorphologies resulting from cilia dysfunction. PMID:26173831

  2. Photoanthropometric study of craniofacial traits in individuals with Williams syndrome.

    PubMed

    Hovis, C L; Butler, M G

    1997-06-01

    A photoanthropometric method, which enables an objective description of facial structures, was used to better delineate the craniofacial characteristics of 29 individuals with Williams syndrome (WS; 18 males and 11 females) between the ages of 0 to 10 years, with an average age of 4.0 years. Facial parameters were measured from strict frontal and profile photographic 35-mm slides and compared with other facial measurements from the same face (e.g., palpebral fissure width to bizygomatic diameter). Sixteen photoanthropometric craniofacial indices were developed from 20 measurements (3 from the frontal face, 2 from the eye region, 3 from the nose region, 2 from the mouth region, 4 from the profile face, and 6 from the ear region). Based on our measurements of 29 Williams syndrome individuals, two parameters (e.g. nose length to midface height and palpebral fissure width to bizygomatic diameter) were outside the normal range when compared with photoanthropometric index standards for age established by Stengel-Rutkowski et al. from white control children. Overall, our data supported a high midface height, broad palpebral fissure width, broad interalar distance, short length of back of nose, prominent ears with long narrow conchae, increased chin height, increased inclination of the ears and a narrow bizygomatic diameter in WS patients. These craniofacial parameters (many not previously evaluated in WS patients) may become useful for early detection, and aid in the diagnosis and study of the development of the characteristic face in Williams syndrome subjects. PMID:9237500

  3. 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.

  4. 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.

  5. Growth changes in internal and craniofacial flexion measurements.

    PubMed

    May, R; Sheffer, D B

    1999-09-01

    Growth changes in both internal and craniofacial flexion angles are presented for Pan troglodytes, Gorilla gorilla, and modern humans. The internal flexion angle (IFA) was measured from lateral radiographs, and the craniofacial flexion angle (CFA) was calculated from coordinate data. Stage of dental development is used as a baseline for examination of growth changes and nonparametric correlations between flexion angles and dental development stage are tested for significance. In Gorilla, the IFA increases during growth. The IFA is relatively stable in Pan and modern humans. Pan and Gorilla display an increase in the CFA. However, this angle decreases during growth in modern humans. Flexion angles were derived from coordinate data collected for several early hominid crania. Measurements for two robust australopithecine crania indicate strong internal flexion. It has been suggested that cerebellar expansion in this group may relate to derived features of the posterior cranial base. In general, australopithecine crania exhibit craniofacial flexion intermediate between great apes and modern humans. The "archaic" Homo sapiens specimen from Kabwe is most similar to modern humans. PMID:10490467

  6. Female adolescent craniofacial growth spurts: real or fiction?

    PubMed

    Buschang, Peter H; Jacob, Helder B; Demirjian, Arto

    2013-12-01

    The purpose of the study is to determine whether the various aspects of the craniofacial complex exhibit female adolescent growth spurts. Multilevel polynomial models were used to estimate the growth curves of a mixed-longitudinal sample of 111 untreated females 10-15 years of age. To evaluate the horizontal and vertical movements of the individual landmarks relative to stable structures, the tracings were superimposed on the natural reference structures in the anterior cranial base. The horizontal and vertical growth changes of four landmarks and the changes of three traditional linear measurements were evaluated. Posterior nasal spine (PNS) moved posteriorly at a constant rate of approximately 0.12mm/year. Five measures showed changes in growth velocity (i.e. quadratic growth curves) but not adolescent growth spurts, including the anterior movements of anterior nasal spine (ANS) and pogonion (Pg), the inferior movements of gonion (Go), and the increases in ANS-PNS and condylion to pogonion (Co-Pg). Five measurements, including the inferior movements of ANS, PNS and Pg, the posterior movements of Go, and the increases of Go-Pg exhibited adolescent growth spurts. Peak growth velocities were attained between 11.4 and 12.8 years of age, approximately 0.7-1.4 years earlier in the maxilla than mandible. While the vertical aspects of craniofacial growth exhibit distinct female adolescent growth spurts, with peak rates occurring earlier in the maxilla than mandible, most horizontal aspects of craniofacial growth do not exhibit an adolescent spurt.

  7. 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.,...

  8. 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

  9. Wdr68 requires nuclear access for craniofacial development.

    PubMed

    Wang, Bingyan; Doan, Diana; Roman Petersen, Yanett; Alvarado, Estibaliz; Alvarado, Gregory; Bhandari, Ajay; Mohanty, Aditya; Mohanty, Sudipta; Nissen, Robert M

    2013-01-01

    Wdr68 is a highly conserved scaffolding protein required for craniofacial development and left-right asymmetry. A Ras-Map3k-Wdr68-Dyrk1 signaling relay may mediate these and other diverse signaling events important in development and disease. While the sub-cellular localization of Wdr68 has been shown to be dependent on that of its interaction partners, it is not clear where Wdr68 activity is required during development. Here we show that while a GFP-Wdr68 fusion functionally substituted for craniofacial development in the zebrafish, that a Nuclear Export Signal (NES) fusion protein (GFPNESWdr68) failed to support craniofacial development. As control for NES activity, we show that while GFP-Wdr68 exhibited a pan-cellular distribution in C2C12 cells, the GFPNESWdr68 fusion predominantly localized to the cell cytoplasm, as expected. Interestingly, while GFP-Wdr68 and RFP-Dyrk1a co-localized to the cell nucleus as expected based on the known sub-cellular localization for Dyrk1a, we found that the GFPNESWdr68 fusion redistributed RFP-Dyrk1a to the cell cytoplasm potentially disconnecting the Ras/Dyrk1 signal relay from further downstream targets. Consistent with a nuclear role in gene regulation, we also found that while a transcriptional activation domain fusion, CebpFlagWdr68, functionally substituted for endogenous Wdr68 for craniofacial development, that a transcriptional repression domain fusion, MadFlagWdr68, failed to support craniofacial development. Dyrk1b is required for myogenin (myog) expression in differentiating mouse C2C12 cells and here we report that wdr68 is also important for myog expression in differentiating C2C12 cells. Using a C2C12 cell myog promoter-reporter system, we found that Wdr68 overexpression increased reporter activity while moderate expression levels of MadFlagWdr68 interfered with reporter activity. Taken together, these findings support a nuclear role for Wdr68-containing complexes. PMID:23349862

  10. Skeletal pattern in subjects with temporomandibular joint disorders

    PubMed Central

    Almăşan, Oana Cristina; Almăşan, Horea Artimoniu; Bran, Simion; Lascu, Liana; Iancu, Mihaela; Băciuţ, Grigore

    2013-01-01

    Introduction To establish the skeletal pattern in subjects with malocclusions and temporomandibular disorders (TMD); to assess the relationship between craniofacial skeletal structures and TMD in subjects with malocclusions. Material and methods Sixty-four subjects with malocclusions, over 18 years of age, were included in the study. Temporomandibular disorders were clinically assessed according to the Helkimo Anamnestic Index. Subjects underwent a lateral cephalogram. Subjects were grouped according to the sagittal skeletal pattern (ANB angle) into class I, II and III. Parametric Student tests with equal or unequal variations were used (variations were previously tested with Levene test). Results Twenty-four patients with TMD (experimental sample); 40 patients without TMD (control group); interincisal angle was higher in class I and II (p < 0.05) experimental subjects; overjet was larger in experimental subjects; midline shift and Wits appraisal were broader in the experimental group in all three classes. In class III subjects, the SNB angle was higher in the experimental group (p = 0.01). Joint noises followed by reduced mandible mobility, muscular pain and temporomandibular joint (TMJ) pain were the most frequent symptoms in subjects with TMD and malocclusions. Conclusions Temporomandibular joint status is an important factor to consider when planning orthodontic treatment in patients with severe malocclusions; midline shift, large overjet and deep overbite have been associated with signs and symptoms of TMD. PMID:23515361

  11. Cervical vertebral body fusions in patients with skeletal deep bite.

    PubMed

    Sonnesen, Liselotte; Kjaer, Inger

    2007-10-01

    Cervical column morphology was examined in 41 adult patients with a skeletal deep bite, 23 females aged 22-42 years (mean 27.9) and 18 males aged 21-44 years (mean 30.8) and compared with the cervical column morphology in an adult control group consisting of 21 subjects, 15 females, aged 23-40 years (mean 29.2 years) and six males aged 25-44 years (mean 32.8 years) with neutral occlusion and normal craniofacial morphology. None of the patients or control subjects had received orthodontic treatment. For each individual, a visual assessment of the cervical column and measurements of the cranial base angle, vertical craniofacial dimensions, and morphology of the mandible were performed on a profile radiograph. In the deep bite group, 41.5 per cent had fusion of the cervical vertebrae and 9.8 per cent posterior arch deficiency. The fusion always occurred between C2 and C3. No statistically significant gender differences were found in the occurrence of morphological characteristics of the cervical column (females 43.5 per cent, males 38.9 per cent). Morphological deviations of the cervical column occurred significantly more often in the deep bite group compared with the control group (P < 0.05). Logistic regression analysis showed that the vertical jaw relationship (P < 0.05), overbite (P < 0.001), and upper incisor inclination (P < 0.01) were significantly correlated with fusion of the cervical vertebrae (R(2) = 0.40).

  12. A transgenic line with Gal4 insertion useful to study morphogenesis of craniofacial perichondrium, vascular endothelium-associated cells, floor plate, and dorsal midline radial glia during zebrafish development

    PubMed Central

    Nakayama, Sohei; Ikenaga, Takanori; Kawakami, Koichi; Ono, Fumihito; Hatta, Kohei

    2013-01-01

    Zebrafish is a good model for studying vertebrate development because of the availability of powerful genetic tools. We are interested in the study of the craniofacial skeletal structure of the zebrafish. For this purpose, we performed a gene trap screen and identified a Gal4 gene trap line, SAGFF(LF)134A. We then analyzed the expression pattern of SAGFF(LF)134A;Tg(UAS:GFP) and found that GFP was expressed not only in craniofacial skeletal elements but also in the vascular system, as well as in the nervous system. In craniofacial skeletal elements, strong GFP expression was detected not only in chondrocytes but also in the perichondrium. In the vascular system, GFP was expressed in endothelium-associated cells. In the spinal cord, strong GFP expression was found in the floor plate, and later in the dorsal radial glia located on the midline. Taking advantage of this transgenic line, which drives Gal4 expression in specific tissues, we crossed SAGFF(LF)134A with several UAS reporter lines. In particular, time-lapse imaging of photoconverted floor-plate cells of SAGFF(LF)134A;Tg(UAS:KikGR) revealed that the floor-plate cells changed their shape within 36 hours from cuboidal/trapezoidal to wine glass shaped. Moreover, we identified a novel mode of association between axons and glia. The putative paths for the commissural axons, including pax8-positive CoBL interneurons, were identified as small openings in the basal endfoot of each floor plate. Our results indicate that the transgenic line would be useful for studying the morphogenesis of less-well-characterized tissues of interest, including the perichondrium, dorsal midline radial glia, late-stage floor plate, and vascular endothelium-associated cells. PMID:22348745

  13. 75 FR 55592 - National Institute of Dental & Craniofacial Research; Amended Notice of Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-09-13

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Institute of Dental & Craniofacial Research... Dental and Craniofacial Research Council, September 27, 2010, 8:30 a.m. to September 27, 2010, 3...

  14. 76 FR 23612 - National Institute of Dental & Craniofacial Research; Notice of Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-04-27

    ... HUMAN SERVICES National Institutes of Health National Institute of Dental & Craniofacial Research.... App.), notice is hereby given of a meeting of the National Advisory Dental and Craniofacial Research... constitute a clearly unwarranted invasion of personal privacy. Name of Committee: National Advisory...

  15. 77 FR 49820 - National Institute of Dental & Craniofacial Research; Notice of Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-08-17

    ... HUMAN SERVICES National Institutes of Health National Institute of Dental & Craniofacial Research.... App.), notice is hereby given of a meeting of the National Advisory Dental and Craniofacial Research... constitute a clearly unwarranted invasion of personal privacy. Name of Committee: National Advisory...

  16. 75 FR 51275 - National Institute of Dental and Craniofacial Research; Notice of Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-08-19

    ... HUMAN SERVICES National Institutes of Health National Institute of Dental and Craniofacial Research.... App.), notice is hereby given of a meeting of the National Advisory Dental and Craniofacial Research... constitute a clearly unwarranted invasion of personal privacy. Name of Committee: National Advisory...

  17. 75 FR 82033 - National Institute of Dental and Craniofacial Research; Notice of Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-12-29

    ... HUMAN SERVICES National Institutes of Health National Institute of Dental and Craniofacial Research.... App.), notice is hereby given of a meeting of the National Advisory Dental and Craniofacial Research... constitute a clearly unwarranted invasion of personal privacy. Name of Committee: National Advisory...

  18. 76 FR 51995 - National Institute of Dental & Craniofacial Research; Notice of Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-08-19

    ... HUMAN SERVICES National Institutes of Health National Institute of Dental & Craniofacial Research.... App.), notice is hereby given of a meeting of the National Advisory Dental and Craniofacial Research... constitute a clearly unwarranted invasion of personal privacy. Name of Committee: National Advisory...

  19. 78 FR 65343 - National Institute of Dental & Craniofacial Research; Amended Notice of Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-10-31

    ... published in the Federal Register on September 16, 2013, 78 FR 56902. Meeting date has changed from October... HUMAN SERVICES National Institutes of Health National Institute of Dental & Craniofacial Research... Dental and Craniofacial Research Special Emphasis Panel, October 7, 2013, 10:00 a.m. to October 7,...

  20. 78 FR 24761 - National Institute of Dental & Craniofacial Research; Notice of Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-04-26

    ... HUMAN SERVICES National Institutes of Health National Institute of Dental & Craniofacial Research.... App.), notice is hereby given of a meeting of the National Advisory Dental and Craniofacial Research... constitute a clearly unwarranted invasion of personal privacy. Name of Committee: National Advisory...

  1. 75 FR 4833 - National Institute of Dental & Craniofacial Research; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-01-29

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Institute of Dental & Craniofacial Research.... of Dental & Craniofacial Research, National Institutes of Health, 45 Center Dr., Rm 4AN 32J,...

  2. 75 FR 62546 - National Institute of Dental & Craniofacial Research; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-10-12

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Institute of Dental & Craniofacial Research..., National Inst of Dental & Craniofacial Research, National Institutes of Health, 45 Center Dr. Rm 4AN...

  3. 75 FR 13561 - National Institute of Dental & Craniofacial Research; Notice of Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-03-22

    ... HUMAN SERVICES National Institutes of Health National Institute of Dental & Craniofacial Research.... App.), notice is hereby given of a meeting of the National Advisory Dental and Craniofacial Research... constitute a clearly unwarranted invasion of personal privacy. Name of Committee: National Advisory...

  4. 77 FR 74674 - National Institute of Dental & Craniofacial Research; Notice of Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-12-17

    ... HUMAN SERVICES National Institutes of Health National Institute of Dental & Craniofacial Research.... App.), notice is hereby given of a meeting of the National Advisory Dental and Craniofacial Research... constitute a clearly unwarranted invasion of personal privacy. Name of Committee: National Advisory...

  5. 76 FR 48874 - National Institute Of Dental & Craniofacial Research; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-08-09

    ... HUMAN SERVICES National Institutes of Health National Institute Of Dental & Craniofacial Research... personal privacy. Name of Committee: National Institute of Dental and Craniofacial Research Special Emphasis Panel, Review of RFA-DE-12-002; National Dental Practice-based Research, Network...

  6. 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.

  7. 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. PMID:20227747

  8. 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.

  9. The accuracy of stereolithography in planning craniofacial bone replacement.

    PubMed

    Chang, Peter Shih-Hsin; Parker, Thornwell H; Patrick, Charles W; Miller, Michael J

    2003-03-01

    Stereolithography can be used to produce physical models of the craniofacial skeleton from three-dimensional computed tomography (CT) data. The purpose of this study was to assess its accuracy for modeling osseous defects of the midface. Maxillary resections simulating unilateral maxillectomy (N = 3), bilateral maxillectomy (N = 3), and unilateral orbitomaxillectomy (N = 3) were performed as for sinus tumor resection on nine fresh cadaver skulls. Stereolithographic models (SLMs) were made from the specimen's CT data. The accuracy of SLMs was determined by comparing distances between key landmarks on the skulls and SLMs. Each SLM was grossly accurate with some loss of thin delicate structures. The mean differences in overall dimensions between the SLMs and skull specimens were 1.5 mm (range: 0-5.5 mm) for craniofacial measures, 1.2 mm (range: 0-4.8 mm) for skull base measures, 1.6 (range: 0-5.8 mm) for midface measures, 1.9 mm (range: 0-7.9 mm) for maxilla measures, and 1.5 mm (range: 0-5.7 mm) for orbital measures. The mean differences in defect dimensions were 1.9 mm (range: 0.1-5.7 mm) for unilateral maxillectomy, 0.8 mm (range: 0.2-1.5 mm) for bilateral maxillectomy, and 2.5 mm (range: 0.2-7.0 mm) for orbitomaxillectomy defects. Midface SLMs may be more prone to error than those of other craniofacial regions because of the presence of thin walls and small projections. Thus, one should consider designing midface bone replacements that are larger in critical dimensions than those predicted by preoperative modeling. These findings have important implications for the planning of current surgical methods as well as future applications of tissue-engineered bone replacement.

  10. 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

  11. SP8 regulates signaling centers during craniofacial development

    PubMed Central

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

    2014-01-01

    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

  12. 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

  13. 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

  14. Computerized craniofacial reconstruction using CT-derived implicit surface representations.

    PubMed

    Vandermeulen, Dirk; Claes, Peter; Loeckx, Dirk; De Greef, Sven; Willems, Guy; Suetens, Paul

    2006-05-15

    In forensic craniofacial reconstruction, facial features of an unknown individual are estimated from an unidentified skull, based on a mixture of experimentally obtained guidelines on the relationship between soft tissues and the underlying skeleton. In this paper, we investigate the possibility of using full 3D cross-sectional CT images for establishing a reference database of densely sampled distances between the external surfaces of the skull and head for automated craniofacial reconstruction. For each CT image in the reference database, the hard tissue (skull) and soft tissue (head) volumes are automatically segmented and transformed into signed distance transform (sDT) images, representing for each voxel in this image the Euclidean distance to the closest point on the skull and head surface, respectively, distances being positive (negative) for voxels inside (outside) the skull/head. Multiple craniofacial reconstructions are obtained by first warping each reference skull sDT maps to the target skull sDT using a B-spline based free form deformation algorithm and subsequently applying these warps to the reference head sDT maps. A single reconstruction of the target head surface is defined as the zero level set of the arithmetic average of all warped reference head sDT maps, but other reconstructions are possible, biasing the result to subject specific attributes (age, BMI, gender). Both qualitative and quantitative tests (measuring the similarity between the 3D reconstructed and corresponding original head surface) on a small (N = 20) database are presented to proof the validity of the concept.

  15. 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.

  16. Endoscopic marsupialization of frontoethmoid mucocele with underlying craniofacial fibrous dysplasia.

    PubMed

    Wie, Chan-Eun; Hong, Sung-Lyong; Mun, Sue-Jean; Cho, Kyu-Sup

    2015-01-01

    Fibrous dysplasia (FD) is a benign progressive fibro-osseous lesion that is rarely associated with mucocele formation. This complication most probably results from the involvement and subsequent occlusion of the recesses of the sinuses by the dysplastic process. The frontoethmoid mucocele associated with FD represents a rare pathology, but it is important to consider this in the differential diagnosis of patients with proptosis, visual disturbance, and bony fronto-orbital swellings. Here, we describe the first case of frontoethmoid mucocele with underlying craniofacial FD, which was successfully treated by wide marsupialization via the transnasal endoscopic approach.

  17. Behavioral and Psychosocial Factors in Chronic Craniofacial Pain

    PubMed Central

    Fricton, James R.

    1985-01-01

    Patients with chronic pain have a multifactoral problem that exhibits both physical and psychosocial symptoms. Evaluation includes determination of the physical diagnosis and psychosocial contributing factors on an equal and integrated basis. Contributing factors include any factor that plays a role in initiation and perpetuation or results from and thus, complicates the problem. Management follows with both reduction of contributing factors and treatment of the diagnosis. Contributing factors are classified as biological, behavioral, social, cognitive, emotional, and environmental. Individual factors in each group for chronic craniofacial pain are reviewed. PMID:3857877

  18. Craniofacial biomechanics: an overview of recent multibody modelling studies

    PubMed Central

    Curtis, Neil

    2011-01-01

    Multibody modelling is underutilised in craniofacial analyses, particularly when compared to other computational methods such as finite element analysis. However, there are many potential applications within this area, where bony movements, muscle forces, joint kinematics and bite forces can all be studied. This paper provides an overview of recent, three-dimensional, multibody modelling studies related to the analysis of skulls. The goal of this paper is not to offer a critical review of past studies, but instead intends to inform the reader of what has been achieved with multibody modelling. PMID:21062283

  19. Evolution of oropharyngeal patterning mechanisms involving Dlx and endothelins in vertebrates.

    PubMed

    Kuraku, Shigehiro; Takio, Yoko; Sugahara, Fumiaki; Takechi, Masaki; Kuratani, Shigeru

    2010-05-01

    In jawed vertebrates, the Dlx code, or nested expression patterns of Dlx genes, specify the dorsoventral polarity of pharyngeal arches, downstream of endothelin-1 (Edn-1) and its effectors, Bapx1 (Nkx3.2) and dHand (Hand2). To elucidate the evolution of the specification mechanism of the oropharyngeal skeletal system, lamprey homologs of Dlx, Edn, endothelin receptor (Ednr), Bapx1, and dHand were identified. Our analysis suggested that the Edn gene family emerged at the advent of vertebrates, and that gene duplications leading to the different Edn gnathostome subtypes (Edn1-3) occurred before the cyclostome-gnathostome split. This timing of gene duplications, giving rise to multiple subtypes, was also implied for Dlx, Ednr, Hand, and Bapx. In lamprey embryos, nested expressions of Dlx genes were not observed in pharyngeal arches, nor was any focal expression of Bapx1, known in gnathostomes to specify the jaw joint. The dHand homolog, however, was expressed more intensively ventrally, as in gnathostomes. Lamprey homologs of Edn-1 and EdnrA were also shown to be expressed as described in mice, indicating involvement of this signaling pathway in the craniofacial patterning early in vertebrate evolution. These results suggest that the last common ancestor of all the extant vertebrates would have possessed basic gene repertoires involved in oropharyngeal patterning in gnathostomes, but the elaborate genetic program leading to the Dlx code is likely to have been acquired uniquely in gnathostomes. PMID:20171204

  20. [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).

  1. Identification of Craniofacial Risk Factors for Obstructive Sleep Apnea Using Three-Dimensional MRI

    PubMed Central

    Chi, Luqi; Comyn, Francois-Louis; Mitra, Nandita; Reilly, Muredach P.; Wan, Fei; Maislin, Greg; Chmiewski, Lauren; Thorne-FitzGerald, Matthew D.; Victor, Uduak N.; Pack, Allan I.; Schwab, Richard J.

    2016-01-01

    The alteration of craniofacial structures has been associated with obstructive sleep apnea (OSA). We hypothesized that 1) a smaller mandible is a risk factor for OSA; and 2) the previously observed inferiorly positioned hyoid bone in apneics is associated with enlarged tongue volume. This is a case-control study using three-dimensional MRI cephalometry. 55 apneics and 55 controls were matched for age, gender and race. The analysis was stratified by gender and controlled for age, race, height, neck visceral fat, skeletal type and tongue volume. We found that a 1-SD increase in mandibular length and depth were associated with decreased risk of sleep apnea (odds ratio[OR]=0.52, 95% confidence interval[CI]:0.28-0.99, OR=0.46, 95%CI:0.23-0.91, respectively) in men but not in women. Greater hyoid to nasion (OR=2.64, 95%CI:1.19-5.89 in men; OR=5.01, 95%CI:2.00-12.52 in women) and supramentale-to-hyoid (OR=2.39, 95%CI:1.12-5.14 in men; OR=3.38, 95%CI:1.49-7.68 in women) distances were associated with increased risk of OSA. The difference between apneics and controls for hyoid position was lost after controlling for tongue volume. Enlargement of tongue is likely to be the pathogenic factor for inferior-posterior positioning of hyoid. A small and shallow mandible is an independent risk factor for obstructive sleep apnea in men but not in women. PMID:21233264

  2. Identification of craniofacial risk factors for obstructive sleep apnoea using three-dimensional MRI.

    PubMed

    Chi, L; Comyn, F-L; Mitra, N; Reilly, M P; Wan, F; Maislin, G; Chmiewski, L; Thorne-FitzGerald, M D; Victor, U N; Pack, A I; Schwab, R J

    2011-08-01

    The alteration of craniofacial structures has been associated with obstructive sleep apnoea (OSA). We hypothesised that: 1) a smaller mandible is a risk factor for OSA; and 2) the previously observed inferiorly positioned hyoid bone in apnoeics is associated with enlarged tongue volume. This is a case-control study using three-dimensional magnetic resonance imaging cephalometry. 55 apneics and 55 controls were matched for age, sex and race. The analysis was stratified by sex and controlled for age, race, height, neck visceral fat, skeletal type and tongue volume. We found that a 1-sd increase in mandibular length and depth were associated with decreased risk of sleep apnoea (OR 0.52, 95% CI 0.28-0.99 and OR 0.46, 95% CI 0.23-0.91, respectively) in males but not in females. Greater hyoid-to-nasion (OR 2.64, 95% CI 1.19-5.89 in males and OR 5.01, 95% CI 2.00-12.52 in females) and supramentale-to-hyoid (OR 2.39, 95% CI 1.12-5.14) in males and OR 3.38, 95% CI 1.49-7.68 in females) distances were associated with increased risk of OSA. The difference for hyoid position between apnoeics and controls was lost after controlling for tongue volume. Enlargement of tongue is likely to be the pathogenic factor for inferior-posterior positioning of hyoid. A small and shallow mandible is an independent risk factor for OSA in males but not in females. PMID:21233264

  3. Effects of growth hormone on the ontogenetic allometry of craniofacial bones.

    PubMed

    Gonzalez, Paula N; Kristensen, Erika; Morck, Douglas W; Boyd, Steven; Hallgrímsson, Benedikt

    2013-01-01

    Organism size is controlled by interactions between genetic and environmental factors mediated by hormones with systemic and local effects. As changes in size are usually not isometric, a considerable diversity in shape can be generated through modifications in the patterns of ontogenetic allometry. In this study we evaluated the role of timing and dose of growth hormone (GH) release on growth and correlated shape changes in craniofacial bones. Using a longitudinal study design, we analyzed GH deficient mice treated with GH supplementation commencing pre- and post-puberty. We obtained 3D in vivo micro-CT images of the skull between 21 and 60 days of age and used geometric morphometrics to analyze size and shape changes among control and GH deficient treated and non-treated mice. The variable levels of circulating GH altered the size and shape of the adult skull, and influenced the cranial base, vault, and face differently. While cranial base synchondroses and facial sutures were susceptible to either the direct or indirect effect of GH supplementation, its effect was negligible on the vault. Such different responses support the role of intrinsic growth trajectories of skeletal components in controlling the modifications induced by systemic factors. Contrary to the expected, the timing of GH treatment did not have an effect on catch-up growth. GH levels also altered the ontogenetic trajectories by inducing changes in their location and extension in the shape space, indicating that differences arose before 21 days and were further accentuated by a truncation of the ontogenetic trajectories in GHD groups.

  4. The effect of direction of force to the craniofacial skeleton on the severity of brain injury in patients with a fronto-basal fracture.

    PubMed

    Stephens, J R; Holmes, S; Bulters, D; Evans, B T

    2016-07-01

    The skull base is uniquely positioned to absorb force imparted to the craniofacial skeleton, thereby reducing brain injury. Less well understood is the effect of the direction of force imparted to the craniofacial skeleton on the severity of brain injury. Eighty-one patients from two UK major trauma centres who sustained a fronto-basal fracture were divided into two groups: those struck with predominantly anterior force and those by predominantly lateral force. The first recorded Glasgow Coma Score (GCS), requirement for intubation, and requirement for decompressive craniectomy were used as markers of the severity of brain injury. An average GCS of 5 was found in the lateral group and 14 in the anterior group; this difference was statistically significant (P<0.001). There was an increased need for both intubation and decompressive craniectomy in the lateral group compared to the anterior group (absolute risk difference 46.6% and 15.8%, respectively). These results suggest that the skeletal anatomy of the fronto-basal region influences the severity of head injury. The delicate lattice-like structure in the central anterior cranial fossa can act as a crumple zone, absorbing force. Conversely in the lateral aspect of the anterior cranial fossa, there is a lack of collapsible interface, resulting in an increased energy transfer to the brain.

  5. Craniofacial defect regeneration using engineered bone marrow mesenchymal stromal cells.

    PubMed

    Yang, Yi; Hallgrimsson, Benedikt; Putnins, Edward E

    2011-10-01

    Large craniofacial bony defects remain a significant clinical challenge. Bone marrow mesenchymal stromal cells (BM-MSCs) constitute a multipotent population. Previously, we developed a novel approach for BM-MSC expansion on 3D CultiSpher-S gelatin microcarrier beads in spin culture with preservation of their multipotentiality, reduction of apoptosis, and enhancement of bone formation in vivo. Here, we hypothesized that such cultured BM-MSCs without exogenous growth factors would respond to the orthopedic microenvironment, thus promoting craniofacial defect regeneration. BM-MSCs isolated from green fluorescent protein (GFP) transgenic rats were ex vivo expanded and transplanted into critical-sized (5-mm diameter) rat calvaria defects. Gelatin beads or defect alone served as controls. By 28 and 42 days, rats were sacrificed for microcomputed tomography (microCT), histologic, and immunohistochemistry examination. MicroCT results demonstrated that BM-MSCs were a statistically significant factor contributing to new bone volume regeneration. Histologic assessment showed that the BM-MSCs group produced more and higher quality new bone compared with beads or defect-alone groups in both osteoinductive and osteoconductive manners. Specifically, immunohistochemical staining identified GFP(+) cells residing in new bone lacunae in conjunction with non-GFP(+) cells. Therefore, ex vivo expanded BM-MSCs at least in part regenerated critical-sized calvaria defects by osteogenic differentiation in vivo.

  6. 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. PMID:24780627

  7. A Gene Expression Atlas of Early Craniofacial Development

    PubMed Central

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

    2014-01-01

    We present a gene expression atlas of early mouse craniofacial development. Laser capture microdissection (LCM) was used to isolate cells from the principal critical micro-regions, 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. PMID:24780627

  8. Evaluation of anatomical consistency in craniofacial superimposition images.

    PubMed

    Yoshino, M; Imaizumi, K; Miyasaka, S; Seta, S

    1995-06-30

    Using 52 skulls in forensic cases, the anatomical consistency of cranio-facial superimposition images was investigated for evaluating the validity in personal identification by the superimposition method. In 35 out of 52 cases the unknown skull was positively identified as the missing person by matching of the outline and anatomical relation in skull and face images taken from frontal, oblique and lateral directions. The unknown skull in two cases was exclusive of the presumed person since the outline of the skull was not anatomically consistent with that of the face. In the remaining 15 cases, the skull in question was examined using only a frontal face photograph of the missing person and matched with it because of the lack of other photographs taken from different angles, giving a probable identification. From our practical examination, it is stated that the outline from the trichion to the gnathion in the lateral or oblique view is the preferable portion for personal identification, and the cranio-facial super-imposition method is reliable for individualization when two or more facial photographs taken from different angles are used in the examination.

  9. 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. PMID:26335587

  10. IFT46 plays crucial roles in craniofacial and cilia development.

    PubMed

    Park, Inji; Lee, Hyun-Kyung; Kim, Chowon; Ismail, Tayaba; Kim, Yoo-Kyung; Park, Jeen-Woo; Kwon, Oh-Shin; Kang, Beom Sik; Lee, Dong-Seok; Park, Tae-Joo; Park, Mae-Ja; Choi, Sun-Cheol; Lee, Hyun-Shik

    2016-08-26

    The intraflagellar transport (IFT) system is essential for bidirectional movement of ciliary components from the basal body to the tip beneath the ciliary sheath and is conserved for cilia and flagella formation in most vertebrates. IFT complex A is involved in anterograde trafficking, whereas complex B is involved in retrograde trafficking. IFT46 is well known as a crucial component of IFT complex B, however, its developmental functions are poorly understood. In this study, we investigated the novel functions of IFT46 during vertebrate development, especially, ciliogenesis and neurogenesis, because IFT46 is strongly expressed in both multiciliated cells of epithelial and neural tissues. Knockdown of IFT46 using morpholino microinjections caused shortening of the body axis as well as the formation of fewer and shorter cilia. Furthermore, loss of IFT46 down-regulated the expression of the neural plate and neural tube markers, thus may influence Wnt/planar cell polarity and the sonic hedgehog signaling pathway during neurogenesis. In addition, loss of IFT46 caused craniofacial defects by interfering with cartilage formation. In conclusion, our results depict that IFT46 plays important roles in cilia as well as in neural and craniofacial development. PMID:27320864

  11. ALX4 dysfunction disrupts craniofacial and epidermal development.

    PubMed

    Kayserili, Hulya; Uz, Elif; Niessen, Carien; Vargel, Ibrahim; Alanay, Yasemin; Tuncbilek, Gokhan; Yigit, Gokhan; Uyguner, Oya; Candan, Sukru; Okur, Hamza; Kaygin, Serkan; Balci, Sevim; Mavili, Emin; Alikasifoglu, Mehmet; Haase, Ingo; Wollnik, Bernd; Akarsu, Nurten Ayse

    2009-11-15

    Genetic control of craniofacial morphogenesis requires a complex interaction of numerous genes encoding factors essential for patterning and differentiation. We present two Turkish families with a new autosomal recessive frontofacial dysostosis syndrome characterized by total alopecia, a large skull defect, coronal craniosynostosis, hypertelorism, severely depressed nasal bridge and ridge, bifid nasal tip, hypogonadism, callosal body agenesis and mental retardation. Using homozygosity mapping, we mapped the entity to chromosome 11p11.2-q12.3 and subsequently identified a homozygous c.793C-->T nonsense mutation in the human ortholog of the mouse aristaless-like homeobox 4 (ALX4) gene. This mutation is predicted to result in a premature stop codon (p.R265X) of ALX4 truncating 146 amino acids of the protein including a part of the highly conserved homeodomain and the C-terminal paired tail domain. Although the RNA is stable and not degraded by nonsense-mediated RNA decay, the mutant protein is likely to be non-functional. In a skin biopsy of an affected individual, we observed a hypomorphic interfollicular epidermis with reduced suprabasal layers associated with impaired interfollicular epidermal differentiation. Hair follicle-like structures were present but showed altered differentiation. Our data indicate that ALX4 plays a critical role both in craniofacial development as in skin and hair follicle development in human.

  12. 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.

  13. The affect of tissue depth variation on craniofacial reconstructions.

    PubMed

    Starbuck, John M; Ward, Richard E

    2007-10-25

    We examined the affect of tissue depth variation on the reconstruction of facial form, through the application of the American method, utilizing published tissue depth measurements for emaciated, normal, and obese faces. In this preliminary study, three reconstructions were created on reproductions of the same skull for each set of tissue depth measurements. The resulting morphological variation was measured quantitatively using the anthropometric craniofacial variability index (CVI). This method employs 16 standard craniofacial anthropometric measurements and the results reflect "pattern variation" or facial harmony. We report no appreciable variation in the quantitative measure of the pattern facial form obtained from the three different sets of tissue depths. Facial similarity was assessed qualitatively utilizing surveys of photographs of the three reconstructions. Surveys indicated that subjects frequently perceived the reconstructions as representing different individuals. This disagreement indicates that size of the face may blind observers to similarities in facial form. This research is significant because it illustrates the confounding effect that normal human variation contributes in the successful recognition of individuals from a representational three-dimensional facial reconstruction. Research results suggest that successful identification could be increased if multiple reconstructions were created which reflect a wide range of possible outcomes for facial form. The creation of multiple facial images, from a single skull, will be facilitated as computerized versions of facial reconstruction are further developed and refined. PMID:17353107

  14. 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

  15. 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. PMID:25534053

  16. Possible sex-discriminant variables in craniofacial growth in clefting.

    PubMed

    Long, R E; Jain, R B; Krogman, W M

    1982-11-01

    In this investigation, 174 patients with orofacial clefts were examined for identification of possible sex differences in craniodentofacial measurements. The patients were selected from the longitudinal growth files of the H. K. Cooper Clinic. Records available for analysis were serial lateral cephalometric radiographs from the age of 1 month to 10 years. Patients were grouped by cleft type and sex within each cleft group (78 cleft palate only, 64 unilateral cleft of lip and palate, 32 bilateral cleft of lip and palate). Stepwise discriminant analysis of fourteen linear and angular craniofacial dimensions was used to identify those variables which contributed to sex differences within each cleft group over the growth/time intervals examined. Results suggested the possibility of sex-related differences in growth timing, that is, earlier maturation and growth in females in several craniofacial areas which did not appear to be related to the presence, absence, or type of cleft but which could possibly modify cleft-specific responses to treatment (cranial base dimensions, face heights). Other sex-related differences appeared to be more specifically related to known sex differences in original cleft type and severity (mandibular size and position, midfacial dimensions). The manner in which these various sex factors interface with environmental and therapeutic influences in producing the ultimate craniodentofacial morphology in a given sex and cleft type is discussed.

  17. 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.

  18. Brain, Craniofacial, and Dental Lesions of a Free-ranging Gray Wolf (Canis lupus) Implicated in a Human Attack in Minnesota, USA.

    PubMed

    Schwabenlander, Marc; Stepaniuk, Kevin; Carstensen, Michelle; Armién, Aníbal G

    2016-01-01

    We describe significant brain, craniofacial, and dental lesions in a free-ranging wolf (Canis lupus) involved in a human attack. On postmortem examination, the wolf presented asymmetric atrophy and bone remodeling affecting the mandible, incisive, maxilla, lacrimal, palatine, frontal, and ethmoid bones. There was an asymmetrical skeletal malocclusion and dental abnormalities including rotated, malpositioned, partially erupted teeth, and an odontogenic cyst associated with an unerupted canine tooth. Brain changes were bilateral loss and atrophy of extensive cortex regions including olfactory bulb, peduncles, and tract, and the frontal lobe. We highlight the relevance of a thorough postmortem examination of wildlife to elucidate disease-based abnormal behavior as the reason for human-animal conflict. PMID:26540333

  19. Brain, Craniofacial, and Dental Lesions of a Free-ranging Gray Wolf (Canis lupus) Implicated in a Human Attack in Minnesota, USA.

    PubMed

    Schwabenlander, Marc; Stepaniuk, Kevin; Carstensen, Michelle; Armién, Aníbal G

    2016-01-01

    We describe significant brain, craniofacial, and dental lesions in a free-ranging wolf (Canis lupus) involved in a human attack. On postmortem examination, the wolf presented asymmetric atrophy and bone remodeling affecting the mandible, incisive, maxilla, lacrimal, palatine, frontal, and ethmoid bones. There was an asymmetrical skeletal malocclusion and dental abnormalities including rotated, malpositioned, partially erupted teeth, and an odontogenic cyst associated with an unerupted canine tooth. Brain changes were bilateral loss and atrophy of extensive cortex regions including olfactory bulb, peduncles, and tract, and the frontal lobe. We highlight the relevance of a thorough postmortem examination of wildlife to elucidate disease-based abnormal behavior as the reason for human-animal conflict.

  20. 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.

  1. 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. PMID:26482539

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

    PubMed

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

    2013-08-01

    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

  3. [Pringle's disease with skeletal changes].

    PubMed

    Schöner, N; Kloss, R; Ellegast, H; Zelger, J

    1980-06-01

    A 45 year old woman with Pringle's disease (adenoma sebaceum), gingival and digital fibromas is reported, who had also characteristical skeletal lesions. Three of five children have cutaneous lesions, one of them also skeletal lesions.

  4. Craniofacial ciliopathies: An expanding oral disease spectrum - a review of literature and a case report

    PubMed Central

    Raja, Jigna V.; Asha, M. L.; Kumar, G. Arun; Sattigeri, Anupama V.; Malhotra, Diksha

    2016-01-01

    For all intents and purposes, craniofacial development is initiated as soon as the anteroposterior axis of an embryo is established. Although the neural crest receives a significant amount of attention, craniofacial tissue has more patterning information than other tissues of the body. New studies have further clarifi ed the contribution of ciliary epithelia as a source of patterning information for the face. In this paper, we review the craniofacial anomalies in patients with ciliopathies, in which orofacial region is a pivotal recognition of the disorder. Also, a case report of a patient with suspected ciliopathy has been presented along with a logical approach for diagnosis of such disorders.

  5. 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

  6. Bioengineering strategies for regeneration of craniofacial bone: a review of emerging technologies.

    PubMed

    Ward, B B; Brown, S E; Krebsbach, P H

    2010-11-01

    Although advances in surgical techniques and bone grafting have significantly improved the functional and cosmetic restoration of craniofacial structures lost because of trauma or disease, there are still significant limitations in our ability to regenerate these tissues. The regeneration of oral and craniofacial tissues presents a formidable challenge that requires synthesis of basic science, clinical science, and engineering technology. Tissue engineering is an interdisciplinary field of study that addresses this challenge by applying the principles of engineering to biology and medicine toward the development of biological substitutes that restore, maintain, and improve normal function. This review will explore the impact of biomaterials design, stem cell biology and gene therapy on craniofacial tissue engineering.

  7. Structure of Skeletal Muscle

    MedlinePlus

    ... Cells, Tissues, & Membranes Cell Structure & Function Cell Structure Cell Function Body Tissues Epithelial Tissue Connective Tissue Muscle Tissue ... nerves. This is directly related to the primary function of skeletal muscle, ... an impulse from a nerve cell. Generally, an artery and at least one vein ...

  8. Therapeutic ultrasound applications in craniofacial growth, healing and tissue engineering.

    PubMed

    El-Bialy, Tarek

    2007-09-01

    Previous reports have shown that therapeutic ultrasound enhances healing of fractured bone as well as cut tendons. Moreover, it has been shown that therapeutic ultrasound enhances bone formation during distraction osteogenesis that is also known as Ilizarove technique. It has been recently reported that therapeutic ultrasound enhances tooth formation and eruption during mandible distraction osteogenesis in rabbits. This enhanced tooth formation and eruption was caused by new dental tissue formation, known as dentin and cementum. This led to a clinical trial in human that showed that therapeutic ultrasound can enhance repairing tooth root resorption caused by orthodontic treatment. This discovery can lead to many applications of ultrasound in the dental as well as in the craniofacial reconstructions. This paper provides an overview of the molecular basis of the achieved clinical results. Moreover, potential future application will be elaborated.

  9. Craniofacial Microsomia: Goldenhar Syndrome in Association with Bilateral Congenital Cataract

    PubMed Central

    Shrestha, U. D.; Adhikari, S.

    2015-01-01

    Craniofacial microsomia (CFM) includes a spectrum of malformations primarily involving structures derived from the first and second branchial arches. Patients with hemifacial microsomia and epibulbar dermoids are said to have Goldenhar syndrome (GHS). Four-month-old boy with whitish pupillary reflex presented with the features of GHS in pediatric ophthalmology clinic. The child had ocular and auricular manifestations. There were no vertebral anomalies, but he had bilateral congenital cataract. The peculiarity of this case is the presence of the bilateral total congenital cataract, in association with CFM. There is absence of epibulbar dermoid or lipodermoid in the eyes, although the child had features of GHS. In addition to it, anesthetic intubation was smooth in this case. Any case diagnosed with CFM and/or GHS needs treatment through multidisciplinary approach, consultation in ophthalmology department is one of them. PMID:26635984

  10. The emerging roles of ribosome biogenesis in craniofacial development.

    PubMed

    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

  11. "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.

  12. 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

  13. Craniofacial and dental characteristics of cartilage-hair hypoplasia.

    PubMed

    Rönning, O; Myllarniemi, S; Perheentupa, J

    1978-01-01

    The cranio-facial and dental features were studied by means of roentgencephalometry and anthropometry in 24 patients with cartilage-hair-hypoplasia. Data pertaining to the cranial base were considered indicative of subnormal growth in some of the cranial synchondroses. The width of the neurocranium was slightly below the values of the controls, whereas neurocranial length and circumference appeared unaffected. Facial height was larger than in the controls and facial index values were high. The chin was receding, but the other values of facial depth were relatively large. No abnormalities were observed in tooth morphology, dental age, or dental occlusion. The neurocranial morphology in CHH and achondroplasia show some similarities; the skull base, however, is clearly less bent in the CHH-syndrome. This, together with the virtually normal face and dentition in CHH-patients, is, perhaps, of differential diagnostic value.

  14. Biomedical discovery acceleration, with applications to craniofacial development.

    PubMed

    Leach, Sonia M; Tipney, Hannah; Feng, Weiguo; Baumgartner, William A; Kasliwal, Priyanka; Schuyler, Ronald P; Williams, Trevor; Spritz, Richard A; Hunter, Lawrence

    2009-03-01

    The profusion of high-throughput instruments and the explosion of new results in the scientific literature, particularly in molecular biomedicine, is both a blessing and a curse to the bench researcher. Even knowledgeable and experienced scientists can benefit from computational tools that help navigate this vast and rapidly evolving terrain. In this paper, we describe a novel computational approach to this challenge, a knowledge-based system that combines reading, reasoning, and reporting methods to facilitate analysis of experimental data. Reading methods extract information from external resources, either by parsing structured data or using biomedical language processing to extract information from unstructured data, and track knowledge provenance. Reasoning methods enrich the knowledge that results from reading by, for example, noting two genes that are annotated to the same ontology term or database entry. Reasoning is also used to combine all sources into a knowledge network that represents the integration of all sorts of relationships between a pair of genes, and to calculate a combined reliability score. Reporting methods combine the knowledge network with a congruent network constructed from experimental data and visualize the combined network in a tool that facilitates the knowledge-based analysis of that data. An implementation of this approach, called the Hanalyzer, is demonstrated on a large-scale gene expression array dataset relevant to craniofacial development. The use of the tool was critical in the creation of hypotheses regarding the roles of four genes never previously characterized as involved in craniofacial development; each of these hypotheses was validated by further experimental work.

  15. Biomedical Discovery Acceleration, with Applications to Craniofacial Development

    PubMed Central

    Feng, Weiguo; Baumgartner, William A.; Kasliwal, Priyanka; Schuyler, Ronald P.; Williams, Trevor; Spritz, Richard A.; Hunter, Lawrence

    2009-01-01

    The profusion of high-throughput instruments and the explosion of new results in the scientific literature, particularly in molecular biomedicine, is both a blessing and a curse to the bench researcher. Even knowledgeable and experienced scientists can benefit from computational tools that help navigate this vast and rapidly evolving terrain. In this paper, we describe a novel computational approach to this challenge, a knowledge-based system that combines reading, reasoning, and reporting methods to facilitate analysis of experimental data. Reading methods extract information from external resources, either by parsing structured data or using biomedical language processing to extract information from unstructured data, and track knowledge provenance. Reasoning methods enrich the knowledge that results from reading by, for example, noting two genes that are annotated to the same ontology term or database entry. Reasoning is also used to combine all sources into a knowledge network that represents the integration of all sorts of relationships between a pair of genes, and to calculate a combined reliability score. Reporting methods combine the knowledge network with a congruent network constructed from experimental data and visualize the combined network in a tool that facilitates the knowledge-based analysis of that data. An implementation of this approach, called the Hanalyzer, is demonstrated on a large-scale gene expression array dataset relevant to craniofacial development. The use of the tool was critical in the creation of hypotheses regarding the roles of four genes never previously characterized as involved in craniofacial development; each of these hypotheses was validated by further experimental work. PMID:19325874

  16. Ecogeographical and phylogenetic effects on craniofacial variation in macaques.

    PubMed

    Ito, Tsuyoshi; Nishimura, Takeshi; Takai, Masanaru

    2014-05-01

    The widespread and complex ecogeographical diversity of macaques may have caused adaptive morphological convergence among four phylogenetic subgroups, making their phylogenetic relationships unclear. We used geometric morphometrics and multivariate analyses to test the null hypothesis that craniofacial morphology does not vary with ecogeographical and phylogenetic factors. As predicted by Bergmann's rule, size was larger for the fascicularis and sinica groups in colder environments. No clear size cline was observed in the silenus and sylvanus groups. An allometric pattern was observed across macaques, indicating that as size increases, rounded faces become more elongated. However, the elevation was differentiated within each of the former two groups and between the silenus and sylvanus groups, and the slope decreased in each of the two northern species of the fascicularis group. All allometric changes resulted in the similar situation of the face being more rounded in animals inhabiting colder zones and/or in animals having a larger body size than that predicted from the overarching allometric pattern. For non-allometric components, variations in prognathism were significantly correlated with dietary differences; variations in localized shape components in zygomatics and muzzles were significantly correlated with phylogenetic differences among the subgroups. The common allometric pattern was probably influenced directly or indirectly by climate-related factors, which are pressures favoring a more rounded face in colder environments and/or a more elongated face in warmer environments. Allometric dissociation could have occurred several times in Macaca even within a subgroup because of their wide latitudinal distributions, critically impairing the taxonomic utility of craniofacial elongation. PMID:24449333

  17. Characterization of porous polymethylmethacrylate space maintainers for craniofacial reconstruction.

    PubMed

    Wang, Limin; Yoon, Diana M; Spicer, Patrick P; Henslee, Allan M; Scott, David W; Wong, Mark E; Kasper, F Kurtis; Mikos, Antonios G

    2013-07-01

    Porous polymethylmethacrylate (PMMA) has been used as an alloplastic bone substitute in the craniofacial complex, showing integration with the surrounding soft and hard tissue. This study investigated the physicochemical properties of curing and cured mixtures of a PMMA-based bone cement and a carboxymethylcellulose (CMC) gel porogen. Four formulations yielding porous PMMA of varied porosity were examined; specifically, two groups containing 30% (w/w) CMC gel in the mixture using a 7% (w/v) or 9% (w/v) stock CMC gel (30-7 and 30-9, respectively) and two groups containing 40% (w/w) CMC gel (40-7 and 40-9). An additional group comprising solid PMMA without CMC was investigated. The incorporation of the CMC gel into the PMMA bone cement during polymerization decreased the setting time from 608 ± 12 s for the solid PMMA to 427 ± 10 s for the 40-9 group, and decreased the maximum temperature from 81 ± 4°C for the solid PMMA to 38 ± 2°C for the 40-9 group. The porous PMMA groups exhibited reduced compressive strength and bending modulus and strength relative to the solid PMMA. All the porous PMMA formulations released more unconverted methylmethacrylate (MMA) monomer and N,N-dimethyl-p-toluidine (DMT) from cured specimens and less MMA and DMT from curing specimens than the solid PMMA. The data suggest that the physicochemical properties of the porous PMMA formulations are appropriate for their application in craniofacial space maintenance.

  18. 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.

  19. 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

  20. 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...

  1. 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.

  2. Postnatal Development of the Craniofacial Skeleton in Male C57BL/6J Mice

    PubMed Central

    2016-01-01

    C57BL/6J is one of the most commonly used inbred mouse strains in biomedical research, including studies of craniofacial development and teratogenic studies of craniofacial malformation. The current study quantitatively assessed the development of the skull in male C57BL/6J mice by using high-resolution 3D imaging of 55 landmarks from 48 male mice over 10 developmental time points from postnatal day 0 to 90. The growth of the skull plateaued at approximately postnatal day 60, and the shape of the skull did not change markedly thereafter. The amount of asymmetry in the craniofacial skeleton seemed to peak at birth, but considerable variation persisted in all age groups. For C57BL/6J male mice, postnatal day 60 is the earliest time point at which the skull achieves its adult shape and proportions. In addition, C57BL/6J male mice appear to have an inherent susceptibility to craniofacial malformation. PMID:27025802

  3. 76 FR 30370 - National Institute of Dental and Craniofacial Research; Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-05-25

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Institute of Dental and Craniofacial Research... unwarranted invasion of personal privacy. Name of Committee: National Institute of Dental and...

  4. 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.

  5. Thyroid hormone and retinoic acid interact to regulate zebrafish craniofacial neural crest development.

    PubMed

    Bohnsack, Brenda L; Kahana, Alon

    2013-01-15

    Craniofacial and ocular morphogenesis require proper regulation of cranial neural crest migration, proliferation, survival and differentiation. Although alterations in maternal thyroid hormone (TH) are associated with congenital craniofacial anomalies, the role of TH on the neural crest has not been previously described. Using zebrafish, we demonstrate that pharmacologic and genetic alterations in TH signaling disrupt cranial neural crest migration, proliferation, and survival, leading to craniofacial, extraocular muscle, and ocular developmental abnormalities. In the rostral cranial neural crest that gives rise to the periocular mesenchyme and the frontonasal process, retinoic acid (RA) rescued migratory defects induced by decreased TH signaling. In the caudal cranial neural crest, TH and RA had reciprocal effects on anterior and posterior pharyngeal arch development. The interactions between TH and RA signaling were partially mediated by the retinoid X receptor. We conclude that TH regulates both rostral and caudal cranial neural crest. Further, coordinated interactions of TH and RA are required for proper craniofacial and ocular development.

  6. Thyroid Hormone and Retinoic Acid Interact to Regulate Zebrafish Craniofacial Neural Crest Development

    PubMed Central

    Bohnsack, Brenda L.; Kahana, Alon

    2012-01-01

    Craniofacial and ocular morphogenesis requires proper regulation of cranial neural crest migration, proliferation, survival and differentiation. Although alterations in maternal thyroid hormone (TH) are associated with congenital craniofacial anomalies, the role of TH on the neural crest has not been previously described. Using zebrafish, we demonstrate that pharmacologic and genetic alterations in TH signaling disrupt cranial neural crest migration, proliferation, and survival, leading to craniofacial, extraocular muscle, and ocular developmental abnormalities. In the rostral cranial neural crest that gives rise to the periocular mesenchyme and the frontonasal process, retinoic acid (RA) rescued migratory defects induced by decreased TH signaling. In the caudal cranial neural crest, TH and RA had reciprocal effects on anterior and posterior pharyngeal arch development. The interactions between TH and RA signaling were partially mediated by the retinoid X receptor. We conclude that TH regulates both rostral and caudal cranial neural crest. Further, coordinated interactions of TH and RA are required for proper craniofacial and ocular development. PMID:23165295

  7. The Use of Genetic Programming for Learning 3D Craniofacial Shape Quantifications.

    PubMed

    Atmosukarto, Indriyati; Shapiro, Linda G; Heike, Carrie

    2010-01-01

    Craniofacial disorders commonly result in various head shape dysmorphologies. The goal of this work is to quantify the various 3D shape variations that manifest in the different facial abnormalities in individuals with a craniofacial disorder called 22q11.2 Deletion Syndrome. Genetic programming (GP) is used to learn the different 3D shape quantifications. Experimental results show that the GP method achieves a higher classification rate than those of human experts and existing computer algorithms [1], [2].

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

    PubMed

    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

    2014-12-01

    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

  9. 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

  10. Cdh1 regulates craniofacial development via APC-dependent ubiquitination and activation of Goosecoid.

    PubMed

    Shao, Rui; Liu, Jia; Yan, Guang; Zhang, Jinfang; Han, Yujiao; Guo, Jianfeng; Xu, Zhan; Yuan, Zhu; Liu, Jiankang; Malumbres, Marcos; Wan, Lixin; Wei, Wenyi; Zou, Weiguo

    2016-06-01

    Craniofacial anomalies (CFAs) characterized by birth defects of skull and facial bones are the most frequent congenital disease. Genomic analysis has identified multiple genes responsible for CFAs; however, the underlying genetic mechanisms for the majority of CFAs remain largely unclear. Our previous study revealed that the Wwp2 E3 ubiquitin ligase facilitates craniofacial development in part through inducing monoubiquitination and activation of the paired-like homeobox transcription factor, Goosecoid (Gsc). Here we report that Gsc is also ubiquitinated and activated by the APC(Cdh1) E3 ubiquitin ligase, leading to transcriptional activation of various Gsc target genes crucial for craniofacial development. Consistenly, neural crest-specific Cdh1-knockout mice display similar bone malformation as Wwp2-deficient mice in the craniofacial region, characterized by a domed skull, a short snout and a twisted nasal bone. Mechanistically, like Wwp2-deficient mice, mice with Cdh1 deficiency in neural crest cells exhibit reduced Gsc/Sox6 transcriptional activities. Simultaneous deletion of Cdh1 and Wwp2 results in a more severe craniofacial defect compared with single gene deletion, suggesting a synergistic augmentation of Gsc activity by these two E3 ubiquitin ligases. Hence, our study reveals a novel role for Cdh1 in craniofacial development through promoting APC-dependent non-proteolytic ubiquitination and activation of Gsc.

  11. The genetic basis of facial skeletal characteristics and its relation with orthodontics

    PubMed Central

    Cakan, Derya Germec; Ulkur, Feyza; Taner, Tulin (Uğur)

    2012-01-01

    Successful treatment of any orthodontic problem depends on an appropriate diagnosis of its etiology. It is well known that the genetics, as well as environmental factors, play an important role on the etiology of skeletal anomalies. Recent studies and advances in genetic sciences allowed the orthodontists to better understand the effects of genetics on the etiology of dentofacial characteristics and pathologies which in turn supported the effects of the genes in the development of dentofacial complex. In orthodontic practice, the genetic basis of a skeletal anomaly should also be considered during the diagnosis. Therefore orthodontic treatment plan should be chosen accordingly. However, further genetic studies are required to clearly determine all the specific genes leading to a particular skeletal variability caused by the polygenic nature of craniofacial traits. This article includes the current information on the association between orthodontics and genetics, an outline of the evidence based impact of heredity on dentofacial development as a review of the etiological factors of skeletal anomalies from the genetic point of view. PMID:22904665

  12. Orthopedic coordination of dentofacial development in skeletal Class II malocclusion in conjunction with edgewise therapy. Part I.

    PubMed

    Bass, N M

    1983-11-01

    The skeletal Class II malocclusion may be considered to develop as a failure of the coordinating process to maintain harmonious relationships within the developing dentofacial apparatus. If the skeletal elements are too far apart for adaptation to occur and/or if there are functional abnormalities of the orofacial musculature which inhibit coordination from taking place, a malocclusion will result. An orthopedic technique and appliance system has been developed with the intention of improving those factors responsible for the development and perpetuation of the skeletal Class II malocclusion in a primary stage of treatment. This is accomplished by means of restraint and redirection of forward maxillary growth and an increase in the velocity of mandibular growth. Concurrently, adverse soft-tissue influences are eliminated or ameliorated. Edgewise appliance therapy is subsequently carried out for the final correction. The subject is considered in two articles. This first article describes the effects of the restraint of maxillary growth on craniofacial development and the dental changes produced by a maxillary removable splint with extraoral traction and shows how they can be used clinically for correction of the skeletal Class II malocclusion. The experimental and clinical evidence supporting this approach is considered, and case histories show the clinical use of the maxillary splint. This form of maxillary therapy for the skeletal Class II malocclusion has limitations, and it is desirable for it to be incorporated into a comprehensive orthopedic system.

  13. 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

  14. Effects of hypodontia on craniofacial structures and mandibular growth pattern

    PubMed Central

    2011-01-01

    Introduction This study was performed to examine craniofacial structures in persons with hypodontia and to reveal any differences, that may occur, when agenetic teeth are only found in the maxilla, the mandible or in both jaws. The groups consistent of 50 children (33 girls, 17 boys) aged between 9 and 13.5 years were analyzed and assigned to three subgroups. Group 1 = upper jaw hypodontia. Group 2 = lower jaw hypodontia. Group 3 = hypodontia in both jaws. Materials and methods Eleven angular and three index measurements from lateral encephalographs and two linear measurements from dental blaster casts were calculated. All data was statistically analyzed, parameters with p < 5% were investigated for each subgroup respectively. Results In comparison with standards the study group showed bimaxillary retrognathism and a reduction of the lower anterior facial height. Moreover both overbite and overjet significantly increased. Other values laid within the normal ranges. Evaluating results of the subgroups, differences in the means of SNA, SNB and overjet between the groups were observed. Analysis of the mandibular growth pattern revealed, that neither vertical nor horizontal patterns are dominant in hypodontia patients. Conclusions In certain dentofacial parameters differences between persons with hypodontia and such with full dentition exist. According to our findings agenetic teeth may have a negative influence on the saggital development of a jaw and the lower face and may be responsible for increased overbites. This should receive attention in orthodontic treatment of hypodontia patients. PMID:22142280

  15. 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. PMID:26662189

  16. 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.

  17. [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.

  18. 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.

  19. 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

  20. 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

  1. Skeletal Effects of Smoking.

    PubMed

    Cusano, Natalie E

    2015-10-01

    Smoking is a leading cause of preventable death and disability. Smoking has long been identified as a risk factor for osteoporosis, with data showing that older smokers have decreased bone mineral density and increased fracture risk compared to nonsmokers, particularly at the hip. The increase in fracture risk in smokers is out of proportion to the effects on bone density, indicating deficits in bone quality. Advanced imaging techniques have demonstrated microarchitectural deterioration in smokers, particularly in the trabecular compartment. The mechanisms by which smoking affects skeletal health remain unclear, although multiple pathways have been proposed. Smoking cessation may at least partially reverse the adverse effects of smoking on the skeleton.

  2. Glucocorticoids and Skeletal Muscle.

    PubMed

    Bodine, Sue C; Furlow, J David

    2015-01-01

    Glucocorticoids are known to regulate protein metabolism in skeletal muscle, producing a catabolic effect that is opposite that of insulin. In many catabolic diseases, such as sepsis, starvation, and cancer cachexia, endogenous glucocorticoids are elevated contributing to the loss of muscle mass and function. Further, exogenous glucocorticoids are often given acutely and chronically to treat inflammatory conditions such as asthma, chronic obstructive pulmonary disease, and rheumatoid arthritis, resulting in muscle atrophy. This chapter will detail the nature of glucocorticoid-induced muscle atrophy and discuss the mechanisms thought to be responsible for the catabolic effects of glucocorticoids on muscle. PMID:26215994

  3. Skeletal Effects of Smoking.

    PubMed

    Cusano, Natalie E

    2015-10-01

    Smoking is a leading cause of preventable death and disability. Smoking has long been identified as a risk factor for osteoporosis, with data showing that older smokers have decreased bone mineral density and increased fracture risk compared to nonsmokers, particularly at the hip. The increase in fracture risk in smokers is out of proportion to the effects on bone density, indicating deficits in bone quality. Advanced imaging techniques have demonstrated microarchitectural deterioration in smokers, particularly in the trabecular compartment. The mechanisms by which smoking affects skeletal health remain unclear, although multiple pathways have been proposed. Smoking cessation may at least partially reverse the adverse effects of smoking on the skeleton. PMID:26205852

  4. 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

  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. 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.

  7. The Developmental Basis of Quantitative Craniofacial Variation in Humans and Mice.

    PubMed

    Martínez-Abadías, Neus; Mitteroecker, Philipp; Parsons, Trish E; Esparza, Mireia; Sjøvold, Torstein; Rolian, Campbell; Richtsmeier, Joan T; Hallgrímsson, Benedikt

    2012-12-01

    The human skull is a complex and highly integrated structure that has long held the fascination of anthropologists and evolutionary biologists. Recent studies of the genetics of craniofacial variation reveal a very complex and multifactorial picture. These findings contrast with older ideas that posit much simpler developmental bases for variation in cranial morphology such as the growth of the brain or the growth of the chondrocranium relative to the dermatocranium. Such processes have been shown to have major effects on cranial morphology in mice. It is not known, however, whether they are relevant to explaining normal phenotypic variation in humans. To answer this question, we obtained vectors of shape change from mutant mouse models in which the developmental basis for the craniofacial phenotype is known to varying degrees, and compared these to a homologous dataset constructed from human crania obtained from a single population with a known genealogy. Our results show that the shape vectors associated with perturbations to chondrocranial growth, brain growth, and body size in mice do largely correspond to axes of covariation in humans. This finding supports the view that the developmental basis for craniofacial variation funnels down to a relatively small number of key developmental processes that are similar across mice and humans. Understanding these processes and how they influence craniofacial shape provides fundamental insights into the developmental basis for evolutionary change in the human skull as well as the developmental-genetic basis for normal phenotypic variation in craniofacial form. PMID:23226904

  8. Application of three-dimensional computed tomography in craniofacial clinical practice and research.

    PubMed

    Anderson, P J; Yong, R; Surman, T L; Rajion, Z A; Ranjitkar, S

    2014-06-01

    Following the invention of the first computed tomography (CT) scanner in the early 1970s, many innovations in three-dimensional (3D) diagnostic imaging technology have occurred, leading to a wide range of applications in craniofacial clinical practice and research. Three-dimensional image analysis provides superior and more detailed information compared with conventional plain two-dimensional (2D) radiography, with the added benefit of 3D printing for preoperative treatment planning and regenerative therapy. Current state-of-the-art multidetector CT (MDCT), also known as medical CT, has an important role in the diagnosis and management of craniofacial injuries and pathology. Three-dimensional cone beam CT (CBCT), pioneered in the 1990s, is gaining increasing popularity in dental and craniofacial clinical practice because of its faster image acquisition at a lower radiation dose, but sound guidelines are needed to ensure its optimal clinical use. Recent innovations in micro-computed tomography (micro-CT) have revolutionized craniofacial biology research by enabling higher resolution scanning of teeth beyond the capabilities of MDCT and CBCT, presenting new prospects for translational clinical research. Even after four decades of refinement, CT technology continues to advance and broaden the horizons of craniofacial clinical practice and phenomics research. PMID:24611727

  9. 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.

  10. 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

    2016-01-01

    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

  11. Utilizing the chicken as an animal model for human craniofacial ciliopathies.

    PubMed

    Schock, Elizabeth N; Chang, Ching-Fang; Youngworth, Ingrid A; Davey, Megan G; Delany, Mary E; Brugmann, Samantha A

    2016-07-15

    The chicken has been a particularly useful model for the study of craniofacial development and disease for over a century due to their relatively large size, accessibility, and amenability for classical bead implantation and transplant experiments. Several naturally occurring mutant lines with craniofacial anomalies also exist and have been heavily utilized by developmental biologist for several decades. Two of the most well known lines, talpid(2) (ta(2)) and talpid(3) (ta(3)), represent the first spontaneous mutants to have the causative genes identified. Despite having distinct genetic causes, both mutants have recently been identified as ciliopathic. Excitingly, both of these mutants have been classified as models for human craniofacial ciliopathies: Oral-facial-digital syndrome (ta(2)) and Joubert syndrome (ta(3)). Herein, we review and compare these two models of craniofacial disease and highlight what they have revealed about the molecular and cellular etiology of ciliopathies. Furthermore, we outline how applying classical avian experiments and new technological advances (transgenics and genome editing) with naturally occurring avian mutants can add a tremendous amount to what we currently know about craniofacial ciliopathies. PMID:26597494

  12. 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

  13. 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

  14. Duplicated zebrafish co-orthologs of parathyroid hormone-related peptide (PTHrP, Pthlh) play different roles in craniofacial skeletogenesis

    PubMed Central

    Yan, Yi-Lin; Bhattacharya, Poulomi; He, Xin Jun; Ponugoti, Bhaskar; Marquardt, Ben; Layman, Jason; Grunloh, Melissa; Postlethwait, John H.; Rubin, David A.

    2013-01-01

    In mammals, parathyroid hormone-related peptide (PTHrP, alias PTH-like hormone (Pthlh)) acts as a paracrine hormone that regulates the patterning of cartilage, bone, teeth, pancreas, and thymus. Beyond mammals, however, little is known about the molecular genetic mechanisms by which Pthlh regulates early development. To evaluate conserved pathways of craniofacial skeletogenesis, we isolated two Pthlh co-orthologs from the zebrafish (Danio rerio) and investigated their structural, phylogenetic, and syntenic relationships, expression, and function. Results showed that pthlh duplicates originated in the teleost genome duplication. Zebrafish pthlha and pthlhb were maternally expressed and showed overlapping and distinct zygotic expression patterns during skeletal development that mirrored mammalian expression domains. To explore the regulation of duplicated pthlh genes, we studied their expression patterns in mutants and found that both sox9a and sox9b are upstream of pthlha in arch and fin bud cartilages, but only sox9b is upstream of pthlha in the pancreas. Morpholino antisense knockdown showed that pthlha regulates both sox9a and sox9b in the pharyngeal arches but not in the brain or otic vesicles and that pthlhb does not regulate either sox9 gene, which is likely related to its highly degraded nuclear localization signal. Knockdown of pthlha but not pthlhb caused runx2b overexpression in craniofacial cartilages and premature bone mineralization. We conclude that in normal cartilage development, sox9 upregulates pthlh, which downregulates runx2, and that the duplicated nature of all three of these genes in zebrafish creates a network of regulation by different co-orthologs in different tissues. PMID:22761277

  15. Modularity of the oral jaws is linked to repeated changes in the craniofacial shape of african cichlids.

    PubMed

    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.

  16. 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

  17. 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.

  18. An Interesting Case of Penetrating Craniofacial Trauma Involving a Wooden Stick

    PubMed Central

    Kulkarni, Ambadas; Chandrasala, Soumithran; Vishnudas, Praveesh; Dev, Arul

    2016-01-01

    Penetrating craniofacial trauma, although uncommon, has a high potential for death or catastrophic consequences from head injury or vital neurovascular injuries. The foreign body may cause significant challenge, especially when it is a large one. Airway obstruction, vascular injuries, intracranial communication, ocular injury and injuries to any other adjacent vital structures when involved may change the treatment objectives from simple foreign body retrieval to a comprehensive multidisciplinary approach to stabilize the patient. Retrieval of foreign bodies may be challenging because of many factors including the size of the object, its site, and the surrounding anatomical structures. Accurate localization of the foreign body before removal is essential in craniofacial region. We present a case of penetrating craniofacial trauma from a wooden stick, with an in situ foreign body, that was managed by emergency surgical exploration in general anaesthesia and retrieval of foreign body in Toto under antibiotic coverage and tetanus prophylaxis. PMID:27190963

  19. Scientific research in Latin America: experiences of collaborative projects on craniofacial anomalies.

    PubMed

    Trindade, Inge Elly Kiemle

    2006-11-01

    Scientists based in Latin America, particularly in Argentina, Brazil, Chile, and Mexico, substantially increased their rate of scientific publications during the past decades. Brazil experienced the most growth with the implementation of an efficient postgraduate system that is tripling the number of doctors every 10 years. Research on craniofacial anomalies is similarly increasing in Latin American countries. A PUBMED search using the key word "cleft" and a particular country's name showed that Brazil has published the most articles in that field during the past few years, many of which were published by research groups linked to the Hospital for Rehabilitation of Craniofacial Anomalies located in Bauru, which provides cleft and craniofacial care for more than 2500 new patients every year. Based on experiences with international collaboration, this report discusses obstacles to collaborative research and presents recommendations to enhance the possibility of creating successful partnerships among international research teams. PMID:17105326

  20. 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

  1. 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

  2. 3D CT Imaging for Craniofacial Analysis Based on Anatomical Regions.

    PubMed

    Wan Harun, W A R; Ahmad Rajion, Zainul; Abdul Aziz, Izhar; Rani Samsudin, Abdul

    2005-01-01

    The development of a craniofacial database is a multidisciplinary initiative that will provide an important reference for community, security, social and medical applications. A method of landmark identifications and measurements in 3d on craniofacial patients is described. anatomical regions such as mandible, orbits, zygoma and maxilla are located, created and stored as templates of 3D CAD files for subsequent analysis. Data from these images were tested for accuracy and repeatability by comparing with direct measurements using caliper and CMM. The landmark points are reproducible in CAD system for further analysis. it was found that the approach provides a fast, accurate and efficient method for landmarks identification of the craniofacial areas in database development. PMID:17282309

  3. 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

  4. 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

  5. Craniofacial injuries in professional cricket: no more a red herring.

    PubMed

    Tripathi, Manjul; Shukla, Dhaval P; Bhat, Dhananjaya Ishwar; Bhagavatula, Indira Devi; Mishra, Tejesh

    2016-04-01

    The issue of head injury in a noncontact sport like cricket is a matter of great debate and it carries more questions than answers. Recent incidents of fatal head injuries in individuals wearing a helmet have caused some to question the protective value of the helmet. The authors discuss the pattern, type of injury, incidents, and location of cranio-facio-ocular injuries in professional cricket to date. They evaluate the history of usage of the helmet in cricket, changes in design, and the protective value, and they compare the efficacy of various sports' helmets with injury profiles similar to those in cricket. The drop test and air cannon test are compared for impact energy attenuation performance of cricket helmets. A total of 36 cases of head injuries were identified, of which 5 (14%) were fatal and 9 (22%) were career-terminating events. Batsmen are the most vulnerable to injury, bearing 86% of the burden, followed by wicketkeepers (8%) and fielders (5.5%). In 53% of cases, the ball directly hit the head, while in 19.5% of cases the ball entered the gap between the peak and the faceguard. Ocular injuries to 3 wicketkeepers proved to be career-terminating injuries. The air cannon test is a better test for evaluating cricket helmets than the drop test. Craniofacial injuries are more common than popularly believed. There is an urgent need to improve the efficacy and compliance of protective restraints in cricket. A strict injury surveillance system with universal acceptance is needed to identify the burden of injuries and modes for their prevention. PMID:27032914

  6. Craniofacial Sutures: Morphology, Growth, and In Vivo Masticatory Strains

    PubMed Central

    RAFFERTY, KATHERINE L.; HERRING, SUSAN W.

    2010-01-01

    The growth and morphology of craniofacial sutures are thought to reflect their functional environment. However, little is known about in vivo sutural mechanics. The present study investigates the strains experienced by the internasal, nasofrontal, and anterior interfrontal sutures during masticatory activity in 4–6-month-old miniature swine (Sus scrofa). Measurements of the bony/fibrous arrangements and growth rates of these sutures were then examined in the context of their mechanical environment. Large tensile strains were measured in the interfrontal suture (1,036 με ± 400 SD), whereas the posterior internasal suture was under moderate compression (−440 με ± 238) and the nasofrontal suture experienced large compression (−1,583 με ± 506). Sutural interdigitation was associated with compressive strain. The collagen fibers of the internasal and interfrontal sutures were clearly arranged to resist compression and tension, respectively, whereas those of the nasofrontal suture could not be readily characterized as either compression or tension resisting. The average linear rate of growth over a 1-week period at the nasofrontal suture (133.8 μm, ± 50.9 S.D) was significantly greater than that of both the internasal and interfrontal sutures (39.2 μm ± 11.4 and 65.5 μm ± 14.0, respectively). Histological observations suggest that the nasofrontal suture contains chondroid tissue, which may explain the unexpected combination of high compressive loading and rapid growth in this suture. PMID:10521876

  7. 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

  8. Histone Deacetylases in Bone Development and Skeletal Disorders.

    PubMed

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

    2015-10-01

    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 Zn(2+) 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

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

    PubMed

    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 (Mg(2+)) is the fourth most common cation in the human body, and has a crucial role in many physiological functions. Mg(2+) 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 Mg(2+) 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 Trpm7 (Δkinase∕+) mice. A previously generated heterozygous mouse model with the deletion of the TRPM7 kinase domain. Interestingly, the skeletal phenotype of Trpm7 (Δkinase∕+) 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 Trpm7 (Δkinase∕+) mice remained at the similar level as that in wt mice, ALPase activities in the Trpm7 (Δkinase∕+) mice were almost nonexistent. Supplemented magnesium successfully rescued the activities of ALPase in ameloblasts, odontoblasts and osteoblasts of Trpm7 (Δkinase∕+) mice. These results suggested that TRPM7 is essential for mineralization of enamel as well as dentin and bone by providing

  10. 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

  11. 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.

  12. A Rare Case of Craniofacial Morphology with Absent Face and Neck Structures, with Its Review

    PubMed Central

    Prasanna, Lokadolalu Chandracharya; Bhat, Kumar M.R.; D’Souza, Antony Sylvan

    2013-01-01

    The development of the head and the face requires an intimate interaction between two mesenchymal populations, a paraxial mesoderm and neural crest cells for the morphogenesis of the musculoskeletal components of the calvaria, the face and the branchial regions. The disruptions in these interactions can cause foetal fatalities or congenital craniofacial anomalies. We are describing a rarest case with a craniofacial malformation, who was born with complete absence of the facial skeleton and the neck structures, a set of well developed ears in their normal locations and eyelids at the junction between the head and the thorax. PMID:23814746

  13. Disorders of Sex Development: Lessons to be Learned from Studies of Spina Bifida and Craniofacial Conditions.

    PubMed

    Holmbeck, G N; Aspinall, C L

    2015-05-01

    The purpose of this review is to discuss research methods and clinical management strategies employed with other conditions (i. e., spina bifida and craniofacial conditions) and how these methods and strategies could be applied to youth with disorders of sex development (DSD). The review focuses specifically on the potential overlap between DSD and these other conditions across the following 3 areas: (1) developmentally-oriented theories that underlie the research base for chronic physical conditions; (2) research designs and methodological features that have proved fruitful in these areas; and (3) the potential applicability to DSD of clinical management practices for youth with craniofacial conditions.

  14. 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

  15. Pediatric aspects of skeletal dysplasia.

    PubMed

    Ozono, Keiichi; Namba, Noriyuki; Kubota, Takuo; Kitaoka, Taichi; Miura, Kohji; Ohata, Yasuhisa; Fujiwara, Makoto; Miyoshi, Yoko; Michigami, Toshimi

    2012-10-01

    Skeletal dysplasia is a disorder of skeletal development characterized by abnormality in shape, length, a number and mineral density of the bone. Skeletal dysplasia is often associated with manifestation of other organs such as lung, brain and sensory systems. Skeletal dysplasias or dysostosis are classified with more than 400 different names. Enchondral bone formation is a coordinated event of chondrocyte proliferation, differentiation and exchange of terminally maturated chondrocyte with bone. Impaired enchondral bone formation will lead to skeletal dysplasia, especially associated with short long bones. Appropriate bone volume and mineral density are achieved by balance of bone formation and bone resorption and mineralization. The gene encoding fibroblast growth factor receptor 3 is responsible for achondroplasia, representative skeletal dysplasia with short stature. The treatment with growth hormone is approved for achondroplasia in Japan. Osteogenesis imperfecta is characterized by low bone mineral density and fragile bone. Data on the beneficial effect of bisphosphonate for osteogenesis imperfecta are accumulating. Osteopetrosis has high bone mineral density, but sometimes show bone fragility. In Japan as well as other countries, pediatrician treat larger numbers of patients with skeletal dysplasia with short stature and fragile bones compared to 20 years ago.

  16. Skeletal and occlusal characteristics in mouth-breathing pre-school children.

    PubMed

    Mattar, Sara Elisa M; Anselmo-Lima, Wilma T; Valera, Fabiana C P; Matsumoto, Mirian A N

    2004-01-01

    This study verified the influence of chronic mouth breathing on dentofacial growth and developmental in pre-school children. The study evaluated 73 children, both sexes, ranging from 3 to 6 years of age. After the otorhinolaryngological breathing diagnosis, 44 mouth-breathing children and 29 nasal-breathing children were compared according to facial and occlusal characteristics. The skeletal pattern measurements SN.GoGn, BaN.PtGn, PP.PM, Ar-Go, S-Go indicated a tendency to mouth-breathing children presenting a dolicofacial pattern. According to occlusal characteristics, only the intermolar distance showed a significant correlation with a narrow maxillary arch in mouth-breathing subjects. Based on the results of this study, mouth-breathing can influence craniofacial and occlusal development early in childhood.

  17. Effect of cleft lip palate repair on craniofacial growth

    PubMed Central

    Naqvi, Zuber Ahamed; Shivalinga, BM; Ravi, S; Munawwar, Syeda Sarah

    2015-01-01

    Objective: The aim of this cross-sectional study was to compare craniofacial growth among operated and unoperated unilateral cleft lip and palate non-syndromic subjects. Materials and Methods: A sample of 180 subjects of Indian origin was selected. Of them, 90 were operated, and 90 were unoperated complete unilateral cleft lip and palate individuals. The subjects were divided into three age groups of 3–5, 8–10, and 20–25 years comprised of 30 patients in each group. The following measurements were evaluated: Angle and length of the cranial base; maxillary spatial positioning and length; mandibular spatial positioning; morphology and length; maxillomandibular relationship. Comparative analysis of the means between the groups was performed with Student's t-test at the significance levels of 5%. The ANOVA test has been performed to test the effect of time. Results: No significant differences were observed between the measurements that represented the angle and length of the cranial base of unoperated and the operated patients (P>0.05). There was statistically significant decrease (P˂0.05) in the maxillary length (Co-A; 69.00 mm in 3–5 years, 68.33 mm in 8–10 years, and 67.17 mm in 20–25 years age group), and SNA angle (74.83° in 3–5 years, 74.17 ° in 8–10 years and 73.17 ° in 20–25 years age group) in operated group. No significant difference noticed on cephalometric values of the mandible, except Ar-Go-Me angle (P˂0.05), which showed vertical growth pattern in unoperated patients (132.50 ° in 3–5 years, 132.00 ° I 8–10 years and 138.33 ° in 20–25 years age group). Conclusion: Lip and palate repair has a significant influence on the maxilla and resulting in retarded growth of maxilla, which causes midface deficiency beyond acceptable sagittal limits. The Gonial angle showed vertical growth pattern in unoperated patients, but the cranial base angle and length of unoperated and the operated patients were similar. PMID:26229945

  18. Scaling relationships between craniofacial sexual dimorphism and body mass dimorphism in primates: implications for the fossil record.

    PubMed

    Plavcan, J Michael

    2003-01-01

    Craniofacial remains (the most abundant identifiable remains in the fossil record) potentially offer important information about body size dimorphism in extinct species. This study evaluates the scaling relationships between body mass dimorphism and different measures of craniofacial dimorphism, evaluating taxonomic differences in the magnitude and scaling of craniofacial dimorphism across higher taxonomic groups. Data on 40 dimensions from 129 primate species and subspecies demonstrate that few dimensions change proportionally with body mass dimorphism. Primates show general patterns of greater facial vs. neurocranial and orbital dimorphism, and greater dimorphism in lengths as opposed to breadths. Within any species, though, different craniofacial dimensions can yield very different reconstructions of size dimorphism. There are significant taxonomic differences in the relationships between size and craniofacial dimorphism among primate groups that can have a significant impact on reconstructions of body mass dimorphism. Hominoids tend to show lower degrees of facial dimorphism proportional to size dimorphism than other primates. This in turn implies that strong craniofacial dimorphism in Australopithecus africanus could imply very strong body size dimorphism, conflicting with the relatively modest size dimorphism inferred from postcrania. Different methods of estimating the magnitude of size dimorphism from craniofacial measurements yield similar results, and yield comparatively low percent prediction errors for a number of dimensions. However, confidence intervals for most estimates are so large as to render most estimates highly tentative.

  19. A genome-wide linkage scan for quantitative trait loci influencing the craniofacial complex in humans(Homo sapiens sapiens)

    PubMed Central

    Sherwood, Richard J.; Duren, Dana L.; Mahaney, Michael C.; Blangero, John; Dyer, Thomas D.; Cole, Shelley A.; Czerwinski, Stefan A.; Chumlea, Wm. Cameron; Siervogel, Roger M.; Choh, Audrey C.; Nahhas, Ramzi W.; Lee, Miryoung; Towne, Bradford

    2011-01-01

    The genetic architecture of the craniofacial complex has been the subject of intense scrutiny because of the high frequency of congenital malformations. Numerous animal models have been used to document the early development of the craniofacial complex, but few studies have focused directly on the genetic underpinnings of normal variation in the human craniofacial complex. The current study examines 80 quantitative traits derived from lateral cephalographs of 981 participants in the Fels Longitudinal Study, Wright State University, Dayton, Ohio. Quantitative genetic analyses were conducted using the SOLAR analytic platform, a maximum-likelihood variance components method that incorporates all familial information for parameter estimation. Heritability estimates were significant and of moderate to high magnitude for all craniofacial traits. Additionally, significant quantitative trait loci (QTL) were identified for 10 traits from the three developmental components (basicranium, splanchnocranium, and neurocranium) of the craniofacial complex. These QTL were found on chromosomes 3, 6, 11, 12, and 14. This study of the genetic architecture of the craniofacial complex elucidates fundamental information of the genetic architecture of the craniofacial complex in humans. PMID:21328561

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

    PubMed

    Lei, Run; Zhang, Ke; 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

  1. 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

  2. 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

  3. Prenatal ontogeny of subspecific variation in the craniofacial morphology of the Japanese macaque (Macaca fuscata).

    PubMed

    Yano, Wataru; Egi, Naoko; Takano, Tomo; Ogihara, Naomichi

    2010-07-01

    We cross-sectionally investigated prenatal ontogeny of craniofacial shape in the two subspecies of the Japanese macaque (Macaca fuscata fuscata and Macaca fuscata yakui) using a geometric morphometric technique to explore the process of morphogenetic divergence leading to the adult morphological difference between the subspecies. The sample comprised a total of 32 formalin-fixed fetal specimens of the two subspecies, in approximately the second and third trimesters. Each fetal cranium was scanned using computed tomography to generate a three-dimensional surface model, and 68 landmarks were digitized on the external and internal surface of each cranium to trace the growth-related changes in craniofacial shape of the two subspecies. The results of our study demonstrated that the two subspecies generally shared the same craniofacial growth pattern. Both crania tend to exhibit relative contraction of the neurocranium in the mediolateral and superoinferior directions, a more superiorly positioned cranial base, a more vertically oriented occipital squama, and a more anteriorly positioned viscerocranium as the cranial size increased. However, distinctive subspecific differences, for example relatively narrower orbital breadth, higher orbit, higher position of the nuchal crest, and more protrudent snout found in Macaca fuscata yakui were already present during the prenatal period. This study demonstrated that morphological differentiation in the craniofacial shape may occur at a very early stage of the fetal period even between closely related subspecies of the Japanese macaque.

  4. Bilateral lambdoid and sagittal synostosis (BLSS): a unique craniosynostosis syndrome or predictable craniofacial phenotype?

    PubMed

    Hing, Anne V; Click, Eleanor S; Holder, Ursula; Seto, Marianne L; Vessey, Kyle; Gruss, Joseph; Hopper, Richard; Cunningham, Michael L

    2009-05-01

    Multisutural craniosynostosis that includes bilateral lambdoid and sagittal synostosis (BLSS) results in a very characteristic head shape with frontal bossing, turribrachycephaly, biparietal narrowing, occipital concavity, and inferior displacement of the ears. This entity has been reported both in the genetics literature as craniofacial dyssynostosis and in the surgical literature as "Mercedes Benz" syndrome. Craniofacial dyssynostosis was first described in 1976 by Dr. Neuhauser when he presented a series of seven patients with synostosis of the sagittal and lambdoid sutures, short stature, and developmental delay. Over the past 30 years nine additional patients with craniofacial dyssynostosis have been reported in the literature adding to the growing evidence for a distinct craniosynostosis syndrome. The term "Mercedes Benz" syndrome was coined by Moore et al. in 1998 due to the characteristic appearance of the fused sutures on three-dimensional CT imaging. In contrast to the aforementioned reported cases of craniofacial dyssynostosis, all three patients had normal development. Recently, there have been several case reports of patients with BLSS and distinct chromosomal anomalies. These findings suggest that BLSS is a heterogeneous disorder perhaps with syndromic, chromosomal, and isolated forms. In this manuscript we will present the largest series of patients with BLSS and review clinical, CT, and molecular findings.

  5. 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.

  6. 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

  7. A role of glypican4 and wnt5b in chondrocyte stacking underlying craniofacial cartilage morphogenesis

    PubMed Central

    Sisson, Barbara E.; Dale, Rodney M.; Mui, Stephanie R.; Topczewska, Jolanta M.

    2015-01-01

    The Wnt/Planar Cell Polarity (PCP) pathway controls cell morphology and behavior during animal development. Several zebrafish mutants were identified as having perturbed Wnt/PCP signaling. Many of these mutants have defects in craniofacial formation. To better understand the role that Wnt/PCP plays in craniofacial development we set out to identify which of the mutants, known to be associated with the Wnt/PCP pathway, perturb head cartilage formation by disrupting chondrocyte morphology. Here we demonstrate that while vang-like 2 (vangl2), wnt11 and scribbled (scrib) mutants have severe craniofacial morphogenesis defects they do not display the chondrocyte stacking and intercalation problems seen in glypican 4 (gpc4) and wnt5b mutants. The function of Gpc4 or Wnt5b appears to be important for chondrocyte organization, as the neural crest in both mutants is specified, undergoes migration, and differentiates into the same number of cells to compose the craniofacial cartilage elements. We demonstrate that Gpc4 activity is required cell autonomously in the chondrocytes and that the phenotype of single heterozygous mutants is slightly enhanced in embryos double heterozygous for wnt5b and gpc4. This data suggests a novel mechanism for Wnt5b and Gpc4 regulation of chondrocyte behavior that is independent of the core Wnt/PCP molecules and differs from their collaborative action of controlling cell movements during gastrulation. PMID:26459057

  8. 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. PMID:27287806

  9. 77 FR 50140 - National Institute of Dental & Craniofacial Research; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-08-20

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Institute of Dental & Craniofacial Research; Notice of Closed Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act, as amended (5...

  10. 78 FR 65345 - National Institute of Dental & Craniofacial Research; Amended Notice of Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-10-31

    ... the Federal Register on August 19, 2013, 78 FR 50426. Meeting date has changed from October 17-18... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Institute of Dental & Craniofacial...

  11. 78 FR 50426 - National Institute of Dental & Craniofacial Research; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-08-19

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Institute of Dental & Craniofacial Research; Notice of Closed Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act, as amended (5...

  12. 76 FR 79199 - National Institute of Dental & Craniofacial Research; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-12-21

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Institute of Dental & Craniofacial Research; Notice of Closed Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act, as amended (5...

  13. 77 FR 29673 - National Institute of Dental & Craniofacial Research; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-05-18

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Institute of Dental & Craniofacial Research; Notice of Closed Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act, as amended (5...

  14. 76 FR 57748 - National Institute of Dental & Craniofacial Research Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-09-16

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Institute of Dental & Craniofacial Research Notice of Closed Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act, as amended (5...

  15. Estrogen receptor gene polymorphism and craniofacial morphology in female TMJ osteoarthritis patients.

    PubMed

    Lee, D-G; Kim, T-W; Kang, S-C; Kim, S T

    2006-02-01

    The aim of this study was to investigate the possible influence of estrogen receptor alpha (ERalpha) polymorphism on the craniofacial skeleton in female patients suffering from symptomatic osteoarthritis (OA) of the temporomandibular joint (TMJ). The sample comprised 76 genetically unrelated Korean women diagnosed with OA by research diagnostic criteria for temporomandibular disorders (RDC-TMD). Direct haplotyping procedure was used to analyze the PvuII and XbaI RFLPs. Twelve cephalometric measurements were taken to evaluate the spatial position and dimensions of the mandible. Mann-Whitney's U-test was used to identify the potential differences in the cephalometric measurements between the subjects grouped according to their carrier status for Px haplotype. In addition, an association study was carried out using chi(2)-test to further examine the relationship between Px haplotype and the craniofacial morphology of the symptomatic OA patients. Female symptomatic TMJ OA patients carrying Px haplotype showed significantly smaller facial axis angle (P<0.05) and mandibular body length (P<0.05) than the non-carriers. The association between the presence of Px haplotype and short mandibular body length was also ascertained. This study suggests that ERa polymorphism contributes to the altered mandibular dimensions in female symptomatic TMJ OA patients. Further studies on the role of the genetic markers relevant to the craniofacial growth and adaptation are expected to broaden our understanding of determinants of the craniofacial morphology. PMID:16154319

  16. Regulating Craniofacial Development at the 3' End: MicroRNAs and Their Function in Facial Morphogenesis.

    PubMed

    Tavares, Andre L P; Artinger, Kristin B; Clouthier, David E

    2015-01-01

    Defects in craniofacial development represent a majority of observed human birth defects, occurring at a rate as high as 1:800 live births. These defects often occur due to changes in neural crest cell (NCC) patterning and development and can affect non-NCC-derived structures due to interactions between NCCs and the surrounding cell types. Proper craniofacial development requires an intricate array of gene expression networks that are tightly controlled spatiotemporally by a number of regulatory mechanisms. One of these mechanisms involves the action of microRNAs (miRNAs), a class of noncoding RNAs that repress gene expression by binding to miRNA recognition sequences typically located in the 3' UTR of target mRNAs. Recent evidence illustrates that miRNAs are crucial for vertebrate facial morphogenesis, with changes in miRNA expression leading to facial birth defects, including some in complex human syndromes such as 22q11 (DiGeorge Syndrome). In this review, we highlight the current understanding of miRNA biogenesis, the roles of miRNAs in overall craniofacial development, the impact that loss of miRNAs has on normal development and the requirement for miRNAs in the development of specific craniofacial structures, including teeth. From these studies, it is clear that miRNAs are essential for normal facial development and morphogenesis, and a potential key in establishing new paradigms for repair and regeneration of facial defects. PMID:26589932

  17. Bilateral lambdoid and sagittal synostosis (BLSS): a unique craniosynostosis syndrome or predictable craniofacial phenotype?

    PubMed

    Hing, Anne V; Click, Eleanor S; Holder, Ursula; Seto, Marianne L; Vessey, Kyle; Gruss, Joseph; Hopper, Richard; Cunningham, Michael L

    2009-05-01

    Multisutural craniosynostosis that includes bilateral lambdoid and sagittal synostosis (BLSS) results in a very characteristic head shape with frontal bossing, turribrachycephaly, biparietal narrowing, occipital concavity, and inferior displacement of the ears. This entity has been reported both in the genetics literature as craniofacial dyssynostosis and in the surgical literature as "Mercedes Benz" syndrome. Craniofacial dyssynostosis was first described in 1976 by Dr. Neuhauser when he presented a series of seven patients with synostosis of the sagittal and lambdoid sutures, short stature, and developmental delay. Over the past 30 years nine additional patients with craniofacial dyssynostosis have been reported in the literature adding to the growing evidence for a distinct craniosynostosis syndrome. The term "Mercedes Benz" syndrome was coined by Moore et al. in 1998 due to the characteristic appearance of the fused sutures on three-dimensional CT imaging. In contrast to the aforementioned reported cases of craniofacial dyssynostosis, all three patients had normal development. Recently, there have been several case reports of patients with BLSS and distinct chromosomal anomalies. These findings suggest that BLSS is a heterogeneous disorder perhaps with syndromic, chromosomal, and isolated forms. In this manuscript we will present the largest series of patients with BLSS and review clinical, CT, and molecular findings. PMID:19396832

  18. [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.

  19. 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. PMID:26232829

  20. 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.

  1. Speech therapy where there are no speech therapists: the task force for the american cleft palate-craniofacial association.

    PubMed

    Scherer, Nancy J

    2014-11-01

    This paper describes the outcome of the 2013 American Cleft Palate-Craniofacial Association Task Force entitled "Speech Therapy Where There Are No Speech Therapists." The membership and goals of the initial task force are presented. Survey methods, communication of the members, and meeting discussion of the task force at the 12th International Congress for Craniofacial Anomalies in Orlando, Florida, in May 2013 are described. Conclusions of the task force and recommendations for the future comprised four areas: organization and communication, protocols, service delivery models, and development of training programs/modules in speech-language pathology for craniofacial conditions.

  2. 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

  3. 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

  4. 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.

  5. 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

  6. 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

  7. 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.

  8. 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

  9. Latest Research from NIH's National Institute of Dental and Craniofacial Research | NIH MedlinePlus the Magazine

    MedlinePlus

    ... NIDCR conduct research on the full spectrum of topics related to oral health, including oral cancer, chronic pain conditions, salivary gland function and dysfunction, craniofacial development and disorders, biomaterials, and ...

  10. Skeletal muscle involvement in cardiomyopathies.

    PubMed

    Limongelli, Giuseppe; D'Alessandro, Raffaella; Maddaloni, Valeria; Rea, Alessandra; Sarkozy, Anna; McKenna, William J

    2013-12-01

    The link between heart and skeletal muscle disorders is based on similar molecular, anatomical and clinical features, which are shared by the 'primary' cardiomyopathies and 'primary' neuromuscular disorders. There are, however, some peculiarities that are typical of cardiac and skeletal muscle disorders. Skeletal muscle weakness presenting at any age may indicate a primary neuromuscular disorder (associated with creatine kinase elevation as in dystrophinopathies), a mitochondrial disease (particularly if encephalopathy, ocular myopathy, retinitis, neurosensorineural deafness, lactic acidosis are present), a storage disorder (progressive exercise intolerance, cognitive impairment and retinitis pigmentosa, as in Danon disease), or metabolic disorders (hypoglycaemia, metabolic acidosis, hyperammonaemia or other specific biochemical abnormalities). In such patients, skeletal muscle weakness usually precedes the cardiomyopathy and dominates the clinical picture. Nevertheless, skeletal involvement may be subtle, and the first clinical manifestation of a neuromuscular disorder may be the occurrence of heart failure, conduction disorders or ventricular arrhythmias due to cardiomyopathy. ECG and echocardiogram, and eventually, a more detailed cardiovascular evaluation may be required to identify early cardiac involvement. Paediatric and adult cardiologists should be proactive in screening for neuromuscular and related disorders to enable diagnosis in probands and evaluation of families with a focus on the identification of those at risk of cardiac arrhythmia and emboli who may require specific prophylactic treatments, for example, pacemaker, implantable cardioverter-defibrillator and anticoagulation. PMID:24149064

  11. Evolution of the Vertebrate Cranium: Viewed from Hagfish Developmental Studies.

    PubMed

    Kuratani, Shigeru; Oisi, Yasuhiro; Ota, Kinya G

    2016-06-01

    Our knowledge of vertebrate cranium evolution has relied largely on the study of gnathostomes. Recent evolutionary and developmental studies of cyclostomes have shed new light on the history of the vertebrate skull. The recent ability to obtain embryos of the hagfish, Eptatretus burgeri, has enabled new studies which have suggested an embryonic morphological pattern (the "cyclostome pattern") of craniofacial development. This pattern is shared by cyclostomes, but not by modern jawed vertebrates. Because this pattern of embryonic head development is thought to be present in some stem gnathostomes (ostracoderms), it is possible that the cyclostome pattern represents the vertebrate ancestral pattern. The study of cyclostomes may thus lead to an understanding of the most ancestral basis of craniofacial development. In this review, we summarize the development of the hagfish chondrocranium in light of the cyclostome pattern, present an updated comparison of the cyclostome chondrocranium, and discuss several aspects of the evolution and development of the vertebrate skull. PMID:27268976

  12. 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

  13. Proboscis lateralis: a rare craniofacial anomaly, reconstruction, and long-term evaluation.

    PubMed

    David, Lisa R; Sanger, Claire; Fisher, David; Argenta, Louis C

    2008-07-01

    Proboscis lateralis is a rare spontaneous congenital anomaly that results from a failure of normal embryological nasal development. The ensuing deformity consists of imbrication of the nasal soft tissues into a tubelike proboscis and can be associated with ipsilateral heminasal aplasia, choanal atresia, and multiple other abnormalities. A case report of a patient with proboscis lateralis is presented, with a 27-year follow-up detailing the complexities of long-term surgical management. After 15 major surgical interventions, there is relatively normal facial symmetry, but abnormalities remain with the underlying craniofacial skeleton and nasopharyngeal airway. Proboscis lateralis is not an isolated soft tissue abnormality but is a craniofacial defect that requires a long-term multidisciplinary approach to the surgical timing and treatment with lifelong follow-up. PMID:18650742

  14. Transferrin receptor facilitates TGF-β and BMP signaling activation to control craniofacial morphogenesis.

    PubMed

    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

  15. Pediatric craniofacial surgery for craniosynostosis: Our experience and current concepts: Part -1

    PubMed Central

    Anantheswar, Y. N.; Venkataramana, N. K.

    2009-01-01

    Craniostenosis is a disease characterized by untimely fusion of cranial sutures resulting in a variety of craniofacial deformities and neurological sequelae due to alteration in cranial volume and restriction of brain growth. This involves vault sutures predominantly, but cranial base is not immune. Association with a variety of syndromes makes the management decision complex. These children need careful evaluation by multiple specialists to have strategic treatment options. Parental counseling is an important and integral part of the treatment. Recent advancements in the surgical techniques and concept of team approach have significantly enhanced the safety and outcome of these children. We had an opportunity of treating 57 children with craniostenosis in the last 15 years at our craniofacial service. Out of them, 40 were nonsyndromic and 17 were syndromic variety. We describe our successful results along with individualized operative technical modifications adopted based on the current understanding of the disease. PMID:21887189

  16. Hand1 phosphoregulation within the distal arch neural crest is essential for craniofacial morphogenesis.

    PubMed

    Firulli, Beth A; Fuchs, Robyn K; Vincentz, Joshua W; Clouthier, David E; Firulli, Anthony B

    2014-08-01

    In this study we examine the consequences of altering Hand1 phosphoregulation in the developing neural crest cells (NCCs) of mice. Whereas Hand1 deletion in NCCs reveals a nonessential role for Hand1 in craniofacial development and embryonic survival, altering Hand1 phosphoregulation, and consequently Hand1 dimerization affinities, in NCCs results in severe mid-facial clefting and neonatal death. Hand1 phosphorylation mutants exhibit a non-cell-autonomous increase in pharyngeal arch cell death accompanied by alterations in Fgf8 and Shh pathway expression. Together, our data indicate that the extreme distal pharyngeal arch expression domain of Hand1 defines a novel bHLH-dependent activity, and that disruption of established Hand1 dimer phosphoregulation within this domain disrupts normal craniofacial patterning.

  17. 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

  18. 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

  19. Craniofacial development: current concepts in the molecular basis of Treacher Collins syndrome.

    PubMed

    van Gijn, Daniel Richard; Tucker, Abigail S; Cobourne, Martyn T

    2013-07-01

    The human face and skull are an elegant example of the anatomical sophistication that results from the interplay between the molecular cascades and the tissue interactions that are necessary for the proper development of the craniofacial complex. When it fails to develop normally the consequences can have life-long implications for the biological, psychological, and aesthetic wellbeing of an affected person. Among the many syndromes that affect the region, understanding of the biology that underlies Treacher Collins syndrome has advanced in the last decade, particularly concerning the causative TCOF1 gene that encodes TREACLE protein, a serine/alanine-rich nucleolar phosphoprotein with an essential function during ribosome biogenesis in cranial neural crest cells. Abnormal growth and differentiation of these cells affect much of the craniofacial skeleton.

  20. Finite element method analysis of craniofacial morphology in unilateral cleft lip and palate prior to palatoplasty.

    PubMed

    Hammond, A B; Smahel, Z; Moss, M L

    1993-01-01

    The craniofacial morphology in unilateral cleft lip and palate (UCLP) prior to palatoplasty was analyzed with the finite element method (FEM). The study examined cross-sectional data sets of affected and control males aged 4.5 to 6.0 years from Czechoslovakia. The facial skeleton and cranial base were discretized into 26 two-dimensional, triangular finite elements. Cranial base morphology is altered in UCLP. The extensive nature of most craniofacial deformities means that almost any registration is likely to be distorted. The fundamental advantage of the FEM is that biological descriptions are not dependent upon the selected reference plane. The FEM localizes changes in form to discrete anatomical regions. Significant shape and size differences characterize UCLP prior to palatoplasty. Dramatic deformations associated with cheiloplasty are localized to the lips and maxillary alveolar process. Nasal deformation reflects loss of structural support for the nose.

  1. 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.

  2. Data analysis in craniofacial biology with special emphasis on longitudinal studies.

    PubMed

    Kowalski, C J

    1993-03-01

    Recommendations are made for strengthening data description and analysis in craniofacial biology. Special emphasis is placed on longitudinal data, and PC programs for accomplishing appropriate analyses in this context are described and made available to interested readers. Some more general recommendations are treated in less detail. These include the effective description of data using stem-and-leaf displays and/or boxplots, the use of decision-analytic methods in the management of patients with dentofacial deformities, and the valid application of certain statistical methods in single-subject studies. Finally, it is conjectured that computer-intensive methods such as randomization tests and jackknifing will play an increasingly prominent role in craniofacial research. PMID:8452829

  3. Hand1 phosphoregulation within the distal arch neural crest is essential for craniofacial morphogenesis

    PubMed Central

    Firulli, Beth A.; Fuchs, Robyn K.; Vincentz, Joshua W.; Clouthier, David E.; Firulli, Anthony B.

    2014-01-01

    In this study we examine the consequences of altering Hand1 phosphoregulation in the developing neural crest cells (NCCs) of mice. Whereas Hand1 deletion in NCCs reveals a nonessential role for Hand1 in craniofacial development and embryonic survival, altering Hand1 phosphoregulation, and consequently Hand1 dimerization affinities, in NCCs results in severe mid-facial clefting and neonatal death. Hand1 phosphorylation mutants exhibit a non-cell-autonomous increase in pharyngeal arch cell death accompanied by alterations in Fgf8 and Shh pathway expression. Together, our data indicate that the extreme distal pharyngeal arch expression domain of Hand1 defines a novel bHLH-dependent activity, and that disruption of established Hand1 dimer phosphoregulation within this domain disrupts normal craniofacial patterning. PMID:25053435

  4. Entpd5 is essential for skeletal mineralization and regulates phosphate homeostasis in zebrafish

    PubMed Central

    Huitema, Leonie F. A.; Apschner, Alexander; Logister, Ive; Spoorendonk, Kirsten M.; Bussmann, Jeroen; Hammond, Chrissy L.; Schulte-Merker, Stefan

    2012-01-01

    Bone mineralization is an essential step during the embryonic development of vertebrates, and bone serves vital functions in human physiology. To systematically identify unique gene functions essential for osteogenesis, we performed a forward genetic screen in zebrafish and isolated a mutant, no bone (nob), that does not form any mineralized bone. Positional cloning of nob identified the causative gene to encode ectonucleoside triphosphate/diphosphohydrolase 5 (entpd5); analysis of its expression pattern demonstrates that entpd5 is specifically expressed in osteoblasts. An additional mutant, dragonfish (dgf), exhibits ectopic mineralization in the craniofacial and axial skeleton and encodes a loss-of-function allele of ectonucleotide pyrophosphatase phosphodiesterase 1 (enpp1). Intriguingly, generation of double-mutant nob/dgf embryos restored skeletal mineralization in nob mutants, indicating that mechanistically, Entpd5 and Enpp1 act as reciprocal regulators of phosphate/pyrophosphate homeostasis in vivo. Consistent with this, entpd5 mutant embryos can be rescued by high levels of inorganic phosphate, and phosphate-regulating factors, such as fgf23 and npt2a, are significantly affected in entpd5 mutant embryos. Our study demonstrates that Entpd5 represents a previously unappreciated essential player in phosphate homeostasis and skeletal mineralization. PMID:23236130

  5. 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

  6. Skeletal stem cells in space and time.

    PubMed

    Kassem, Moustapha; Bianco, Paolo

    2015-01-15

    The nature, biological characteristics, and contribution to organ physiology of skeletal stem cells are not completely determined. Chan et al. and Worthley et al. demonstrate that a stem cell for skeletal tissues, and a system of more restricted, downstream progenitors, can be identified in mice and demonstrate its role in skeletal tissue maintenance and regeneration.

  7. 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

  8. 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

  9. Genomic factors that shape craniofacial outcome and neural crest vulnerability in FASD

    PubMed Central

    Smith, Susan M.; Garic, Ana; Berres, Mark E.; Flentke, George R.

    2014-01-01

    Prenatal alcohol exposure (PAE) causes distinctive facial characteristics in some pregnancies and not others; genetic factors may contribute to this differential vulnerability. Ethanol disrupts multiple events of neural crest development, including induction, survival, migration, and differentiation. Animal models and genomic approaches have substantially advanced our understanding of the mechanisms underlying these facial changes. PAE during gastrulation produces craniofacial changes corresponding with human fetal alcohol syndrome. These result because PAE reduces prechordal plate extension and suppresses sonic hedgehog, leading to holoprosencephaly and malpositioned facial primordia. Haploinsufficiency in sonic hedgehog signaling increases vulnerability to facial deficits and may influence some PAE pregnancies. In contrast, PAE during early neurogenesis produces facial hypoplasia, preceded by neural crest reductions due to significant apoptosis. Factors mediating this apoptosis include intracellular calcium mobilization, elevated reactive oxygen species, and loss of trophic support from β-catenin/calcium, sonic hedgehog, and mTOR signaling. Genome-wide SNP analysis links PDGFRA with facial outcomes in human PAE. Multiple genomic-level comparisons of ethanol-sensitive and – resistant early embryos, in both mouse and chick, independently identify common candidate genes that may potentially modify craniofacial vulnerability, including ribosomal proteins, proteosome, RNA splicing, and focal adhesion. In summary, research using animal models with genome-level differences in ethanol vulnerability, as well as targeted loss-and gain-of-function mutants, has clarified the mechanisms mediating craniofacial change in PAE. The findings additionally suggest that craniofacial deficits may represent a gene–ethanol interaction for some affected individuals. Genetic-level changes may prime individuals toward greater sensitivity or resistance to ethanol’s neurotoxicity

  10. Low-Amplitude Craniofacial EMG Power Spectral Density and 3D Muscle Reconstruction from MRI.

    PubMed

    Wiedemann, Lukas; Chaberova, Jana; Edmunds, Kyle; Einarsdóttir, Guðrún; Ramon, Ceon; Gargiulo, Paolo

    2015-03-11

    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. The relationship between patency of the maxillary sinus and craniofacial growth in the rabbit.

    PubMed

    Kraut, J M; Kronman, J H

    1988-06-01

    Numerous researchers report the interaction between deviant respiratory patterns (airway obstruction) and craniofacial growth. Many of these studies consisted of cephalometric evaluations of children with enlarged adenoids, obstruction turbinates, or other nasal obstructions. Other experimental studies of the airway's influence on growth include studies that have induced nasal obstruction in animals by plugging the external nares. No investigations were found that examined the role of the paranasal sinuses in craniofacial growth by filling a sinus in growing animals. Furthermore, nothing appears in the literature that considers the paranasal sinuses in the oronasopharyngeal functional matrix theory. The purpose of this study was twofold: (1) to determine the effect of decreasing the pneumatization of the maxillary sinus on ultimate craniofacial growth and development, and (2) to determine the effect on future morphology by obturating a growing sinus. New Zealand white weaning rabbits were used as the experimental animals. Unilateral maxillary sinuses were injected in 18 animals--nine animals were injected on the right side and nine on the left. Eight rabbits served as controls: five received left-side and three right-side sham injections. Dorsal view cephalometric radiographs were taken at (1) the start, (2) at three progress intervals, and (3) at the end of the experiment. Dried skull direct measurements also were performed at the conclusion of the experiment. No statistical significance was found when comparing right and left sides within groups or when comparing any measurement between groups. This demonstrated that filling the maxillary sinuses had no effect on craniofacial growth; the sinuses grew normally in all animals.

  12. 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.

  13. Cichlid fishes as a model to understand normal and clinical craniofacial variation.

    PubMed

    Powder, Kara E; Albertson, R Craig

    2016-07-15

    We have made great strides towards understanding the etiology of craniofacial disorders, especially for 'simple' Mendelian traits. However, the facial skeleton is a complex trait, and the full spectrum of genetic, developmental, and environmental factors that contribute to its final geometry remain unresolved. Forward genetic screens are constrained with respect to complex traits due to the types of genes and alleles commonly identified, developmental pleiotropy, and limited information about the impact of environmental interactions. Here, we discuss how studies in an evolutionary model - African cichlid fishes - can complement traditional approaches to understand the genetic and developmental origins of complex shape. Cichlids exhibit an unparalleled range of natural craniofacial morphologies that model normal human variation, and in certain instances mimic human facial dysmorphologies. Moreover, the evolutionary history and genomic architecture of cichlids make them an ideal system to identify the genetic basis of these phenotypes via quantitative trait loci (QTL) mapping and population genomics. Given the molecular conservation of developmental genes and pathways, insights from cichlids are applicable to human facial variation and disease. We review recent work in this system, which has identified lbh as a novel regulator of neural crest cell migration, determined the Wnt and Hedgehog pathways mediate species-specific bone morphologies, and examined how plastic responses to diet modulate adult facial shapes. These studies have not only revealed new roles for existing pathways in craniofacial development, but have identified new genes and mechanisms involved in shaping the craniofacial skeleton. In all, we suggest that combining work in traditional laboratory and evolutionary models offers significant potential to provide a more complete and comprehensive picture of the myriad factors that are involved in the development of complex traits. PMID:26719128

  14. Photoanthropometric study of craniofacial traits of individuals with Prader-Willi syndrome.

    PubMed

    Butler, M G; Levine, G J; Le, J Y; Hall, B D; Cassidy, S B

    1995-07-31

    A photoanthropometric method, which enables an objective description of facial structures, was used to better delineate the craniofacial characteristics of 37 individuals with Prader-Willi syndrome (PWS; 21 males and 16 females; 22 with 15q11q13 deletions and 15 with normal-appearing chromosome 15s) between the ages of 0 to 12 years. Facial parameters were measured from strict frontal and profile photographic 35 mm slides and compared with other facial measurements from the same face (e.g., palpebral fissure width to bizygomatic diameter). We studied 16 photoanthropometric craniofacial indices following the protocols established by Stengel-Rutkowski et al. [1984: Hum Genet 67:272-295] and Butler et al. [1988: Am J Med Genet 30:165-168]. Based on our measurements of 37 Prader-Willi syndrome individuals, none of the parameters were consistently outside of the normal range when compared with photoanthropometric index standards for age established from white control children [Stengel-Rutkowski et al., 1984]. However, several suggestive findings were documented by our analysis including: narrow palpebral fissure width [particularly in older children (6-12 years)], high midface, broad interalar distance, short back of the nose, prominent high chin, and broad low-set ears. No significant differences were found in craniofacial parameters between deletion or nondeletion Prader-Willi syndrome patients with this methodology. These craniofacial parameters (many not previously evaluated in PWS patients) may become useful for early detection, and aid in the diagnosis and the study of the development of the characteristic face seen in Prader-Willi patients. PMID:7573154

  15. 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

  16. 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

  17. Low-Amplitude Craniofacial EMG Power Spectral Density and 3D Muscle Reconstruction from MRI.

    PubMed

    Wiedemann, Lukas; Chaberova, Jana; Edmunds, Kyle; Einarsdóttir, Guðrún; Ramon, Ceon; Gargiulo, Paolo

    2015-03-11

    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.

  18. Genomic factors that shape craniofacial outcome and neural crest vulnerability in FASD.

    PubMed

    Smith, Susan M; Garic, Ana; Berres, Mark E; Flentke, George R

    2014-01-01

    Prenatal alcohol exposure (PAE) causes distinctive facial characteristics in some pregnancies and not others; genetic factors may contribute to this differential vulnerability. Ethanol disrupts multiple events of neural crest development, including induction, survival, migration, and differentiation. Animal models and genomic approaches have substantially advanced our understanding of the mechanisms underlying these facial changes. PAE during gastrulation produces craniofacial changes corresponding with human fetal alcohol syndrome. These result because PAE reduces prechordal plate extension and suppresses sonic hedgehog, leading to holoprosencephaly and malpositioned facial primordia. Haploinsufficiency in sonic hedgehog signaling increases vulnerability to facial deficits and may influence some PAE pregnancies. In contrast, PAE during early neurogenesis produces facial hypoplasia, preceded by neural crest reductions due to significant apoptosis. Factors mediating this apoptosis include intracellular calcium mobilization, elevated reactive oxygen species, and loss of trophic support from β-catenin/calcium, sonic hedgehog, and mTOR signaling. Genome-wide SNP analysis links PDGFRA with facial outcomes in human PAE. Multiple genomic-level comparisons of ethanol-sensitive and - resistant early embryos, in both mouse and chick, independently identify common candidate genes that may potentially modify craniofacial vulnerability, including ribosomal proteins, proteosome, RNA splicing, and focal adhesion. In summary, research using animal models with genome-level differences in ethanol vulnerability, as well as targeted loss-and gain-of-function mutants, has clarified the mechanisms mediating craniofacial change in PAE. The findings additionally suggest that craniofacial deficits may represent a gene-ethanol interaction for some affected individuals. Genetic-level changes may prime individuals toward greater sensitivity or resistance to ethanol's neurotoxicity. PMID

  19. 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.

  20. Epidermal growth factor receptor function is necessary for normal craniofacial development and palate closure.

    PubMed

    Miettinen, P J; Chin, J R; Shum, L; Slavkin, H C; Shuler, C F; Derynck, R; Werb, Z

    1999-05-01

    Craniofacial malformations are among the most frequent congenital birth defects in humans; cleft palate, that is inadequate fusion of the palatal shelves, occurs with an annual incidence of 1 in 700 to 1 in 1,000 live births among individuals of European descent. The secondary palate arises as bilateral outgrowths from the maxillary processes, and its formation depends on the coordinated development of craniofacial structures including the Meckel's cartilage and the mandible. Cleft lip and palate syndromes in humans are associated with polymorphisms in the gene (TGFA) encoding transforming growth factor-alpha (TGF-alpha), an epidermal growth factor receptor (EGFR) ligand made by most epithelia. Here we have characterized craniofacial development in Egfr-deficient (Egfr-/-) mice. Newborn Egfr-/- mice have facial mediolateral defects including narrow, elongated snouts, underdeveloped lower jaw and a high incidence of cleft palate. Palatal shelf explants from Egfr-/- mice fused, but frequently had residual epithelium in the midline. In addition, morphogenesis of Meckel's cartilage was deficient in cultured mandibular processes from Egfr-/- embryos. The secretion of matrix metalloproteinases (MMPs) was diminished in Egfr-/- explants, consistent with the ability of EGF to increase MMP secretion and with the decreased MMP expression caused by inhibition of Egfr signalling in wild-type explants. Accordingly, inactivation of MMPs in wild-type explants phenocopied the defective morphology of Meckel's cartilage seen in Egfr-/- explants. Our results indicate that EGFR signalling is necessary for normal craniofacial development and that its role is mediated in part by its downstream targets, the MMPs, and may explain the genetic correlation of human cleft palate with polymorphisms in TGFA.

  1. 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

  2. Lyophilized platelet-rich fibrin (PRF) promotes craniofacial bone regeneration through Runx2.

    PubMed

    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

    2014-05-14

    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.

  3. Bioabsorbable plates and screws in pediatric craniofacial surgery: a review of 22 cases.

    PubMed

    Kumar, A V; Staffenberg, D A; Petronio, J A; Wood, R J

    1997-03-01

    The purpose of this study was to evaluate the application of bioabsorbable fixation devices in reconstructive craniofacial procedures in the pediatric population. We reviewed 22 cases in which bioabsorbable plates and screws were used in craniofacial surgery for reconstruction. The procedures were performed in a 7-month period. The patients ranged in age from 5 to 228 months at the time of surgery (mean, 76.7 months). The postoperative clinical follow-up ranged from 2 to 16 weeks. The fixation devices were evaluated with regards to satisfactory fixation at the time of procedure. The postoperative follow-up evaluated clinical wound healing, signs of infection or local inflammation, and visibility or palpability of plates through the skin. All patients except one showed satisfactory wound healing with no sign of infection or local inflammation. The plates provided satisfactory fixation and were not visible through the skin. Two patients had plates that were palpable at the 4-month follow-up period. One patient with repair of a blow-out fracture of the orbit with resorbable mesh had redness and swelling over the wound site 2 weeks postoperatively with resolution 4 weeks postoperatively. Our early experience suggests reabsorbable fixation is an attractive option in pediatric plastic and craniofacial surgery. With further experience, this technology may represent the standard of care in reconstruction of the infant calvarium. PMID:10332274

  4. The Partnership of Medical Genetics and Oral and Maxillofacial Surgery When Evaluating Craniofacial Anomalies.

    PubMed

    Lin, Angela E

    2015-12-01

    A medical geneticist who has an interest in craniofacial anomalies forms a natural partnership with an oral and maxillofacial surgeon, which facilitates patient care. Using complementary diagnostic and therapeutic skills, the search for a recognizable pattern can lead to a syndrome diagnosis. After the initial examination, there is usually genetic testing to confirm the clinical diagnosis. Once established, care coordination and genetic counseling can be provided for the parents and the patient. Enrolling the patient into a research study could be helpful to understand the diagnosis but, in some circumstances, might not have immediate clinical relevance. A multidisciplinary craniofacial team is generally necessary for long-term management. This article discusses illustrative patients evaluated from 2007 through 2011 with the senior oral and maxillofacial surgeon at the Massachusetts General Hospital (Leonard B. Kaban, DMD, MD). These include single patients with the Nablus mask-like facies syndrome and auriculo-condylar syndrome and a series of 20 patients with Gorlin syndrome followed by a multispecialty team. A successful collaboration between a medical geneticist and an oral and maxillofacial surgeon optimizes the treatment of patients with craniofacial anomalies.

  5. 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

  6. Lyophilized platelet-rich fibrin (PRF) promotes craniofacial bone regeneration through Runx2.

    PubMed

    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

  7. The Partnership of Medical Genetics and Oral and Maxillofacial Surgery When Evaluating Craniofacial Anomalies.

    PubMed

    Lin, Angela E

    2015-12-01

    A medical geneticist who has an interest in craniofacial anomalies forms a natural partnership with an oral and maxillofacial surgeon, which facilitates patient care. Using complementary diagnostic and therapeutic skills, the search for a recognizable pattern can lead to a syndrome diagnosis. After the initial examination, there is usually genetic testing to confirm the clinical diagnosis. Once established, care coordination and genetic counseling can be provided for the parents and the patient. Enrolling the patient into a research study could be helpful to understand the diagnosis but, in some circumstances, might not have immediate clinical relevance. A multidisciplinary craniofacial team is generally necessary for long-term management. This article discusses illustrative patients evaluated from 2007 through 2011 with the senior oral and maxillofacial surgeon at the Massachusetts General Hospital (Leonard B. Kaban, DMD, MD). These include single patients with the Nablus mask-like facies syndrome and auriculo-condylar syndrome and a series of 20 patients with Gorlin syndrome followed by a multispecialty team. A successful collaboration between a medical geneticist and an oral and maxillofacial surgeon optimizes the treatment of patients with craniofacial anomalies. PMID:26608141

  8. 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

  9. 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. PMID:27516839

  10. The value of stereolithographic models for preoperative diagnosis of craniofacial deformities and planning of surgical corrections.

    PubMed

    Sailer, H F; Haers, P E; Zollikofer, C P; Warnke, T; Carls, F R; Stucki, P

    1998-10-01

    The purpose of this study was to assess the importance of stereolithographic models (SLMs) for preoperative diagnosis and planning in craniofacial surgery and to examine whether these models offer valuable additional information as compared to normal CT scans and 3D CT images. Craniofacial SLMs of 20 patients with craniomaxillofacial pathology were made. A helical volume CT scan of the anatomic area involved delivered the necessary data for their construction. These were built with an SLA 250 stereolithography apparatus (3D-Systems, Valencia, CA, USA), steered by FORM-IT/DCS software (University of Zurich, Switzerland). The stereolithography models were classified according to pathology, type of surgery and their relevance for surgical planning. Though not objectively measurable, it was beyond doubt that relevant additional information for the surgeon was obtained in cases of hypertelorism, severe asymmetries of the neuro- and viscerocranium, complex cranial synostoses and large skull defects. The value of these models as realistic "duplicates" of complex or rare dysmorphic craniofacial pathology for the purpose of creating a didactic collection should also be emphasized. The models proved to be less useful in cases of consolidated fractures of the periorbital and naso-ethmoidal complex, except where there was major dislocation.

  11. 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.

  12. 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

  13. Skeletal myoblasts for cardiac repair

    PubMed Central

    Durrani, Shazia; Konoplyannikov, Mikhail; Ashraf, Muhammad; Haider, Khawaja Husnain

    2011-01-01

    Stem cells provide an alternative curative intervention for the infarcted heart by compensating for the cardiomyocyte loss subsequent to myocardial injury. The presence of resident stem and progenitor cell populations in the heart, and nuclear reprogramming of somatic cells with genetic induction of pluripotency markers are the emerging new developments in stem cell-based regenerative medicine. However, until safety and feasibility of these cells are established by extensive experimentation in in vitro and in vivo experimental models, skeletal muscle-derived myoblasts, and bone marrow cells remain the most well-studied donor cell types for myocardial regeneration and repair. This article provides a critical review of skeletal myoblasts as donor cells for transplantation in the light of published experimental and clinical data, and indepth discussion of the advantages and disadvantages of skeletal myoblast-based therapeutic intervention for augmentation of myocardial function in the infarcted heart. Furthermore, strategies to overcome the problems of arrhythmogenicity and failure of the transplanted skeletal myoblasts to integrate with the host cardiomyocytes are discussed. PMID:21082891

  14. Skeletal trauma in child abuse.

    PubMed

    Swoboda, Sara L; Feldman, Kenneth W

    2013-11-01

    Fractures and other skeletal injuries are common in childhood. Most are the result of falls, motor vehicle accidents, and other forms of accidental trauma. However, skeletal trauma is present in a significant number of abused children. Age and developmental abilities are key components in raising clinical suspicion for child abuse. Children who are unable to provide their own history because of age or developmental delay require increased attention. Younger children are more likely to have abusive fractures, whereas accidental fractures increase with age and developmental abilities. The consequences of missing abuse are high because children returned to their homes without intervention are likely to face further abuse and have an increased mortality risk. Because of the potentially high cost of undiagnosed child abuse, diagnosis of a skeletal injury is incomplete without diagnosing its etiology. All health providers for children should be able to recognize patterns of skeletal injury secondary to abusive trauma and understand the process for initiating Child Protective Services (CPS) investigations when necessary. Although they can occur accidentally, fractures in nonmobile children should always increase the clinician's concern for abusive trauma. In light of the significant consequences for children when abuse is missed by a primary care provider, abuse should be on the differential diagnosis for all presenting childhood injuries.

  15. Atlas of fetal skeletal radiology

    SciTech Connect

    Ornov, A.; Borochowitz, Z.; Lachman, R.; Rimoin, D.L.

    1987-01-01

    This atlas presents anterior, posterior and lateral views of normal but spontaneously aborted fetuses from 10 weeks through 27 weeks of gestation. The series of radiographs exhibits a wide array of skeletal dysplasia, and a chapter on the normal chondroosseous development - the formation of cartilage and bone and ossification of individual bones is included for further clarification.

  16. 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.

  17. 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.

  18. Skeletal Fragility in Endogenous Hypercortisolism.

    PubMed

    Mazziotti, Gherardo; Delgado, Adriano; Maffezzoni, Filippo; Formenti, Annamaria; Giustina, Andrea

    2016-01-01

    Skeletal fragility is a frequent complication of endogenous hypercortisolism, and fragility fractures may be the first clinical manifestation of the disease. Fractures involve more frequently the vertebrae and may occur in 30-50% of the patients exposed to glucocorticoid excess, in close relationship with severity and duration of hypercortisolism. Although improvement of bone mineral density was reported after resolution of hypercortisolism, there are patients with persistently high fracture risk after the cure of hypercortisolism, and other patients in whom the resolution of hypercortisolism may take a long time, implying a multistep therapeutic approach. Since vertebral fractures tend to occur early during the natural history of disease, a skeletal-specific approach should be undertaken in these patients; however, the cost-effectiveness of this approach is still largely unknown since data on effectiveness and safety of bone-active drugs in endogenous hypercortisolism are scarce. PMID:27210111

  19. 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.

  20. 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.