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Sample records for 1400-km cleft ion

  1. TIDE Observations of Cusp and Cleft Multiple Ion Populations

    NASA Technical Reports Server (NTRS)

    Coffey, Victoria N.; Chandler, Michael O.; Moore, Thomas E.

    2000-01-01

    The southern pole pass of Polar/TIDe at 5000 km allows a study of the distributions of the cusp and cleft. We discuss observations of TIDE (Thermal Ion Dynamics Experiment) as it passes the southern pole on March 29, 1999. A mixture of several cold outflowing ions (0.3-10 eV) are measured simultaneously with magnetospheric precipitation (greater than 100 eV). We will show a study of these multiple plasma distributions, their source, and their interaction.

  2. Dayside observations of thermal-ion upwellings at 800-km altitude - An ionospheric signature of the cleft ion fountain

    NASA Technical Reports Server (NTRS)

    Tsunoda, R. T.; Livingston, R. C.; Vickrey, J. F.; Heelis, R. A.; Hanson, W. B.

    1989-01-01

    There is a growing body of evidence that energetic heavy ions observed at one or more earth radii over the polar cap originate from the dayside ionosphere in the vicinity of the dayside cleft. The ions, consisting mostly of O(+), are often characterized by conic pitch-angle distributions, suggesting that they have undergone acceleration transverse to geomagnetic field lines. This process of ion injection from a latitudinally localized source region in the dayside auroral oval followed by dispersal throughout the entire polar cap has been called the 'cleft ion fountain'. Here, results are presented of upward thermal-ion flows measured at 800-km altitude in the dayside polar ionosphere by the Hilat satellite. The characteristics of these thermal-ion upwellings (TIU) are described and shown to be closely associated with the cleft ion fountain. It is shown that TIU events are latitudinally confined and spatially collocated with cleft electron precipitation, upward field-aligned currents, and velocity gradients in magnetospheric convection.

  3. Rapid Kinematic and Tectonic Variations Along the 1400-km-long Australia-Woodlark Plate Boundary Zone, Papua New Guinea and Woodlark Basin

    NASA Astrophysics Data System (ADS)

    Mann, P.; Taylor, F. W.; Gahagan, L.; Watson, L.

    2004-12-01

    Previous GPS studies have shown the wide variability in present-day plate motions across the highly arcuate, 1400-km-long Australia-Woodlark plate boundary extending from Papua New Guinea to the Solomon Islands. GPS-determined motions range from orthogonal oceanic spreading in the Woodlark basin, to continental transtension in the 2.5-km-high core complex area of easternmost Papua New Guinea, to continental strike-slip and transpression in 4-km-high mountains of the Papuan Peninsula. We use imagery, earthquake focal mechanisms, coral reef uplift data, and structural mapping studies to establish the along-strike continuity of the active plate boundary fault. Systematic angular changes in the direction of the plate vector along this continuous fault explain its varied tectonic geomorphology, Holocene uplift history, and geologic structure. We use a series of plate reconstructions to illustrate the longer term, Cenozoic evolution of this boundary including: its formation as an arcuate, N- and NE-dipping ophiolitic suture zone during Paleogene time, the progressive "unzippering" of this thrust over the past 6 Ma along a N- and NE-dipping, low-angle normal fault in easternmost Papua New Guinea, and its "zippering" or continued shortening on the suture thrust in the Owen Stanley Ranges of the Papuan Peninsula. Over the 1400-km-length of the fault, the length of segments of oceanic spreading, transtension, and transpression is 250-500 km; the time period separating one tectonic style from the succeeding style encroaching from the east is several million years. This systematic spatial and temporal superposition of tectonic styles, leads to complex - but predictable - along-strike variations in geologic history.

  4. Simulations of the Cleft Ion Fountain outflows resulting from the passage of Storm Enhanced Density (SED) plasma flux tubes through the dayside cleft auroral processes region

    NASA Astrophysics Data System (ADS)

    Horwitz, James; Zeng, Wen

    2007-10-01

    Foster et al. [2002] reported elevated ionospheric density regions convected from subauroral plasmaspheric regions toward noon, in association with convection of plasmaspheric tails. These Storm Enhanced Density (SED) regions could supply cleft ion fountain outflows. Here, we will utilize our Dynamic Fluid Kinetic (DyFK) model to simulate the entry of a high-density ``plasmasphere-like'' flux tube entering the cleft region and subjected to an episode of wave-driven transverse ion heating. It is found that the O^+ ion density at higher altitudes increases and the density at lower altitudes decreases, following this heating episode, indicating increased fluxes of O^+ ions from the ionospheric source gain sufficient energy to reach higher altitudes after the effects of transverse wave heating. Foster, J. C., P. J. Erickson, A. J. Coster, J. Goldstein, and F. J. Rich, Ionospheric signatures of plasmaspheric tails, Geophys. Res. Lett., 29(13), 1623, doi:10.1029/2002GL015067, 2002.

  5. Storm Enhanced Density (SED) plumes as possible suppliers of dayside cleft ion fountain

    NASA Astrophysics Data System (ADS)

    Horwitz, James

    Foster et al. [2002] have observed elevated ionospheric density regions being convected from the subauroral plasmaspheric region toward noon, in association with convection of plasmaspheric tails in the dayside magnetosphere. These so-called Storm Enhanced Density (SED) regions could serve as ionospheric plasma source populations for cleft ion fountain outflows. Here we examine this scenario and employ our fluid-kinetic ionospheric plasma transport code to simulate the entry of a high-density "plasmasphere-like" flux tube entering the cleft region and subjected to an episode of wave-driven transverse ion heating. We find that such pronounced intervals of SED at F-region and topside altitudes passing through regions of CIF processes indeed appear capable of supporting episodes of strong CIF outflows. Foster, J. C., P. J. Erickson, A. J. Coster, J. Goldstein, and F. J. Rich, Ionospheric signatures of plasmaspheric tails, Geophys. Res. Lett., 29(13), 1623, doi:10.1029/2002GL015067, 2002.

  6. Distribution in magnetotail of O(+) ions from cusp/cleft ionosphere - A possible substorm trigger

    NASA Technical Reports Server (NTRS)

    Cladis, J. B.; Francis, W. E.

    1992-01-01

    The transport of O(+) ions from the cusp/cleft ionosphere to the magnetotail during highly disturbed times was determined by computing the guiding-center trajectories of the ions to a distance of 6 R(E) from the ionosphere and the full-motion trajectories at later times. Case histories were tallied in six planes perpendicular to the X(GSM) axis, three planes perpendicular to the Y(GSM) axis, and in the center plane of the tail. At various times relative to the enhancement of the convection electric field, the following ion properties were constructed from the case histories: number density, mean energy, energy and pitch angle distributions of the flux, and ion pressure components parallel and perpendicular to the magnetic field. It was found that, after about 1.7 hours, the ion flux in the near-earth magnetotail increased dramatically and the spectrum hardened, much as observed during periods just preceding substorms. This increase is attributed to (1) the increase in the O(+) outflux from the ionosphere, (2) the increased energization of the ions by the convection electric field, and (3) ion trapping, which generally occurs because the ion magnetic moments generally increase after the ions first cross the geomagnetotail center plane.

  7. Cleft Lip and Cleft Palate

    MedlinePlus

    ... Age Support Resources Books for Kids and Adults Cleft Lip/Palate & Craniofacial Specialists in Your Area FAQs for ... Conference: For Patients and Families Glossary of Terms Cleft lip and cleft palate comprise the most common birth ...

  8. Dynamic Fluid-Kinetic (DyFK) Simulations of Storm-Enhanced Density Supply of Cleft Ion Fountain Outflows

    NASA Astrophysics Data System (ADS)

    Horwitz, J. L.; Zeng, W.; Foster, J. C.; Strangeway, R. J.; Adrian, M. L.; Moore, T. E.

    2008-12-01

    Elevated ionospheric density regions frequently appear to be convected from the subauroral plasmaspheric region toward noon, in association with convection of plasmaspheric tails in the dayside magnetosphere, typically during large geomagnetic storms. In this presentation, we explore the possibility that these Storm Enhanced Density (SED) regions could provide ionospheric plasma source populations for cleft ion fountain outflows. We use our Dynamic Fluid Kinetic (DyFK) code to simulate the entry of a high-density "plasmasphere-like" flux tube entering the cleft region and subjected to an episode of wave-driven transverse ion heating. The results of including different proportions of SED and soft electron precipitation levels, together with transverse ion heating effects on the resulting outflows, will be presented, including the O+ and H+ ion density and related parameter profiles for the simulated SED involved events. We will also compare these modeling results with SED-outflow observations from GPS TEC, and the FAST and IMAGE spacecraft. Foster, J. C., P. J. Erickson, A. J. Coster, J. Goldstein, and F. J. Rich, Ionospheric signatures of plasmaspheric tails, Geophys. Res. Lett., 29(13), 1623, doi:10.1029/2002GL015067, 2002.

  9. Cleft Lip and Palate

    MedlinePlus

    ... Got Homework? Here's Help White House Lunch Recipes Cleft Lip and Cleft Palate KidsHealth > For Kids > Cleft Lip ... to the back of your mouth. What's a Cleft Lip or Cleft Palate? The word cleft means a ...

  10. Cleft Lip and Cleft Palate

    MedlinePlus

    ... refers to a cleft in the lip only accounting for 20 percent of all clefts. What causes ... permission. Oral Cavity Get Involved Professional Development Practice Management ENT Careers Marketplace Privacy Policy Terms of Use ...

  11. Cleft rhinoplasty

    PubMed Central

    Baskaran, M.; Packiaraj, I.; Arularasan, S. Gidean; Divakar, T. K.

    2015-01-01

    It is universally accepted that correction of cleft lip nose deformity remains a formidable challenge for any cleft surgeon. The nose is a prominent part of the face, and hence a masterly executed cleft lip repair directs the beholders’ eyes from the deformed lip to the deformed nose. A deformed nose that results from unilateral cleft of the lip and palate is likened to a tent whose one side is depressed. Many investigators believe that the deformity of the nose is produced by the malpositioning of essentially normal structures, on the other hand some cleft surgeons contend that it is the intrinsic defects in nasal structures that result in cleft nasal deformity. Depressed and hypoplastic bony scaffolding is the most important aspect of cleft nose deformity and addressing this aspect of cleft nose deformity is the secret of success of a perfect secondary rhinoplasty. Controversy still exists on timing of cleft nasal deformity. Proponents of delayed nasal repair suggest that altering the cartilages in early nasal repair at the time of lip repair would complicate future corrective nasal surgeries if the primary repair would prove unsatisfactory. The correction of nasal deformity could be performed with closed or open technique. This paper highlights one such challenging unilateral cleft lip nasal deformity in a adult patient treated by secondary rhinoplasty by open technique. PMID:26538945

  12. Cleft rhinoplasty.

    PubMed

    Baskaran, M; Packiaraj, I; Arularasan, S Gidean; Divakar, T K

    2015-08-01

    It is universally accepted that correction of cleft lip nose deformity remains a formidable challenge for any cleft surgeon. The nose is a prominent part of the face, and hence a masterly executed cleft lip repair directs the beholders' eyes from the deformed lip to the deformed nose. A deformed nose that results from unilateral cleft of the lip and palate is likened to a tent whose one side is depressed. Many investigators believe that the deformity of the nose is produced by the malpositioning of essentially normal structures, on the other hand some cleft surgeons contend that it is the intrinsic defects in nasal structures that result in cleft nasal deformity. Depressed and hypoplastic bony scaffolding is the most important aspect of cleft nose deformity and addressing this aspect of cleft nose deformity is the secret of success of a perfect secondary rhinoplasty. Controversy still exists on timing of cleft nasal deformity. Proponents of delayed nasal repair suggest that altering the cartilages in early nasal repair at the time of lip repair would complicate future corrective nasal surgeries if the primary repair would prove unsatisfactory. The correction of nasal deformity could be performed with closed or open technique. This paper highlights one such challenging unilateral cleft lip nasal deformity in a adult patient treated by secondary rhinoplasty by open technique. PMID:26538945

  13. Magnetosheath-ionospheric plasma interactions in the cusp/cleft. 1: Observations of modulated injections and upwelling ion fluxes

    NASA Technical Reports Server (NTRS)

    Winglee, R. M.; Menietti, J. D.; Peterson, W. K.; Burch, J. L.; Waite, J. H., Jr.; Giles, B.

    1993-01-01

    In situ observations of the cusp/cleft are important as they allow a direct investigation of coupling solar wind energy to the ionosphere, plus they provide an opportunity for the remote sensing of the magnetopause. High time resolution observations from Dynamic Explorer 1 are used to investigate these processes. It is shown that in the spacecraft frame the injection is modulated or pulsating with a period of approximately 18-30 s with the injection duration possibly being as short as 6 s. This modulation indicates that there may be fast time scale and/or short scale length processes modulating the injection of the magnetosheath plasma across the magnetopause. In addition, the pulsating injection is seen to modulate the outflow of upwelling ionospheric ions to the magnetosphere. These upwelling ions are seen prior to the magnetosheath ion injection and therefore are not directly created by the injection. During the injection itself, the intensity of the upwelling ions is seen to dramatically decrease but their average energy increases. At end of the magnetosheath injections, the intensity of the upwelling ion flux is seen to increase to levels comparable to levels prior to the magnetosheath injection. On two occasions during the encounter, the particle fluxes are sufficiently high that enhanced downward flows of perpendicularly heated ions, of presumably ionospheric origin, are observed in association with a reduction in the intensity of the upwelling ions. These observations are probably the first detection of downward conics and suggest that there is momentum transfer between the magnetosheath and ionospheric ions. This momentum transfer eventually leads to an enhanced outflow of heated ionospheric plasma where their energy has been raised from a few tens of eV to a few hundred eV.

  14. Submucous Clefts

    MedlinePlus

    ... properly and the individual is at risk for speech problems, middle ear disease, and swallowing difficulties. However, ... for a submucous cleft palate is abnormal nasal speech. Other symptoms may include persistent middle ear disease ...

  15. Cleft lip and palate

    MedlinePlus

    Cleft palate; Craniofacial defect ... way to the base of the nose. A cleft palate can be on 1 or both sides of ... nose, and palate confirms a cleft lip or cleft palate. Medical tests may be done to rule out ...

  16. Cleft Lip and Cleft Palate

    MedlinePlus

    ... virus and pregnancy Microcephaly Medicine safety and pregnancy Birth defects prevention Learn how to help reduce your risk ... of all races about the same. Can other birth defects happen along with oral clefts? Yes. There are ...

  17. Laryngotracheoesophageal clefts.

    PubMed

    Strychowsky, Julie E; Rahbar, Reza

    2016-06-01

    Laryngotracheoesophageal clefts are rare congenital anomalies of the aerodigestive tract. Patients may present with airway and/or swallowing impairments. An approach to evaluation and management is presented. Important pearls for conservative and surgical management are discussed. Open versus endoscopic surgical techniques are reviewed. PMID:27301597

  18. Cleft Lip and Palate

    MedlinePlus

    Cleft lip and cleft palate are birth defects that occur when a baby's lip or mouth do not form properly. They happen early during ... A baby can have a cleft lip, a cleft palate, or both. A cleft lip happens if the ...

  19. Cleft palate - resources

    MedlinePlus

    Resources - cleft palate ... The following organizations are good resources for information on cleft palate : Cleft Palate Foundation -- www.cleftline.org March of Dimes -- www.marchofdimes.com/professionals/14332_1210.asp ...

  20. Variations in ion composition at middle and low latitudes from Isis 2 satellite

    NASA Technical Reports Server (NTRS)

    Breig, E. L.; Hoffman, J. H.

    1975-01-01

    The paper describes absolute ion concentration measurements with an ion mass spectrometer on the Isis 2 satellite and discusses features of the ion composition near a fixed altitude of 1400 km as they relate to longitudinal and latitudinal variations at low and middle latitudes. Two distinct classes of daytime ionospheric behavior are observed. The data obtained confirm the strong solar-geomagnetic seasonal control over the topside ion distribution. The new phenomena associated with the observed longitudinal dependence of the ion composition at 1400 km demonstrate the existence of complex physical processes which take place in this region of the ionosphere.

  1. Cleft lip and palate repair

    MedlinePlus

    Orofacial cleft; Craniofacial birth defect repair; Cheiloplasty; Cleft rhinoplasty; Palatoplasty; Tip rhinoplasty ... A cleft lip is a birth defect: A cleft lip may be just a small notch in the lip. It may also be a complete split in the ...

  2. Cleft lip and palate

    MedlinePlus

    Cleft lip and palate are birth defects that affect the upper lip and the roof of the mouth. ... There are many causes of cleft lip and palate. Problems with genes ... viruses, or other toxins can all cause these birth defects. ...

  3. Cleft Lip and Palate

    MedlinePlus

    ... ear infections, hearing loss, and problems with their teeth. Often, surgery can close the lip and palate. Cleft lip surgery is usually done before age 12 months, and cleft palate surgery is done ...

  4. Cleft Palate Foundation

    MedlinePlus

    ... for a list of 2016 funded research projects. Cleft Palate Foundation 1504 East Franklin Street, Suite 102 Chapel ... to order bottles Order CPF publications © Copyright 2014 Cleft Palate Foundation. Website by Mixer Creative Follow us on ...

  5. Clefting of the Alveolus: Emphasizing the Distinction from Cleft Palate.

    PubMed

    Wirtz, Nicholas; Sidman, James; Block, William

    2016-05-01

    Oral clefting is one of the most common significant fetal abnormalities. Cleft lip and cleft palate have drastically different clinical ramifications and management from one another. A cleft of the alveolus (with or without cleft lip) can confuse the diagnostic picture and lead to a false assumption of cleft palate. The cleft alveolus should be viewed on the spectrum of cleft lip rather than be associated with cleft palate. This is made evident by understanding the embryological development of the midface and relevant terminology. Cleft alveolus carries significantly different clinical implications and treatment options than that of cleft palate. Accurately distinguishing cleft alveolus from cleft palate is crucial for appropriate discussions regarding the patient's care. PMID:26906186

  6. Cleft Palate; A Multidiscipline Approach.

    ERIC Educational Resources Information Center

    Stark, Richard B., Ed.

    Nineteen articles present a multidisciplinary approach to the management of facial clefts. The following subjects are discussed: the history of cleft lip and cleft palate surgery; cogenital defects; classification; the operation of a cleft palate clinic; physical examination of newborns with cleft lip and/or palate; nursing care; anesthesia;…

  7. Cleft Lip and Palate Surgery

    MedlinePlus

    ... The experts in face, mouth and jaw surgery. Cleft Lip / Palate and Craniofacial Surgery This type of surgery ... to correct a physical defect caused by a cleft lip or cleft palate, which occur once in every ...

  8. Cleft Lip Nose.

    PubMed

    Sykes, Jonathan M; Tasman, Abel-Jan; Suárez, Gustavo A

    2016-01-01

    All patients with a cleft lip deformity have an associated nasal deformity that varies in degree of severity. A three-dimensional understanding of the anatomy of the cleft nose aids surgeons in selecting the proper technique for repair. Analysis and performance of orthognathic surgery should be done before nasal surgery to optimize the overall result. Goals of the secondary rhinoplasty include relief of nasal obstruction, creation of symmetry and definition of the nasal base and tip, and management of nasal scarring and webbing. Septal reconstruction in the cleft nose is a key maneuver in cleft rhinoplasty. PMID:26616710

  9. Continuation of data analysis from the ion mass spectrometer on the ISIS-2 spacecraft

    NASA Technical Reports Server (NTRS)

    Hoffman, J. H.

    1981-01-01

    The spectrometer measures the composition and number density of the positive ion species in the ionosphere as well as the ion flux normal to the spacecraft trajectory. The measurement of high latitude ionospheric dynamics is reported. Plans for an empirical composition model of the polar ionosphere at 1400 km altitude consisting of maps of the major constituent are also reported.

  10. Cleft lip repair - series (image)

    MedlinePlus

    ... in the middle of the upper lip. A cleft palate is an opening in the roof of the ... Cleft lip repair and cleft palate repair are indicated for: Repair of physical deformity Nursing, feeding, or speech problems resulting from cleft lip or palate

  11. Cleft-orthognathic surgery.

    PubMed

    Posnick, Jeffrey C; Ricalde, Pat

    2004-04-01

    For the cleft patient presenting in adolescence with a jaw discrepancy and malocclusion, misinformation and limited available surgical and dental expertise often prevents a favorable facial reconstruction and dental rehabilitation. A major advantage of the modified Le Fort I osteotomy is its ability to simultaneously close cleft dental gap(s), resolve oronasal fistulas, manage skeletal defects, stabilize dentoalveolar segments, and correct jaw deformities. When a thoughtful staging of reconstruction is undertaken, individuals born with cleft lip and palate can reach adolescence after undergoing only a limited number of operations and interventions, without negative attention being drawn to their original malformation. PMID:15145672

  12. Molecular contribution to cleft palate production in cleft lip mice.

    PubMed

    Sasaki, Yasunori; Taya, Yuji; Saito, Kan; Fujita, Kazuya; Aoba, Takaaki; Fujiwara, Taku

    2014-05-01

    Cleft palate following cleft lip may include a developmental disorder during palatogenesis. CL/Fr mice fetuses, which develop cleft lip and palate spontaneously, have less capability for in vivo cell proliferation in palatal mesenchyme compared with CL/Fr normal fetuses. In order to know the changes of signaling molecules contributing to cleft palate morphogenesis following cleft lip, the mRNA expression profiles were compared in palatal shelves oriented vertically (before elevation) in CL/Fr fetuses with or without cleft lip. The changes in mRNA profile of cleft palate morphogenesis were presented in a microarray analysis, and genes were restricted to lists contributing to cleft palate development in CL/Fr fetuses with cleft lip. Four candidate genes (Ywhab, Nek2, Tacc1 and Frk) were linked in a gene network that associates with cell proliferation (cell cycle, MAPK, Wnt and Tgf beta pathways). Quantitative real-time RT-PCR highlighted the candidate genes that significantly changed in CL/Fr fetuses with cleft lip (Ywhab, Nek2 and Tacc1). The results of these molecular contributions will provide useful information for a better understanding of palatogenesis in cleft palate following cleft lip. Our data indicated the genetic contribution to cleft palate morphogenesis following cleft lip. PMID:24206222

  13. Molecular contribution to cleft palate production in cleft lip mice

    PubMed Central

    Sasaki, Yasunori; Taya, Yuji; Saito, Kan; Fujita, Kazuya; Aoba, Takaaki; Fujiwara, Taku

    2014-01-01

    Cleft palate following cleft lip may include a developmental disorder during palatogenesis. CL/Fr mice fetuses, which develop cleft lip and palate spontaneously, have less capability for in vivo cell proliferation in palatal mesenchyme compared with CL/Fr normal fetuses. In order to know the changes of signaling molecules contributing to cleft palate morphogenesis following cleft lip, the mRNA expression profiles were compared in palatal shelves oriented vertically (before elevation) in CL/Fr fetuses with or without cleft lip. The changes in mRNA profile of cleft palate morphogenesis were presented in a microarray analysis, and genes were restricted to lists contributing to cleft palate development in CL/Fr fetuses with cleft lip. Four candidate genes (Ywhab, Nek2, Tacc1 and Frk) were linked in a gene network that associates with cell proliferation (cell cycle, MAPK, Wnt and Tgf beta pathways). Quantitative real-time RT-PCR highlighted the candidate genes that significantly changed in CL/Fr fetuses with cleft lip (Ywhab, Nek2 and Tacc1). The results of these molecular contributions will provide useful information for a better understanding of palatogenesis in cleft palate following cleft lip. Our data indicated the genetic contribution to cleft palate morphogenesis following cleft lip. PMID:24206222

  14. Management of Midline Facial Clefts.

    PubMed

    Mishra, Sobhan; Sabhlok, Samrat; Panda, Pankaj Kumar; Khatri, Isha

    2015-12-01

    Median or midline facial clefts are rare anomalies of developmental origin, etiology of whose occurrence is still unknown precisely. The most basic presentation of midline facial clefts is in the form of a Median cleft lip which is defined as any congenital vertical cleft through the centre of the upper lip. First described by Bechard in 1823, it is the most common amongst all atypical clefts reported. The incidence is about 1:10,00,000 births. This may occur as a sporadic event or as a part of an inherited sequence of anomalies. It arises embryologically from incomplete fusion of the medial nasal prominences. The authors present a series of eight cases with varying degrees of midline facial clefts. This review article aims to give a broad idea on the various classifications used for further understanding of midline facial clefts and a brief idea about the various surgical management techniques used in the repair of these facial clefts. PMID:26604459

  15. Congenital Midline Cervical Cleft

    PubMed Central

    Villanueva-Meyer, Javier; Glastonbury, Christine; Marcovici, Peter

    2015-01-01

    Congenital midline cervical cleft is a rare anomaly that typically presents in the neonatal period as a thin suprasternal vertical band of erythematous skin with a nipple-like projection superiorly, which may exude fluid. We present the clinical and pathophysiologic features and the imaging findings of this uncommon, and rarely described entity in a newborn girl. PMID:25926928

  16. Closing the cleft over a throbbing heart: neonatal sternal cleft

    PubMed Central

    J, Ashok Raja; G, Mathevan; K, Mathiarasan; P, Ramasubramaniam

    2014-01-01

    Sternal cleft is a rare anomaly comprising 0.5% of chest wall malformations. We present a case of a neonate with a ‘V’-shaped upper partial sternal cleft at birth. A hyperpigmented cutaneous nevi was present over the cleft. Primary approximation and closure of the defect was performed at 1 week of life. We discuss the presentation and management, and review the literature. PMID:25100810

  17. Congenital midline cervical cleft.

    PubMed

    Agag, Richard; Sacks, Justin; Silver, Lester

    2007-01-01

    Congenital midline cervical cleft (CMCC) is a rare disorder of the ventral neck that is clinically evident at birth and must be differentiated from the more common thyroglossal duct cyst. The case of CMCC presented here was associated with chromosomes 13/14 de novo Robertsonian translocations as well as midline deformities including a sacral tuft and a minor tongue-tie. The case is presented as well as discussion of histopathology, embryology, and surgical treatment. PMID:17214531

  18. Clefting in pumpkin balloons

    NASA Astrophysics Data System (ADS)

    Baginski, F.; Schur, W.

    NASA's effort to develop a large payload, high altitude, long duration balloon, the Ultra Long Duration Balloon, focuses on a pumpkin shape super-pressure design. It has been observed that a pumpkin balloon may be unable to pressurize into the desired cyclically symmetric equilibrium configuration, settling into a distorted, undesired stable state instead. Hoop stress considerations in the pumpkin design leads to choosing the lowest possible bulge radius, while robust deployment is favored by a large bulge radius. Some qualitative understanding of design aspects on undesired equilibria in pumpkin balloons has been obtained via small-scale balloon testing. Poorly deploying balloons have clefts, but most gores away from the cleft deploy uniformly. In this paper, we present models for pumpkin balloons with clefts. Long term success of the pumpkin balloon for NASA requires a thorough understanding of the phenomenon of multiple stable equilibria and means for quantitative assessment of measures that prevent their occurrence. This paper attempts to determine numerical thresholds of design parameters that distinguish between properly deploying designs and improperly deploying designs by analytically investigating designs in the vicinity of criticality. Design elements which may trigger the onset undesired equilibria and remedial measures that ensure deployment are discussed.

  19. Genetic Factors and Orofacial Clefting

    PubMed Central

    Lidral, Andrew C.; Moreno, Lina M.; Bullard, Steven A.

    2008-01-01

    Cleft lip with or without cleft palate is the most common facial birth defect and it is caused by a complex interaction between genetic and environmental factors. The purpose of this review is to provide an overview of the spectrum of the genetic causes for cleft lip and cleft palate using both syndromic and nonsyndromic forms of clefting as examples. Although the gene identification process for orofacial clefting in humans is in the early stages, the pace is rapidly accelerating. Recently, several genes have been identified that have a combined role in up to 20% of all clefts. While this is a significant step forward, it is apparent that additional cleft causing genes have yet to be identified. Ongoing human genome-wide linkage studies have identified regions in the genome that likely contain genes that when mutated cause orofacial clefting, including a major gene on chromosome 9 that is positive in multiple racial groups. Currently, efforts are focused to identify which genes are mutated in these regions. In addition, parallel studies are also evaluating genes involved in environmental pathways. Furthermore, statistical geneticists are developing new methods to characterize both gene-gene and gene-environment interactions to build better models for pathogenesis of this common birth defect. The ultimate goal of these studies is to provide knowledge for more accurate risk counseling and the development of preventive therapies. PMID:19492008

  20. Lip Prints and Inheritance of Cleft Lip and Cleft Palate

    PubMed Central

    CJ, Manasa Ravath; HC, Girish; Hegde, Ramesh B; JK, Savita

    2014-01-01

    Background: Labial mucosa has elevations and depressions forming a pattern called ‘Lip Prints’. Parents of patients with cleft lip &/or palate are known to have a particular lip print pattern. Objectives: Analysis of lip prints and relationship between Cheiloscopy and inheritance of cleft lip &/or cleft palate. Methodology: The study included 100 subjects [study groupparents with children having cleft lip &/or cleft palate, 50 fathers and 50 mothers) and 50 subjects (control group-parents having children without cleft lip &/or cleft palate, 25 fathers and 25 mothers. The lip prints of the subjects were obtained using the cellophane method and analysed using Suzuki & Tsuchihashi classification of lip prints. The data was subjected to Chi- Square test, Fisher Exact test and Student t-test [two tailed, independent]. Results: A new whorl pattern was present in the study group. The groove count was higher in the fathers’ than in the mothers’ prints in the upper lip and vice versa in the lower lip. Conclusion: The new pattern was present in the study group in a significant number of cases. The groove count was significantly high in the study group. These two parameters can be of significant value to similar future studies. PMID:25177633

  1. CLEFT PALATE. FOUNDATIONS OF SPEECH PATHOLOGY SERIES.

    ERIC Educational Resources Information Center

    RUTHERFORD, DAVID; WESTLAKE, HAROLD

    DESIGNED TO PROVIDE AN ESSENTIAL CORE OF INFORMATION, THIS BOOK TREATS NORMAL AND ABNORMAL DEVELOPMENT, STRUCTURE, AND FUNCTION OF THE LIPS AND PALATE AND THEIR RELATIONSHIPS TO CLEFT LIP AND CLEFT PALATE SPEECH. PROBLEMS OF PERSONAL AND SOCIAL ADJUSTMENT, HEARING, AND SPEECH IN CLEFT LIP OR CLEFT PALATE INDIVIDUALS ARE DISCUSSED. NASAL RESONANCE…

  2. Molecular basis of cleft palates in mice

    PubMed Central

    Funato, Noriko; Nakamura, Masataka; Yanagisawa, Hiromi

    2015-01-01

    Cleft palate, including complete or incomplete cleft palates, soft palate clefts, and submucosal cleft palates, is the most frequent congenital craniofacial anomaly in humans. Multifactorial conditions, including genetic and environmental factors, induce the formation of cleft palates. The process of palatogenesis is temporospatially regulated by transcription factors, growth factors, extracellular matrix proteins, and membranous molecules; a single ablation of these molecules can result in a cleft palate in vivo. Studies on knockout mice were reviewed in order to identify genetic errors that lead to cleft palates. In this review, we systematically describe these mutant mice and discuss the molecular mechanisms of palatogenesis. PMID:26322171

  3. Management of the alveolar cleft.

    PubMed

    Santiago, Pedro E; Schuster, Lindsay A; Levy-Bercowski, Daniel

    2014-04-01

    Orthopedic and orthodontic management of patients born with clefts of the lip, alveolus and palate is based on the application of basic biomechanical principles adapted to the individualized cleft anatomy. This article focuses on orthopedic and orthodontic preparation for 2 stages of interdisciplinary orthodontic/surgical cleft care: presurgical infant orthopedics (nasoalveolar molding) for lip/alveolus/nasal surgical repair and maxillary arch preparation for secondary alveolar bone grafting. These preparatory stages of orthopedic/orthodontic therapy are undertaken with the goal of restoring normal anatomic relationships to assist the surgeon in providing the best possible surgical care. PMID:24607190

  4. Low resolution X-ray structure of γ-glutamyltranspeptidase from Bacillus licheniformis: opened active site cleft and a cluster of acid residues potentially involved in the recognition of a metal ion.

    PubMed

    Lin, Long-Liu; Chen, Yi-Yu; Chi, Meng-Chun; Merlino, Antonello

    2014-09-01

    γ-Glutamyltranspeptidases (γ-GTs) cleave the γ-glutamyl amide bond of glutathione and transfer the released γ-glutamyl group to water (hydrolysis) or acceptor amino acids (transpeptidation). These ubiquitous enzymes play a key role in the biosynthesis and degradation of glutathione, and in xenobiotic detoxification. Here we report the 3Å resolution crystal structure of Bacillus licheniformis γ-GT (BlGT) and that of its complex with l-Glu. X-ray structures confirm that BlGT belongs to the N-terminal nucleophilic hydrolase superfamily and reveal that the protein possesses an opened active site cleft similar to that reported for the homologous enzyme from Bacillus subtilis, but different from those observed for human γ-GT and for γ-GTs from other microorganisms. Data suggest that the binding of l-Glu induces a reordering of the C-terminal tail of BlGT large subunit and allow the identification of a cluster of acid residues that are potentially involved in the recognition of a metal ion. The role of these residues on the conformational stability of BlGT has been studied by characterizing the autoprocessing, enzymatic activity, chemical and thermal denaturation of four new Ala single mutants. The results show that replacement of Asp568 with an Ala affects both the autoprocessing and structural stability of the protein. PMID:24780583

  5. The Intraprofessional Continuum and Cleft.

    PubMed

    Jensen, Clyde B

    2016-08-01

    The continuum cleft is a costly and precarious gap that divides professions on the health professions' continuum. It is an interprofessional phenomenon that is encouraged because health care professions protect their members in professional silos and isolate competing professions in professional cysts. This article uses case studies of the allopathic, osteopathic, naturopathic, and chiropractic professions to contemplate the existence, consequences, and possible mitigation of intraprofessional silos, cysts, and clefts. PMID:27574493

  6. IRF6 Sequencing in Interrupted Clefting.

    PubMed

    Cuddapah, Sanmati R; Kominek, Selma; Grant, John H; Robin, Nathaniel H

    2016-05-01

    In a retrospective review of patients seen at the University of Alabama at Birmingham Cleft and Craniofacial Center, four patients with rare interrupted clefting were identified who had undergone genetic testing. Each of these patients had a typical cleft lip, with intact hard palate and cleft of the soft palate. Given this picture of mixed clefting, IRF6 sequencing was done and was negative for mutations in all four patients. As genetic testing for single-gene mutations and exome sequencing become clinically available, it may be possible to identify novel mutations responsible for this previously unreported type of interrupted clefting. PMID:26090788

  7. Bright Promise for Your Child with Cleft Lip and Cleft Palate. Revised Edition.

    ERIC Educational Resources Information Center

    McDonald, Eugene T.; Berlin, Asa J.

    Intended for parents of children with cleft lip and cleft palate, the booklet provides an overview of the condition. Addressed are the following topics (sample subtopics in parentheses): prenatal development and birth defects (facial development); possible causes of cleft lip/cleft palate (common misconceptions, genetic factors, environmental…

  8. Intrasphenoidal rathke cleft cyst.

    PubMed

    Megdiche-Bazarbacha, H; Ben Hammouda, K; Aicha, A B; Sebai, R; Belghith, L; Khaldi, M; Touibi, S

    2006-05-01

    Symptomatic Rathke cleft cysts (RCC) are reported in the sellar and suprasellar regions, but no case of sphenoidal RCC has been reported. We report a case of sphenoidal RCC in a 41-year-old man. The lesion was revealed by headaches and diplopia. Symptoms disappeared transiently after a spontaneous rhinorrhea but relapsed 4 months later. MR imaging showed a cystic sphenoidal lesion, isointense on T1-weighted images (WI) with peripheral gadolinium enhancement and hyperintense on T2 WI. The patient underwent surgery through a transrhinoseptal approach. The wall of the sphenoid sinus was paper-thin. The cyst contained a motor-oil-like fluid and communicated widely with the nasal fossa. Its wall was partially extracted. Symptoms and signs ceased after surgery. MR imaging performed 1 year later showed the disappearance of the sphenoidal cyst. Embryological origin of RCCs is discussed. The hypothesis of a continuum between the different epithelial cystic lesions of the sellar and parasellar region is discussed. Imaging has an important impact on the diagnosis; nevertheless, the specific characterization remains difficult. PMID:16687551

  9. 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 ...

  10. Ion mass spectrometer experiment for ISIS-2 spacecraft

    NASA Astrophysics Data System (ADS)

    Hoffman, John H.

    1987-07-01

    The International Satellite for Ionospheric Studies (ISIS) program of NASA was the longest duration program in NASA history. A number of satellites were flown under this program, the last being called ISIS-2, which was launched on April 1, 1971 and operated successfully for over 13 years. An experiment called the Ion Mass Spectrometer (IMS) was flown on the ISIS-2 spacecraft. It operated for 10 years providing a large data base of positive ion composition and ion flow velocities along the orbit of the satellite, the latter being circular at 1400 km with a 90 degree inclination. The data were processed and reside in the National Space Sciences Data Center.

  11. Ion mass spectrometer experiment for ISIS-2 spacecraft

    NASA Technical Reports Server (NTRS)

    Hoffman, John H.

    1987-01-01

    The International Satellite for Ionospheric Studies (ISIS) program of NASA was the longest duration program in NASA history. A number of satellites were flown under this program, the last being called ISIS-2, which was launched on April 1, 1971 and operated successfully for over 13 years. An experiment called the Ion Mass Spectrometer (IMS) was flown on the ISIS-2 spacecraft. It operated for 10 years providing a large data base of positive ion composition and ion flow velocities along the orbit of the satellite, the latter being circular at 1400 km with a 90 degree inclination. The data were processed and reside in the National Space Sciences Data Center.

  12. Cleft lip: The historical perspective.

    PubMed

    Bhattacharya, S; Khanna, V; Kohli, R

    2009-10-01

    The earliest documented history of cleft lip is based on a combination of religion, superstition, invention and charlatanism. While Greeks ignored their existence, Spartans and Romans would kill these children as they were considered to harbour evil spirits. When saner senses prevailed Fabricius ab Aquapendente (1537-1619) was the first to suggest the embryological basis of these clefts. The knowledge of cleft lip and the surgical correction received a big boost during the period between the Renaissance and the 19th century with the publication of Pierre Franco's Petit Traite and Traite des Hernies in which he described the condition as "lievre fendu de nativite" (cleft lip present from birth). The first documented Cleft lip surgery is from China in 390 BC in an 18 year old would be soldier, Wey Young-Chi. Albucasis of Arabia and his fellow surgeons used the cautery instead of the scalpel and Yperman in 1854 recommended scarifying the margins with a scalpel before suturing them with a triangular needle dipped in wax. The repair was reinforced by passing a long needle through the two sides of the lip and fixing the shaft of the needle with a figure-of-eight thread over the lip. Germanicus Mirault can be credited to be the originator of the triangular flap which was later modified by C.W. Tennison in 1952 and Peter Randall in 1959. In the late 50s, Ralph Millard gave us his legendary 'cut as you go' technique. The protruding premaxilla of a bilateral cleft lip too has seen many changes throughout the ages - from being discarded totally to being pushed back by wedge resection of vomer to finally being left to the orthodontists. PMID:19884680

  13. Oral cleft prevention program (OCPP)

    PubMed Central

    2012-01-01

    Background Oral clefts are one of the most common birth defects with significant medical, psychosocial, and economic ramifications. Oral clefts have a complex etiology with genetic and environmental risk factors. There are suggestive results for decreased risks of cleft occurrence and recurrence with folic acid supplements taken at preconception and during pregnancy with a stronger evidence for higher than lower doses in preventing recurrence. Yet previous studies have suffered from considerable design limitations particularly non-randomization into treatment. There is also well-documented effectiveness for folic acid in preventing neural tube defect occurrence at 0.4 mg and recurrence with 4 mg. Given the substantial burden of clefting on the individual and the family and the supportive data for the effectiveness of folic acid supplementation as well as its low cost, a randomized clinical trial of the effectiveness of high versus low dose folic acid for prevention of cleft recurrence is warranted. Methods/design This study will assess the effect of 4 mg and 0.4 mg doses of folic acid, taken on a daily basis during preconception and up to 3 months of pregnancy by women who are at risk of having a child with nonsyndromic cleft lip with/without palate (NSCL/P), on the recurrence of NSCL/P. The total sample will include about 6,000 women (that either have NSCL/P or that have at least one child with NSCL/P) randomly assigned to the 4 mg and the 0.4 mg folic acid study groups. The study will also compare the recurrence rates of NSCL/P in the total sample of subjects, as well as the two study groups (4mg, 0.4 mg) to that of a historical control group. The study has been approved by IRBs (ethics committees) of all involved sites. Results will be disseminated through publications and presentations at scientific meetings. Discussion The costs related to oral clefts are high, including long term psychological and socio-economic effects. This study provides an opportunity for

  14. How to Feed Cleft Patient?

    PubMed Central

    Khan, Saima Yunus

    2013-01-01

    ABSTRACT Cleft lip and palate patients have all rights like other normal individuals, to enjoy the benefits of nourishment. Knowledge has to be there about the different feeding positions like straddle, dancer hand position along with the use of specially designed bottles and nipples. Parent's should be trained about the correct positions of feeding, in extreme of the cases in which parents are not able to follow these instructions, feeding obturators can be given. How to cite this article: Jindal MK, Khan SY. How to Feed Cleft Patient? Int J Clin Pediatr Dent 2013;6(2):100-103. PMID:25206201

  15. Simulating clefts in pumpkin balloons

    NASA Astrophysics Data System (ADS)

    Baginski, Frank; Brakke, Kenneth

    2010-02-01

    The geometry of a large axisymmetric balloon with positive differential pressure, such as a sphere, leads to very high film stresses. These stresses can be significantly reduced by using a tendon re-enforced lobed pumpkin-like shape. A number of schemes have been proposed to achieve a cyclically symmetric pumpkin shape, including the constant bulge angle (CBA) design, the constant bulge radius (CBR) design, CBA/CBR hybrids, and NASA’s recent constant stress (CS) design. Utilizing a hybrid CBA/CBR pumpkin design, Flight 555-NT in June 2006 formed an S-cleft and was unable to fully deploy. In order to better understand the S-cleft phenomenon, a series of inflation tests involving four 27-m diameter 200-gore pumpkin balloons were conducted in 2007. One of the test vehicles was a 1/3-scale mockup of the Flight 555-NT balloon. Using an inflation procedure intended to mimic ascent, the 1/3-scale mockup developed an S-cleft feature strikingly similar to the one observed in Flight 555-NT. Our analysis of the 1/3-scale mockup found it to be unstable. We compute asymmetric equilibrium configurations of this balloon, including shapes with an S-cleft feature.

  16. Laryngo-tracheo-oesophageal clefts

    PubMed Central

    2011-01-01

    A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus. The estimated annual incidence of LC is 1/10,000 to 1/20,000 live births, accounting for 0.2% to 1.5% of congenital malformations of the larynx. These incidence rates may however be underestimated due to difficulty in diagnosing minor forms and a high mortality rate in severe forms. A slightly higher incidence has been reported in boys than in girls. No specific geographic distribution has been found. Depending on the severity of the malformation, patients may present with stridor, hoarse cry, swallowing difficulties, aspirations, cough, dyspnea and cyanosis through to early respiratory distress. Five types of laryngo-tracheo-esophageal cleft have been described based on the downward extension of the cleft, which typically correlates with the severity of symptoms: Type 0 laryngo-tracheo-esophageal cleft to Type 4 laryngo-tracheo-esophageal cleft. LC is often associated with other congenital abnormalities/anomalies (16% to 68%), mainly involving the gastro-intestinal tract, which include laryngomalacia, tracheo-bronchial dyskinesia, tracheo-bronchomalacia (mostly in types 3 and 4), and gastro-esophageal reflux disease (GERD). The syndromes most frequently associated with an LC are Opitz/BBB syndrome, Pallister Hall syndrome, VACTERL/VATER association, and CHARGE syndrome. Laryngeal clefts result from failure of fusion of the posterior cricoid lamina and abnormal development of the tracheo-esophageal septum. The causes of the embryological developmental anomalies leading to LC are not known but are thought to be multifactorial. LC appears to be mostly sporadic although some familial cases with suspected autosomal dominant transmission have been reported. The age of diagnosis depends mainly on the severity of the clinical symptoms and

  17. Face facts: Genes, environment, and clefts

    SciTech Connect

    Murray, J.C.

    1995-08-01

    Cleft lip and/or palate provides an ideal, albeit complex, model for the study of human developmental anomalies. Clefting disorders show a mix of well-defined syndromic causes (many with single-gene or environmental etiologies) coupled with their more common presentation in the nonsyndromic form. This summary presents some insight into the genetic causes of, etiology of and animal models for cleft lip and/or palate. 79 refs.

  18. A Model Humanitarian Cleft Mission: 312 Cleft Surgeries in 7 Days

    PubMed Central

    Gill, Nauman Ahmad; Ishaq, Irfan; Ganatra, Muhammad Ashraf; Mahmood, Farrakh; Kashif, Muhammad; Alam, Iftikhar; Chen, Philip Kuo-Ting; Lo, Lun-Jou; Laub, Donald Rudolph

    2015-01-01

    Background: There are many countries in the world where patients with cleft lip and palate cannot get access to specialized cleft care units. Cleft missions play an important role in providing surgical care to the areas of the world with limited resources. This article presents a model of cleft missions that can be adopted in many countries where expertise is available but resources are limited. Through proper utilization of local human resource, this type of mission can be a cost-effective and robust way of treating patients with cleft in countries with approximately 52% of the world’s population. Methods: We present a case series of patients of one of our cleft missions carried out in Khairpur, Pakistan, in March 2014 over a period of 7 days. Specific details concerning the organization of mission, gathering of patients, preparation for surgery, and carrying out surgical procedures in a safe and swift manner are presented. Results: A total of 312 patients were operated on in 7 days. There were 145 patients with cleft lip and 167 patients with cleft palate. There were 187 male and 125 female patients with mean age of 7 years. Contemporary operative techniques were utilized to repair different types of cleft lip and palate. Of 167 patients, only 16 developed fistula. Conclusion: A locoregional cleft team can be more effective to care for the patients with cleft in countries where surgical and other expertise can be utilized by proper organization of cleft missions on a national level. PMID:25878924

  19. Cleft Lip and Cleft Palate--What to Know and Who Can Help

    ERIC Educational Resources Information Center

    Apel, Laura

    2008-01-01

    Craniofacial defects such as cleft lip and cleft palate are among the most common of all birth defects in the United States, with one in every 600 newborns affected. Cleft lip and/or palate can occur as an isolated condition or may be one component of an inherited disease or syndrome. Dealing with the condition is an extremely difficult and…

  20. Improving Informed Consent for Cleft Palate Repair

    ClinicalTrials.gov

    2015-11-02

    Cleft Palate; Jaw Abnormalities; Maxillofacial Abnormalities; Mouth Abnormalities; Congenital Abnormalities; Jaw Diseases; Musculoskeletal Diseases; Craniofacial Abnormalities; Musculoskeletal Abnormalities; Stomatognathic Diseases; Stomatognathic System Abnormalities

  1. Periodontal Status Among Patients With Cleft Lip (CL), Cleft Palate (CP) and Cleft Lip, Alveolus and Palate (CLAP) In Chennai, India. A Comparative Study

    PubMed Central

    John, Joseph

    2015-01-01

    Background: Long term health of the stomatognathic system as well as esthetic aspects is the therapeutic goals in patients with oro facial clefts. Aim: The aim of this study was to assess and compare the periodontal status of patients with cleft lip (CL), cleft palate (CP) and cleft lip, alveolus and palate (CLAP) reporting to a hospital in Chennai, India. Materials and Methods: The study group consisted of 80 cleft patients. Subjects were divided into three groups. Group 1: patients with cleft lip (CL), Group 2: subjects with cleft palate (CP) and Group 3: subjects with cleft lip alveolus and palate (CLAP). Community Periodontal Index for Treatment needs CPITN Index was recorded. Results: Among the 80 study subjects, 51 (63.8%) were males and 29 (36.2%) were females. Among the 26 study subjects with cleft lip, 10 (38.5%) had healthy periodontium, 4 (15.4%) had bleeding on probing and 12 (46.1%) had calculus. Mean number of sextants coded for healthy and bleeding was maximum among the subjects with cleft palate. Mean number of sextants coded for calculus was maximum among the subjects with cleft lip alveolus and palate. Prevalence of periodontal disease is high among patients with cleft lip, alveolus and palate (35%) than in Cleft lip (32.5%) and Cleft Palate (32.5%). Conclusion: Gingivitis and Calculus is predominantly high in patients with Cleft Palate and Cleft Lip respectively. PMID:25954706

  2. Cleft Ion Fountain Energization Region: SCIFER

    NASA Technical Reports Server (NTRS)

    Arnoldy, Roger L.

    1997-01-01

    The SCIFER rocket was successfully launched from the Andoya Rocket Range on January 25, 1995. All of the UNH science experiments worked very well and a suite of first ever rocket data in the dayside cusp at altitudes over 1000 km was obtained. This work resulted in the following publications and presentations to the scientific community.

  3. Reliability of esthetic ratings of cleft impairment.

    PubMed

    Tobiasen, J M; Hiebert, J M

    1988-07-01

    The decision to seek secondary treatment for facial clefts is often the result of concerns about the esthetic acceptability of appearance. There are no standard techniques to assess cleft impairment for esthetic acceptability. Therefore, it is not possible to evaluate objectively either the need for or the benefits of treatment. If it could be shown that people agree closely on how they rate the esthetic appearance of cleft impairments that vary in severity, then esthetic measures of cleft impairment could be developed with human judgment as the yardstick. The goals of this study were: (1) to examine the reliability with which children express their preferences for cleft impairments that vary in severity, (2) to determine if other facial characteristics influence the reliability of children's preferences for cleft impairments, and (3) to evaluate if age and gender of children influence preferences for cleft impairments. Based on preratings, eight types of photographic slides were created that varied in severity of cleft impairment and global facial attractiveness. A second sample of subjects then rated the slides on the esthetic acceptability of appearance. Children ranked the photographic types consistently. They least preferred the photographic types depicting severe impairment or low facial attractiveness, or both, and most preferred faces with no impairment or moderate attractiveness, or both. There were also developmental effects in that younger children tended to have less consensus in their ratings of appearance than older children. Finally, boys displayed greater consensus than girls. PMID:3168276

  4. Radar and satellite observations of the storm time cleft

    SciTech Connect

    Yeh, H.C.; Foster, J.C.; Holt, J.M.; Redus, R.H.; Rich, F.J.

    1990-08-01

    During the magnetic storm of February 8-9, 1986, the region of strong ion convection in the vicinity of the dayside cusp expanded equatorward into the field of view of the Millstone Hill radar at lower mid-latitudes. High-speed (>1.5 km/s) poleward ion flows were found at latitudes as low as 60 deg invariant latitude, at least 10 deg lower than the typical cleft/cusp position for moderately disturbed (Kp>4) magnetospheric conditions. The ion velocity pattern responded promptly to changes in the interplanetary magnetic field By direction. The large-scale two-dimensional convection pattern across the dayside was well resolved using radar azimuth scan data at Millstone Hill, thus enabling us to place the fine-scale radar/satellite observations of the storm time cusp and cleft in the context of the large-scale pattern. We present a detailed comparison of radar and DMSP F7 satellite observations in the prenoon sector during a period of Kp > 7, to examine the low-altitude signatures of various plasma regions in the vicinity of the cusp. The combination of particle precipitation, magnetic field perturbation, radar measurements of ion heating, and convection consistently suggests the unusual low-latitude position of cusp at 65 invariant latitude.

  5. International Task Force on Volunteer Cleft Missions.

    PubMed

    Yeow, Vincent K L; Lee, Seng-Teik T; Lambrecht, Thomas J; Barnett, John; Gorney, Mark; Hardjowasito, Widanto; Lemperle, Gottfried; McComb, Harold; Natsume, Nagato; Stranc, Mirek; Wilson, Libby

    2002-01-01

    The International Task Force on Volunteer Cleft Missions was set up to provide a report to be presented at the Eighth International Congress of Cleft Palate and Associated Craniofacial Anomalies on September 12, 1997, in Singapore. The aim of the report was to provide data from a wide range of different international teams performing volunteer cleft missions and, thereafter, based on the collected data, to identify common goals and aims of such missions. Thirteen different groups actively participating in volunteer cleft missions worldwide were selected from the International Confederation of Plastic and Reconstructive Surgery's list of teams actively participating in volunteer cleft missions. Because of the time frame within which the committee had to work, three groups that did not respond by the stipulated deadline were omitted from the committee. The represented members and their respective institutions have undertaken more than 50 volunteer cleft missions to underdeveloped nations worldwide within the last 3 years. They have visited over 20 different countries, treating more than 3,500 patients worldwide. Based on the data collected and by consensus, the committee outlined recommendations for future volunteer cleft missions based on 1) mission objectives, 2) organization, 3) personal health and liability, 4) funding, 5) trainees in volunteer cleft missions, and 6) public relations. The task force believed that all volunteer cleft missions should have well-defined objectives, preferably with long-term plans. The task force also decided that it was impossible to achieve a successful mission without good organization and close coordination. All efforts should be made, and care taken, to ensure that there is minimal morbidity and no mortality. Finally, as ambassadors of goodwill and humanitarian aid, the participants must make every effort to understand and respect local customs and protocol. The main aims are to provide top-quality surgical service, train local

  6. Ambulatory cleft lip surgery: A value analysis

    PubMed Central

    Arneja, Jugpal S; Mitton, Craig

    2013-01-01

    BACKGROUND: Socialized health systems face fiscal constraints due to a limited supply of resources and few reliable ways to control patient demand. Some form of prioritization must occur as to what services to offer and which programs to fund. A data-driven approach to decision making that incorporates outcomes, including safety and quality, in the setting of fiscal prudence is required. A value model championed by Michael Porter encompasses these parameters, in which value is defined as outcomes divided by cost. OBJECTIVES: To assess ambulatory cleft lip surgery from a quality and safety perspective, and to assess the costs associated with ambulatory cleft lip surgery in North America. Conclusions will be drawn as to how the overall value of cleft lip surgery may be enhanced. METHODS: A value analysis of published articles related to ambulatory cleft lip repair over the past 30 years was performed to determine what percentage of patients would be candidates for ambulatory cleft lip repair from a quality and safety perspective. An economic model was constructed based on costs associated with the inpatient stay related to cleft lip repair. RESULTS: On analysis of the published reports in the literature, a minority (28%) of patients are currently discharged in an ambulatory fashion following cleft lip repair. Further analysis suggests that 88.9% of patients would be safe candidates for same-day discharge. From an economic perspective, the mean cost per patient for the overnight admission component of ambulatory cleft surgery to the health care system in the United States was USD$2,390 and $1,800 in Canada. CONCLUSIONS: The present analysis reviewed germane publications over a 30-year period, ultimately suggesting that ambulatory cleft lip surgery results in preservation of quality and safety metrics for most patients. The financial model illustrates a potential cost saving through the adoption of such a practice change. For appropriately selected patients, ambulatory

  7. Review of secondary alveolar cleft repair

    PubMed Central

    Cho-Lee, Gui-Youn; García-Díez, Eloy-Miguel; Nunes, Richard-Agostinho; Martí-Pagès, Carles; Sieira-Gil, Ramón; Rivera-Baró, Alejandro

    2013-01-01

    Introduction: The alveolar cleft is a bony defect that is present in 75% of the patients with cleft lip and palate. Although secondary alveolar cleft repair is commonly accepted for these patients, nowadays, controversy still remains regarding the surgical technique, the timing of the surgery, the donor site, and whether the use of allogenic materials improve the outcomes. The purpose of the present review was to evaluate the protocol, the surgical technique and the outcomes in a large population of patients with alveolar clefts that underwent secondary alveolar cleft repair. Materials and Methods: A total of 109 procedures in 90 patients with alveolar cleft were identified retrospectively after institutional review board approval was obtained. The patients were treated at a single institution during a period of 10 years (2001-2011). Data were collected regarding demographics, type of cleft, success parameters of the procedure (oronasal fistulae closure, unification of the maxillary segments, eruption and support of anterior teeth, support to the base of the nose, normal ridge form for prosthetic rehabilitation), donor site morbidity, and complications. Pre- and postoperative radiological examination was performed by means of orthopantomogram and computed tomography (CT) scan. Results: The average patient age was 14.2 years (range 4–21.3 years). There were 4 right alveolar-lip clefts, 9 left alveolar-lip clefts, 3 bilateral alveolar-lip clefts, 18 right palate-lip clefts, 40 left palate-lip clefts and 16 bilateral palate-lip clefts. All the success parameters were favorable in 87 patients. Iliac crest bone grafts were employed in all cases. There were three bone graft losses. In three cases, allogenic materials used in a first surgery performed in other centers, underwent infection and lacked consolidation. They were removed and substituted by autogenous iliac crest bone graft. Conclusions: The use of autogenous iliac crest for secondary alveolar bone grafting

  8. Genetics of Nonsyndromic Orofacial Clefts

    PubMed Central

    Rahimov, Fedik; Jugessur, Astanand; Murray, Jeffrey C.

    2011-01-01

    With an average worldwide prevalence of approximately 1.2/1000 live births, orofacial clefts are the most common craniofacial birth defects in humans. Like other complex disorders, these birth defects are thought to result from the complex interplay of multiple genes and environmental factors. Significant progress in the identification of underlying genes and pathways has benefited from large populations available for study, increased international collaboration, rapid advances in genotyping technology, and major improvements in analytic approaches. Here we review recent advances in genetic epidemiological approaches to complex traits and their applications to studies of nonsyndromic orofacial clefts. Our main aim is to bring together a discussion of new and previously identified candidate genes to create a more cohesive picture of interacting pathways that shape the human craniofacial region. In future directions, we highlight the need to search for copy number variants that affect gene dosage and rare variants that are possibly associated with a higher disease penetrance. In addition, sequencing of protein-coding regions in candidate genes and screening for genetic variation in non-coding regulatory elements will help advance this important area of research. PMID:21545302

  9. Implementing the Brazilian Database on Orofacial Clefts

    PubMed Central

    Monlleó, Isabella Lopes; Fontes, Marshall Ítalo Barros; Ribeiro, Erlane Marques; de Souza, Josiane; Leal, Gabriela Ferraz; Félix, Têmis Maria; Fett-Conte, Agnes Cristina; Bueno, Bruna Henrique; Magna, Luis Alberto; Mossey, Peter Anthony; Gil-da Silva-Lopes, Vera

    2013-01-01

    Background. High-quality clinical and genetic descriptions are crucial to improve knowledge of orofacial clefts and support specific healthcare polices. The objective of this study is to discuss the potential and perspectives of the Brazilian Database on Orofacial Clefts. Methods. From 2008 to 2010, clinical and familial information on 370 subjects was collected by geneticists in eight different services. Data was centrally processed using an international system for case classification and coding. Results. Cleft lip with cleft palate amounted to 198 (53.5%), cleft palate to 99 (26.8%), and cleft lip to 73 (19.7%) cases. Parental consanguinity was present in 5.7% and familial history of cleft was present in 26.3% subjects. Rate of associated major plus minor defects was 48% and syndromic cases amounted to 25% of the samples. Conclusions. Overall results corroborate the literature. Adopted tools are user friendly and could be incorporated into routine patient care. The BDOC exemplifies a network for clinical and genetic research. The data may be useful to develop and improve personalized treatment, family planning, and healthcare policies. This experience should be of interest for geneticists, laboratory-based researchers, and clinicians entrusted with OC worldwide. PMID:23577250

  10. Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome)

    PubMed Central

    Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

    2014-01-01

    Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is an autosomal dominant disorder inherited as a genetic trait and characterized by a triad of (i) ectrodactyly, (ii) ectodermal dysplasia and, (iii) & facial clefts. PMID:25737931

  11. Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome).

    PubMed

    Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

    2014-01-01

    Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is an autosomal dominant disorder inherited as a genetic trait and characterized by a triad of (i) ectrodactyly, (ii) ectodermal dysplasia and, (iii) & facial clefts. PMID:25737931

  12. Use of Biphasic Continuous Positive Airway Pressure in Premature Infant with Cleft Lip-Cleft Palate.

    PubMed

    George, Lovya; Jain, Sunil K

    2015-10-01

    Preterm infants (PIs) often require respiratory support due to surfactant deficiency. Early weaning from mechanical ventilation to noninvasive respiratory support decreases ventilation-associated irreversible lung damage. This wean is particularly challenging in PIs with cleft lip and cleft palate due to anatomical difficulties encountered in maintaining an adequate seal for positive pressure ventilation. PI with a cleft lip and palate often fail noninvasive respiratory support and require continued intubation and mechanical ventilation. We are presenting the first case report of a PI with cleft lip and palate who was managed by biphasic nasal continuous positive airway pressure. PMID:26495158

  13. Use of Biphasic Continuous Positive Airway Pressure in Premature Infant with Cleft Lip–Cleft Palate

    PubMed Central

    George, Lovya; Jain, Sunil K.

    2015-01-01

    Preterm infants (PIs) often require respiratory support due to surfactant deficiency. Early weaning from mechanical ventilation to noninvasive respiratory support decreases ventilation-associated irreversible lung damage. This wean is particularly challenging in PIs with cleft lip and cleft palate due to anatomical difficulties encountered in maintaining an adequate seal for positive pressure ventilation. PI with a cleft lip and palate often fail noninvasive respiratory support and require continued intubation and mechanical ventilation. We are presenting the first case report of a PI with cleft lip and palate who was managed by biphasic nasal continuous positive airway pressure. PMID:26495158

  14. Dental anomalies inside the cleft region in individuals with nonsyndromic cleft lip with or without cleft palate

    PubMed Central

    Sá, Jamile; Araújo, Luana; Guimarães, Laís; Maranhão, Samário; Lopes, Gabriela; Medrado, Alena; Coletta, Ricardo

    2016-01-01

    Background Individuals with non syndromic cleft lip with or without cleft palate (NSCL±P) present high frequency of dental anomalies, which may represent complicating factors for dental treatment. The aim of this study was to investigate the prevalence of dental anomalies inside cleft area in a group of Brazilians with NSCL±P. Material and Methods Retrospective analysis of 178 panoramic radiographs of patients aged from 12 to 45 years old and without history of tooth extraction or orthodontic treatment was performed. Association between cleft type and the prevalence of dental anomalies was assessed by chi-square test with a significance level set at p≤ 0.05. Results Dental anomalies were found in 88.2% (n=157) of the patients. Tooth agenesis (47.1%), giroversion (20%) and microdontia (15.5%) were the most common anomalies. Individuals with unilateral complete cleft lip and palate (CLP, p<0.0001), bilateral complete CLP (p=0.0002) and bilateral incomplete CLP (p< 0.0001) were more affected by tooth agenesis than individuals with other cleft types. The maxillary lateral incisors were the most affected teeth (p<0.0001). Conclusions The present study revealed a high frequency of dental anomalies inside cleft region in NSCL±P patients, and further demonstrated that patients with unilateral complete CLP and bilateral incomplete CLP were frequently more affected by dental anomalies. Moreover, our results demonstrate that dental anomalies should be considered during dental treatment planning of individuals affected by NSCL±P. Key words:Nonsyndromic cleft lip with or without palate, dental anomaly, tooth agenesis, microdontia. PMID:26615505

  15. Technique in Cleft Rhinoplasty: The Foundation Graft.

    PubMed

    Gassner, Holger G; Schwan, Franziska; Haubner, Frank; Suárez, Gustavo A; Vielsmeier, Veronika

    2016-04-01

    Secondary cleft rhinoplasty represents a particular surgical challenge. The authors have identified the deficit in skeletal projection of the cleft-sided piriform rim as an important contributor to the pathology. A graft is described to augment the piriform crest on the cleft side. This foundation graft is suture fixated to the piriform crest after complete release of all soft tissue attachments to the alar base. The foundation graft is articulated with a long alar strut graft, which allows for powerful projection of the cleft-sided nasal tip. An advancement flap of vestibular skin is described to correct the vestibular stenosis. A transplant of diced cartilage in fascia is added to augment maxillary soft tissue volume. Subjective and objective measures of form and function are presented in a retrospective series of five cases, illustrating the efficacy of the techniques described. PMID:27097143

  16. Cleft Lip and Palate (For Parents)

    MedlinePlus

    ... and breathing, overbites/underbites, and appearance. Dental and Orthodontic Treatment Maintaining healthy teeth and preventing cavities is ... Kids with cleft lip and palate may begin orthodontic treatment as early as 6 years of age. ...

  17. [Laser navigation guided cleft lip repair].

    PubMed

    Bing, Shi

    2016-06-01

    A new method using the ideal mid-facial line as the navigating reference was introduced to improve the outcome of cleft lip repair. Using the verticle coordinate crossing the middle point of the intercanthus line, surgeons could observe and correct the distortion of the fine structures in labial-nasal area. This laser projecting mid-facial-line navigation was repeatable, while not interfere the operating. In conclusion, generalizing laser navigation is a valuable supplementary for cleft lip repair. PMID:27526442

  18. Preservation of protein clefts in comparative models

    PubMed Central

    Piedra, David; Lois, Sergi; de la Cruz, Xavier

    2008-01-01

    Background Comparative, or homology, modelling of protein structures is the most widely used prediction method when the target protein has homologues of known structure. Given that the quality of a model may vary greatly, several studies have been devoted to identifying the factors that influence modelling results. These studies usually consider the protein as a whole, and only a few provide a separate discussion of the behaviour of biologically relevant features of the protein. Given the value of the latter for many applications, here we extended previous work by analysing the preservation of native protein clefts in homology models. We chose to examine clefts because of their role in protein function/structure, as they are usually the locus of protein-protein interactions, host the enzymes' active site, or, in the case of protein domains, can also be the locus of domain-domain interactions that lead to the structure of the whole protein. Results We studied how the largest cleft of a protein varies in comparative models. To this end, we analysed a set of 53507 homology models that cover the whole sequence identity range, with a special emphasis on medium and low similarities. More precisely we examined how cleft quality – measured using six complementary parameters related to both global shape and local atomic environment, depends on the sequence identity between target and template proteins. In addition to this general analysis, we also explored the impact of a number of factors on cleft quality, and found that the relationship between quality and sequence identity varies depending on cleft rank amongst the set of protein clefts (when ordered according to size), and number of aligned residues. Conclusion We have examined cleft quality in homology models at a range of seq.id. levels. Our results provide a detailed view of how quality is affected by distinct parameters and thus may help the user of comparative modelling to determine the final quality and

  19. Treatment for Adults (with Cleft Lip and Palate)

    MedlinePlus

    ... throat, hearing, dentistry, speech, oral surgery, nursing, and psychology among others. You can obtain the names of ... of the cleft team, particularly the psychologist and social worker. Interaction with other adults with clefts, through ...

  20. Perioperative complications in infant cleft repair

    PubMed Central

    Fillies, Thomas; Homann, Christoph; Meyer, Ulrich; Reich, Alexander; Joos, Ulrich; Werkmeister, Richard

    2007-01-01

    Background Cleft surgery in infants includes special risks due to the kind of the malformation. These risks can be attributed in part to the age and the weight of the patient. Whereas a lot of studies investigated the long-term facial outcome of cleft surgery depending on the age at operation, less is known about the complications arising during a cleft surgery in early infancy. Methods We investigated the incidence and severity of perioperative complications in 174 infants undergoing primary cleft surgery. The severity and the complications were recorded during the intraoperative and the early postoperative period according to the classification by Cohen. Results Our study revealed that minor complications occurred in 50 patients. Severe complications were observed during 13 operations. There was no fatal complication in the perioperative period. The risk of complications was found to be directly correlated to the body weight at the time of the surgery. Most of the problems appeared intraoperatively, but they were also followed by complications immediately after the extubation. Conclusion In conclusion, cleft surgery in infancy is accompanied by frequent and sometimes severe perioperative complications that may be attributed to this special surgical field. PMID:17280602

  1. Correlation of vermilion symmetry to alveolar cleft defect in unilateral cleft lip repair.

    PubMed

    Bonanthaya, K; Rao, D D; Shetty, P; Uguru, C

    2016-06-01

    Asymmetry is a major problem in repaired unilateral cleft lip (UCL). One of the important manifestations of this is the asymmetry of the vermilion. The aim of this study was to correlate the severity of the asymmetry in the vermilion to the size of the alveolar defect. Twenty patients aged between 6 and 18 months with complete unilateral cleft lip, alveolus, and palate were included. An impression of each patient's alveolus at the time of cheiloplasty was taken using silicon rubber base material, and a study cast was prepared. The width of the cleft alveolus was measured on these casts using a transparent grid. Frontal photographs were taken at 6 months postoperative and vermilion symmetry was measured as the ratio between the cleft and non-cleft sides. The results obtained in this study showed a direct correlation between the size of the alveolar defect and the vermilion symmetry in repaired UCL. The wider the cleft alveolus and greater the antero-posterior discrepancy, the greater is the vermilion asymmetry. The asymmetry of the vermilion in UCL after repair is directly dependent on the size of the alveolar defect. The alveolar discrepancy causes 'in-rolling' of the vermilion on the cleft side and affects the vermilion symmetry. PMID:26754270

  2. Spectrographic measures of the speech of young children with cleft lip and cleft palate.

    PubMed

    Casal, C; Domínguez, C; Fernández, A; Sarget, R; Martínez-Celdrán, E; Sentís-Vilalta, J; Gay-Escoda, C

    2002-01-01

    Twenty-two consecutive children with repaired cleft lip and/or palate [isolated cleft lip (CL) 6, isolated cleft palate (CP) 7, unilateral cleft lip and palate (UCLP) 7, and bilateral cleft lip and palate 2] with a mean age of 27 months underwent spectrographic measures of tape-recorded speech (DSP Sona-Graph digital unit). Controls were 22 age- and sex-matched noncleft children. Data analyzed included (1) the Spanish vocalic variables [a, i, u, e, o]: first formant, second formant, duration, and context; (2) obstruent variables [p, t, k]: burst, voice onset time, and duration, and (3) nasal variables [m]: first formant, second formant, and duration. Statistically significant differences were observed between the CL group and the control group in the first formant of [e] and in the increase of the frequency of the [t] burst. Comparison between UCLP and controls showed differences in the second formant of [a], in the first formant of [o], and in the second formant of [o]. These results suggest a small but significant influence of either the cleft lip or its repair on lip rounding for [o] and [u]. In addition, tongue position differences were most likely responsible for the differences seen with [a] and [e]. Spectrographic differences in the current patients did not contribute to meaningful differences in speech sound development. Individualized care (orthodontics, surgery, speech therapy) in children with cleft lip and/or palate attended at specialized craniofacial units contributes to normalization of speech development. PMID:12378036

  3. Risk of Oral Clefts (Cleft Lip and/or Palate) in Infants Born to Mothers Taking Topamax (Topiramate)

    MedlinePlus

    ... topiramate labels are being updated with the new information describing the increased risk of oral clefts. Q8. Does FDA have post marketing adverse event reports of oral clefts with topiramate? ...

  4. The Cleft Lip Nose: Primary and Secondary Treatment.

    PubMed

    Wolfe, Stephen Anthony; Nathan, Nirmal R; MacArthur, Ian R

    2016-01-01

    This article presents an overview of the cleft lip nasal deformity and its treatment. The complex pathologic changes to normal nasal anatomy are described, and treatment strategies for both unilateral and bilateral cleft lip patients are presented. The surgical technique for management of the cleft lip nasal deformity is discussed as it pertains to both primary and secondary correction. PMID:26616709

  5. [The adolescent with cleft lip and palate].

    PubMed

    Chapados, C

    1998-02-01

    Research studies afford an in-depth look at the problems experienced by adolescents born with a cleft lip, a cleft palate or cleft lip and palate. If not addressed, their problems can multiply with each successive stage of development. An interdisciplinary team, where the adolescents themselves play an important role, is one of the best means of helping them come to terms with the consequences of the abnormality. The nurse should be a key member of the team. To help adolescents cope with their situation now and in the future, the author promotes a holistic and humanistic approach. Here, she sees nurses creating therapeutic alliances as educators. She recommends that nurses assert themselves more as professionals and as essential resources. Her doctoral thesis proposes a training model to this effect. PMID:9573899

  6. Bilateral optic disc pit with maculopathy in a patient with cleft lip and cleft palate

    PubMed Central

    Seth, Anisha; Gupta, Rajat; Gupta, Anika; Raina, Usha K; Ghosh, Basudeb

    2015-01-01

    Optic disc pit (ODP) is small, gray-white, oval depression found at the optic nerve head. It is a congenital defect that occurs due to imperfect closure of superior edge of the embryonic fissure. Cleft lip and palate are also congenital midline abnormalities occurring due to defect in the fusion of frontonasal prominence, maxillary prominence and mandibular prominence. There is only one case report describing the occurrence of ODP in a young patient with cleft lip and palate who also had basal encephalocele. We describe a 52-year-old patient with congenital cleft lip and palate with bilateral ODP with maculopathy but without any other midline abnormality. PMID:26044478

  7. Average spatial distributions of energetic particles in the midaltitude cusp/cleft region observed by Viking

    SciTech Connect

    Kremser, G.; Lundin, R. )

    1990-05-01

    The cusp/cleft region provides an entrance for magnetosheath particles into the magnetosphere and a sink for magnetospheric particles. In addition, strong acceleration and/or scattering of particles takes place. The Swedish satellite Viking crossed this region at midaltitudes. Measurements from this spacecraft were used to determine the average spatial distributions of H{sup +} and He{sup ++} ions in the energy/charge range 2 keV/e {le} E/Q {le} 60 keV/e and of electrons with 7 keV {le} E {le} 97 keV. The data supply information on the structure of the midaltitude cusp/cleft region, the particle sources, and dynamical processes. Four different parts can be distinguished: (1) The cusp extends from about 76{degree} to 82{degree} invariant latitude (INL) and from 0800 to 1400 MLT. It is characterized by the presence of magnetosheath origin particles and important electron acceleration signatures. (2) A smaller region inside the cusp (77{degree}-82{degree} INL, 1000-1330 MLT) contains magnetosheath origin ions without electron acceleration. This is regarded as the cusp proper connected to the exterior cusp. (3) Poleward of the cusp magnetosheath origin ions are still present, but no magnetosheath electrons. This region is related to the plasma mantle. (4) Another region without magnetosheath origin ions but with strong electron acceleration extends equatorward of the cusp and probably constitutes part of the cleft, likely to be connected to the low-altitude boundary layer.

  8. The Fetal Cleft palate: V. Elucidation of the Mechanism of Palatal Clefting in the Congenital Caprine Model

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Maternal ingestion of Nicotiana glauca from gestation days 32 through 41 results in a high incidence of cleft palate in Spanish goats. This caprine cleft palate model was used to evaluate the temporal sequence of palatal shelf fusion throughout the period of cleft induction with the poisonous plant...

  9. [Atrioventricular septal defect in an adult patient: There are 'clefts' and clefts].

    PubMed

    Moreno, Nuno; Almeida, Jorge; Amorim, Mário Jorge

    2016-03-01

    In this report, we present the case of an adult male with severe mitral regurgitation due to an atrioventricular septal defect. Anatomical assessment by two- and three-dimensional transesophageal echocardiography was essential for detailed morphological characterization and surgical planning. The different features of a 'cleft' in an atrioventricular septal defect compared to an anterior leaflet cleft in an otherwise normal mitral valve are here discussed. PMID:26947378

  10. Folic Acid and Orofacial Clefts: A Review of the Evidence

    PubMed Central

    Wehby, George

    2010-01-01

    Orofacial clefts are common and burdensome birth defects with a complex genetic and environmental etiology. The contribution of nutritional factors and supplements to the etiology of orofacial clefts has long been theorized and studied. Multiple studies have evaluated the role of folic acid in the occurrence and recurrence of orofacial clefts, using observational and non-randomized interventional designs. While preventive effects of folic acid on orofacial clefts are commonly reported, the evidence remains generally inconsistent. This paper reviews the findings of the main studies of the effects of folic acid on orofacial clefts, summarize study limitations, and discuss research needs with a focus on studying the effects of high dosage folic acid on the recurrence of oral clefts using a randomized clinical trial design. The role of folic acid in the prevention of neural tube defects is also briefly summarized and discussed as a reference model for orofacial clefts. PMID:20331806

  11. Tobacco smoking and oral clefts: a meta-analysis.

    PubMed Central

    Little, Julian; Cardy, Amanda; Munger, Ronald G.

    2004-01-01

    OBJECTIVE: To examine the association between maternal smoking and non-syndromic orofacial clefts in infants. METHODS: A meta-analysis of the association between maternal smoking during pregnancy was carried out using data from 24 case-control and cohort studies. FINDINGS: Consistent, moderate and statistically significant associations were found between maternal smoking and cleft lip, with or without cleft palate (relative risk 1.34, 95% confidence interval 1.25-1.44) and between maternal smoking and cleft palate (relative risk 1.22, 95% confidence interval 1.10-1.35). There was evidence of a modest dose-response effect for cleft lip with or without cleft palate. CONCLUSION: The evidence of an association between maternal tobacco smoking and orofacial clefts is strong enough to justify its use in anti-smoking campaigns. PMID:15112010

  12. Parental Reactions to Cleft Palate Children.

    ERIC Educational Resources Information Center

    Vanpoelvoorde, Leah; Shaughnessy, Michael F.

    1991-01-01

    This paper reviews parents' emotional reactions following the birth of a cleft lip/palate child. It examines when parents were told of the deformity and discusses the duties of the speech-language pathologist and the psychologist in counseling the parents and the child. (Author/JDD)

  13. Parental Reactions to Cleft Palate Children.

    ERIC Educational Resources Information Center

    Vanpoelvoorde, Leah

    This literature review examines parental reactions following the birth of a cleft lip/palate child, focusing primarily on the mother's reactions. The research studies cited have explored such influences on maternal reactions as her feelings of lack of control over external forces and her feelings of guilt that the deformity was her fault. Delays…

  14. Two rare cases of simultaneous Tessier number 3 cleft, contralateral cleft lip, and signs of amniotic band syndrome.

    PubMed

    Xu, Yi; Mu, Yue; Chen, Renji; Zheng, Zongmei; Zhang, Wenjing

    2016-06-01

    The Tessier number 3 cleft is rare. In this paper, we report two extremely rare cases of simultaneous Tessier number 3 cleft, contralateral cleft lip, and signs of amniotic band syndrome. In the two cases, we confirmed that amniotic bands were the probable cause of the Tessier number 3 cleft, where swallowed fibrous strands of amniotic bands entangle a typical cleft lip and cause the more severe Tessier number 3 cleft. In this study, Z-plasty was performed for one case, and a straight-line method was used for the other. Postoperatively, the appearance of both patients was satisfactory, as expected. Consequently, treatment for the Tessier number 3 cleft should be designed individually based on the severity of deformity. PMID:27052637

  15. Syntax and Discourse in Near-Native French: Clefts and Focus

    ERIC Educational Resources Information Center

    Donaldson, Bryan

    2012-01-01

    This study examines aspects of the syntax-discourse interface in near-native French. Two cleft structures--"c'est" clefts and "avoir" clefts--are examined in experimental and spontaneous conversational data from 10 adult Anglophone learners of French and ten native speakers of French. "C'est" clefts mark focus, and "avoir" clefts introduce new…

  16. 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

  17. Definition of Critical Periods for Hedgehog Pathway Antagonist-Induced Holoprosencephaly, Cleft Lip, and Cleft Palate

    PubMed Central

    Heyne, Galen W.; Melberg, Cal G.; Doroodchi, Padydeh; Parins, Kia F.; Kietzman, Henry W.; Everson, Joshua L.; Ansen-Wilson, Lydia J.; Lipinski, Robert J.

    2015-01-01

    The Hedgehog (Hh) signaling pathway mediates multiple spatiotemporally-specific aspects of brain and face development. Genetic and chemical disruptions of the pathway are known to result in an array of structural malformations, including holoprosencephaly (HPE), clefts of the lip with or without cleft palate (CL/P), and clefts of the secondary palate only (CPO). Here, we examined patterns of dysmorphology caused by acute, stage-specific Hh signaling inhibition. Timed-pregnant wildtype C57BL/6J mice were administered a single dose of the potent pathway antagonist vismodegib at discrete time points between gestational day (GD) 7.0 and 10.0, an interval approximately corresponding to the 15th to 24th days of human gestation. The resultant pattern of facial and brain dysmorphology was dependent upon stage of exposure. Insult between GD7.0 and GD8.25 resulted in HPE, with peak incidence following exposure at GD7.5. Unilateral clefts of the lip extending into the primary palate were also observed, with peak incidence following exposure at GD8.875. Insult between GD9.0 and GD10.0 resulted in CPO and forelimb abnormalities. We have previously demonstrated that Hh antagonist-induced cleft lip results from deficiency of the medial nasal process and show here that CPO is associated with reduced growth of the maxillary-derived palatal shelves. By defining the critical periods for the induction of HPE, CL/P, and CPO with fine temporal resolution, these results provide a mechanism by which Hh pathway disruption can result in “non-syndromic” orofacial clefting, or HPE with or without co-occurring clefts. This study also establishes a novel and tractable mouse model of human craniofacial malformations using a single dose of a commercially available and pathway-specific drug. PMID:25793997

  18. [Cleft rhinoplasty, from primary to secondary surgery].

    PubMed

    Talmant, Jean-Claude; Talmant, Jean-Christian

    2014-12-01

    Despite fifty years of statistics, congresses, publications, the cleft nose remains an enigma to the great majority of cleft specialists. Most of the published papers give recipes to camouflage the cleft deformity, very few are concerned by the functional anatomy and its relation with facial growth. The complexity of the matter, the results frequently disappointing, the lack of awareness of the necessity of early nasal breathing, and the academic condemnation of any imperfect attempt to correct the nose at the time of the first operation have led to resignation. For the last forty years, we have been involved in a careful and obstinate research about the early correction of the cleft nose deformity. We wish to present our conclusions in this chapter with at least 17 years of follow-up. They are as following: in cleft patients the nasal cartilages are only deformed. We can achieve sub periosteal and sub perichondrial dissections by 6 months of age without being harmful for facial and nasal growth. Repositioning accurately the nasal structures is enough if we are able to control the healing process and prevent endonasal wound contraction. We have not to do any compromise and favor one function with regard to the others, nasal ventilation being the most important for a good facial growth. In a word, nasal pediatric surgery is necessary at the time of the first operation from 6 months of age and should be carried on with a double demand, aesthetic and functional. To achieve this goal, we must have a sound knowledge of the cleft nose deformity, of the adequate surgical techniques and of the logic chronology to reach the best result. The nose repair cannot be limited to the nasal cartilages. The whole nasal structure is concerned especially its bony framework, the width of which at the level of the piriform orifice and the nasal floor depends on the outcomes of any surgical step that it would relate to the lip, palate or alveolar closure. Interaction of all these factors

  19. Pacific Craniofacial Team and Cleft Prevention Program.

    PubMed

    Tolarová, Marie M; Poulton, Donald; Aubert, Maryse M; Oh, HeeSoo; Ellerhorst, Thomas; Mosby, Terezie; Tolar, Miroslav; Boyd, Robert L

    2006-10-01

    There is no doubt modern genetics have greatly influenced our professional and personal lives during the last decade. Uncovering genetic causes of many medical and dental pathologies is helping to narrow the diagnosis and select a treatment plan that would provide the best outcome. Importantly, having an understanding of multifactorial etiology helps direct our attention toward prevention. We now understand much better our own health problems. In some cases, we can modify our lifestyle and diet in order to prevent "environmental factors" from triggering the mutated genes inherited from our parents. Good examples are diabetes and cardiovascular diseases. If we realize we might have inherited genes for cardiovascular problems from several ancestors who had heart attacks, we already know that these genes will make us only "susceptible" for disease. Those who exercise, watch one's weight, diet, and carefully monitor one's lifestyle will very likely--though possessing "susceptibility genes"--stay healthier and, maybe, will never experience any cardiovascular problems. In principle, the same applies for craniofacial anomalies, especially for nonsyndromic cleft lip and palate. One needs to understand genetic and environmental causes of nonsyndromic orofacial clefts in order to prevent them. With all this in mind, the Pacific Craniofacial Team and Cleft Prevention Program have been established at the Department of Orthodontics, University of the Pacific Arthur A. Dugoni School of Dentistry in San Francisco. A partnership with Rotaplast International, Inc., has made it possible for the faculty, orthodontic residents, and students to participate in 27 multidisciplinary cleft medical missions in underdeveloped and developing countries by donating professional and educational services, and, last but not least, by collecting valuable data and specimens to further research. A significant number of research studies, including 15 master of science theses, have been accomplished in

  20. FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate

    PubMed Central

    Moreno, Lina M.; Mansilla, Maria Adela; Bullard, Steve A.; Cooper, Margaret E.; Busch, Tamara D.; Machida, Junichiro; Johnson, Marla K.; Brauer, David; Krahn, Katherine; Daack-Hirsch, Sandy; L'Heureux, Jamie; Valencia-Ramirez, Consuelo; Rivera, Dora; López, Ana Maria; Moreno, Manuel A.; Hing, Anne; Lammer, Edward J.; Jones, Marilyn; Christensen, Kaare; Lie, Rolv T.; Jugessur, Astanand; Wilcox, Allen J.; Chines, Peter; Pugh, Elizabeth; Doheny, Kim; Arcos-Burgos, Mauricio; Marazita, Mary L.; Murray, Jeffrey C.; Lidral, Andrew C.

    2009-01-01

    Nonsyndromic orofacial clefts are a common complex birth defect caused by genetic and environmental factors and/or their interactions. A previous genome-wide linkage scan discovered a novel locus for cleft lip with or without cleft palate (CL/P) at 9q22–q33. To identify the etiologic gene, we undertook an iterative and complementary fine mapping strategy using family-based CL/P samples from Colombia, USA and the Philippines. Candidate genes within 9q22–q33 were sequenced, revealing 32 new variants. Concurrently, 397 SNPs spanning the 9q22–q33 2-LOD-unit interval were tested for association. Significant SNP and haplotype association signals (P = 1.45E − 08) narrowed the interval to a 200 kb region containing: FOXE1, C9ORF156 and HEMGN. Association results were replicated in CL/P families of European descent and when all populations were combined the two most associated SNPs, rs3758249 (P = 5.01E − 13) and rs4460498 (P = 6.51E − 12), were located inside a 70 kb high linkage disequilibrium block containing FOXE1. Association signals for Caucasians and Asians clustered 5′ and 3′ of FOXE1, respectively. Isolated cleft palate (CP) was also associated, indicating that FOXE1 plays a role in two phenotypes thought to be genetically distinct. Foxe1 expression was found in the epithelium undergoing fusion between the medial nasal and maxillary processes. Mutation screens of FOXE1 identified two family-specific missense mutations at highly conserved amino acids. These data indicate that FOXE1 is a major gene for CL/P and provides new insights for improved counseling and genetic interaction studies. PMID:19779022

  1. Correlations between initial cleft size and dental anomalies in unilateral cleft lip and palate patients after alveolar bone grafting.

    PubMed

    Jabbari, Fatima; Reiser, Erika; Thor, Andreas; Hakelius, Malin; Nowinski, Daniel

    2016-03-01

    Objective To determine in individuals with unilateral cleft lip and palate the correlation between initial cleft size and dental anomalies, and the outcome of alveolar bone grafting. Methods A total of 67 consecutive patients with non-syndromic unilateral complete cleft lip and palate (UCLP) were included from the cleft lip and palate-craniofacial center, Uppsala University Hospital, Sweden. All patients were operated by the same surgeon and treated according to the Uppsala protocol entailing: lip plasty at 3 months, soft palate closure at 6 months, closure of the residual cleft in the hard palate at 2 years of age, and secondary alveolar bone grafting (SABG) prior to the eruption of the permanent canine. Cleft size was measured on dental casts obtained at the time of primary lip plasty. Dental anomalies were registered on radiographs and dental casts obtained before bone grafting. Alveolar bone height was evaluated with the Modified Bergland Index (mBI) at 1 and 10-year follow-up. Results Anterior cleft width correlated positively with enamel hypoplasia and rotation of the central incisor adjacent to the cleft. There was, however, no correlation between initial cleft width and alveolar bone height at either 1 or 10 years follow-up. Conclusions Wider clefts did not seem to have an impact on the success of secondary alveolar bone grafting but appeared to be associated with a higher degree of some dental anomalies. This finding may have implications for patient counseling and treatment planning. PMID:26923345

  2. Correlations between initial cleft size and dental anomalies in unilateral cleft lip and palate patients after alveolar bone grafting

    PubMed Central

    Jabbari, Fatima; Reiser, Erika; Thor, Andreas; Hakelius, Malin; Nowinski, Daniel

    2016-01-01

    Objective To determine in individuals with unilateral cleft lip and palate the correlation between initial cleft size and dental anomalies, and the outcome of alveolar bone grafting. Methods A total of 67 consecutive patients with non-syndromic unilateral complete cleft lip and palate (UCLP) were included from the cleft lip and palate-craniofacial center, Uppsala University Hospital, Sweden. All patients were operated by the same surgeon and treated according to the Uppsala protocol entailing: lip plasty at 3 months, soft palate closure at 6 months, closure of the residual cleft in the hard palate at 2 years of age, and secondary alveolar bone grafting (SABG) prior to the eruption of the permanent canine. Cleft size was measured on dental casts obtained at the time of primary lip plasty. Dental anomalies were registered on radiographs and dental casts obtained before bone grafting. Alveolar bone height was evaluated with the Modified Bergland Index (mBI) at 1 and 10-year follow-up. Results Anterior cleft width correlated positively with enamel hypoplasia and rotation of the central incisor adjacent to the cleft. There was, however, no correlation between initial cleft width and alveolar bone height at either 1 or 10 years follow-up. Conclusions Wider clefts did not seem to have an impact on the success of secondary alveolar bone grafting but appeared to be associated with a higher degree of some dental anomalies. This finding may have implications for patient counseling and treatment planning. PMID:26923345

  3. Median Facial Cleft in Amniotic Band Syndrome

    PubMed Central

    Das, Debabrata; Das, Gobinda; Gayen, Sibnath; Konar, Arpita

    2011-01-01

    Amniotic band syndrome manifests at birth with a variety of malformations ranging from constriction ring to defects incompatible to life, in various parts of the body. Although some theories have been proposed for the development of this syndrome, the exact cause remains unknown. The median facial cleft is an extremely rare manifestation of amniotic band syndrome with a relative paucity of reports available in the literature. Here, we report one such case. PMID:21731335

  4. Simple Correction of the Congenital Cleft Earlobe.

    PubMed

    Karaci, Selman; Köse, Rüştü

    2016-07-01

    The appearance of the ear is an important component of the facial characteristics. Lower auricular malformations are less frequent than total or upper auricular malformations. The patients are affected unilaterally in general. Cleft earlobe is frequently encountered among earlobe anomalies. The presented case may be classified as longitudinal type according to Kitayama (Jpn J Plast Reconstr Surg 11:663-670, 1980). Many of the correction methods may lead to patient discomfort due to possible conspicuous scar. The patient was a 5 year old girl. In the presented case, a simple method has been performed. Satisfactory outcome is achieved. As a simple method applying longitudinal division and rotation procedure does not have marginal excision. Furthermore there is no additional incision outside the cleft margin. Local flap and graft are not applied. Conservative approach was maintained with respect to scar occurrence. This method is not favourable in the case of acquired split earlobe deformities due to the wide cleft surface. Postoperative 3rd-month appearance demonstrated adequate correction. PMID:27408464

  5. The Evolution of Human Genetic Studies of Cleft Lip and Cleft Palate

    PubMed Central

    Marazita, Mary L.

    2013-01-01

    Orofacial clefts (OFCs)—primarily cleft lip and cleft palate—are among the most common birth defects in all populations worldwide, and have notable population, ethnicity, and gender differences in birth prevalence. Interest in these birth defects goes back centuries, as does formal scientific interest; scientists often used OFCs as examples or evidence during paradigm shifts in human genetics, and have also used virtually every new method of human genetic analysis to deepen our understanding of OFC. This review traces the evolution of human genetic investigations of OFC, highlights the specific insights gained about OFC through the years, and culminates in a review of recent key OFC genetic findings resulting from the powerful tools of the genomics era. Notably, OFC represents a major success for genome-wide approaches, and the field is poised for further breakthroughs in the near future. PMID:22703175

  6. Ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome.

    PubMed

    Dhar, Reema Sharma; Bora, Amitava

    2014-01-01

    Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome is an autosomal dominant disorder characterized by the triad of ectrodactyly-ectodermal dysplasia, and facial clefting along with some associated features. Presence of all the three major features in a single individual is extremely rare. We report a case of 4 year 11 months old child with EEC syndrome having ectodermal dysplasia-cleft lip and cleft palate and ectrodactyly with some associated features. Clinical features, diagnosis and role of a dentist in the multidisciplinary treatment approach have been elaborated in this case report. PMID:25231046

  7. Corticosteroid use during pregnancy and risk of orofacial clefts

    PubMed Central

    Hviid, Anders; Mølgaard-Nielsen, Ditte

    2011-01-01

    Background The association between the risk of orofacial clefts in infants and the use of corticosteroids during pregnancy is unclear from the available evidence. We conducted a nationwide cohort study of all live births in Denmark over a 12-year period. Methods We collected data on all live births in Denmark from Jan. 1, 1996, to Sept. 30, 2008. We included live births for which information was available from nationwide health registries on the use of corticosteroids during pregnancy, the diagnosis of an orofacial cleft and possible confounders. Results There were 832 636 live births during the study period. Exposure to corticosteroids during the first trimester occurred in 51 973 of the pregnancies. A total of 1232 isolated orofacial clefts (i.e., cleft lip, cleft palate, or cleft lip and cleft palate) were diagnosed within the first year of life, including 84 instances in which the infant had been exposed to corticosteroids during the first trimester of pregnancy. We did not identify any statistically significant increased risk of orofacial clefts associated with the use of corticosteroids: cleft lip with or without cleft palate, prevalence odds ratio (OR) 1.05 (95% confidence interval [CI] 0.80–1.38]; cleft palate alone, prevalence OR 1.23 (95% CI 0.83–1.82). Odds ratios for risk of orofacial clefts by method of delivery (i.e., oral, inhalant, nasal spray, or dermatologic and other topicals) were consistent with the overall results of the study and did not display significant heterogeneity, although the OR for cleft lip with or without cleft palate associated with the use of dermatologic corticosteroids was 1.45 (95% CI 1.03–2.05). Interpretation Our results add to the safety information on a class of drugs commonly used during pregnancy. Our study did not show an increased risk of orofacial clefts with the use of corticosteroids during pregnancy. Indepth investigation of the pattern of association between orofacial clefts and the use of dermatologic

  8. Presurgical Dentofacial Orthopedic Management of the Cleft Patient.

    PubMed

    Smith, Kevin S; Henry, Byron T; Scott, Michelle A

    2016-05-01

    Over the last decade, presurgical orthopedic molding for the patient with cleft lip and palate has become much more common; it is even reasonable to assume it may be the standard of care for those wide unilateral and bilateral clefts with substantial dentofacial deformities. In 2013, there was a comparative study of nasoalveolar molding methods, comparing the Grayson-NAM device and DynaCleft. The results showed the 2 to be equivocal with both methods significantly reducing the cleft width and improving the nasal asymmetry. PMID:27150304

  9. Rehabilitation of Cleft Palate: Parents and Professionals, A Unifying Model

    ERIC Educational Resources Information Center

    Pannbacker, Mary; Schneiderman, Carl

    1977-01-01

    Described are commonalities and differences between parents of children with cleft palate and rehabilitation professionals, and offered are suggestions to increase communication and joint effectiveness. (DB)

  10. Exposure of Cleft Lip and Palate Patients to Toxic Elements Released during Orthodontic Treatment in the Study of Non-Invasive Matrices

    PubMed Central

    Mikulewicz, Marcin; Kachniarz, Krzysztof; Chojnacka, Katarzyna

    2015-01-01

    The Objective The aim of the study was evaluation of metal ions (nickel and chromium) released from orthodontic appliances in cleft lip and palate patients and the usefulness of non-invasive matrices (saliva and hair). Materials and Methods The material studied consisted of 100 individuals, including 59 females and 41 males of 5 to 16 years of age, which were divided into 3 groups: experimental–patients with cleft lip and palate (36 individuals, the average treatment time 5.74 years); control group–patients without cleft lip and palate, during orthodontic treatment (32 individuals, the average treatment time 1.78 years) and the control group patients without cleft lip and palate, without any orthodontic appliances (32 individuals). Samples (saliva, hair) were collected and subjects underwent a survey by questionnaire. Multi-elemental analyses of the composition of non-invasive matrices was conducted in an accredited laboratory by inductively coupled plasma spectrometry technique ICP-OES. The results were reported as mean contents of particular elements (Cd, Cr, Cu, Fe, Mn, Mo, Ni, Si) in hair and in saliva. Results The concentration of Cr, Ni, Fe and Cu ions in saliva of cleft lip and palate patients were several times higher as compared with not treated orthodontically control groups and higher than in the group with orthodontic appliances. Among the assessed matrices, hair of cleft lip and palate patients seem to be not a meaningful biomarker. Conclusion It was found that orthodontic appliances used in long-term treatment of cleft lip and palate patients do not release toxic levels of Cr and Ni ions. PMID:26544176

  11. Cleft Care UK study. Part 5: child psychosocial outcomes and satisfaction with cleft services

    PubMed Central

    Waylen, A; Ness, A R; Wills, A K; Persson, M; Rumsey, N; Sandy, J R

    2015-01-01

    Structured Abstract Objectives To describe the impact of cleft service centralization on parental perceptions of child outcomes and satisfaction with care from the Cleft Care UK (CCUK) study and compare them to the Clinical Standards Advisory Group (CSAG) study that took place 15 years earlier. Setting and Sample Population A subgroup of respondents from a UK multicentre cross-sectional study (CCUK) of 5-year-olds born with non-syndromic unilateral cleft lip and palate. Materials and Methods Data on parents’ perceptions of child self-confidence and their satisfaction with treatment outcomes and service provision were collected via self-report questionnaires. Data were compared with findings from the 1998 CSAG study. Results Fewer parents in the CCUK study perceived their children as having poor self-confidence than in the 1998 CSAG study (8 and 19%, respectively). At least 81% of parents report satisfaction with the child’s facial features after surgery and 98% report being satisfied with the care received. These results are similar to those reported in 1998. There is no evidence of an adverse impact on families’ ability to attend appointments at the cleft clinic following centralization. Levels of reported problems (around 30%) with attendance were similar to those reported by CSAG. Conclusion Centralization of cleft services appears to have improved parental perceptions of some child outcomes but has made little difference to already high levels of parental satisfaction with cleft care services. Centralization is not associated with an increase in the proportion of families who find it difficult to attend appointments. PMID:26567855

  12. A Glance at Methods for Cleft Palate Repair

    PubMed Central

    Tavakolinejad, Sima; Ebrahimzadeh Bidskan, Alireza; Ashraf, Hami; Hamidi Alamdari, Daryoush

    2014-01-01

    Context: Cleft palate is the second most common birth defect and is considered as a challenge for pediatric plastic surgeons. There is still a general lack of a standard protocol and patients often require multiple surgical interventions during their lifetime along with disappointing results. Evidence Acquisition: PubMed search was undertaken using search terms including 'cleft palate repair', 'palatal cleft closure', 'cleft palate + stem cells', 'cleft palate + plasma rich platelet', 'cleft palate + scaffold', 'palatal tissue engineering', and 'bone tissue engineering'. The found articles were included if they defined a therapeutic strategy and/or assessed a new technique. Results: We reported a summary of the key-points concerning cleft palate development, the genes involving this defect, current therapeutic strategies, recently novel aspects, and future advances in treatments for easy and fast understanding of the concepts, rather than a systematic review. In addition, the results were integrated with our recent experience. Conclusions: Tissue engineering may open a new window in cleft palate reconstruction. Stem cells and growth factors play key roles in this field. PMID:25593724

  13. Smile Train: The ascendancy of cleft care in India

    PubMed Central

    Singh, Subodh Kumar

    2009-01-01

    Though India has an estimated population of one million untreated cleft patients, facilities for its treatment have been limited and are not evenly distributed across the country. Furthermore, a paucity of committed cleft surgeons in fewer hospitals to provide quality surgical treatment to these patients, poverty, illiteracy, superstitions and poor connectivity in some remote regions severely limit the chances of an average cleft lip patient born in India from receiving rational and effective comprehensive treatment for his/her malady. The Smile Train Project with its singular focus on cleft patients started its philanthropic activities in India in the year 2000. It made hospitals and included clefts surgeon equal partners in this programme and helped them treat as many cleft patients as they possibly could. The Project encouraged improvement of the training and infrastructure in various centres across the length and breadth of the region. The Project received an unprecedented success in terms of growth of number of centres, cleft surgeons and quantum of cleft patients reporting for treatment. The G S Memorial Hospital is one such partner hospital. It started innovative outreach programmes and took a holistic view of the needs of these patients and their families. With the support of the Smile Train, it has not only succeeded in providing treatment to more than 14,500 patients in 5 years, but has also devised innovative outreach programmes and seamlessly incorporated salient changes in the hospital system to suit the needs of the target population. PMID:19884676

  14. COMPREHENSIVE EVALUATIVE TECHNIQUES FOR THE CHILD WITH A CLEFT PALATE.

    ERIC Educational Resources Information Center

    BENSEN, JACK F.; WHITE, FRAZER D.

    A MULTIDISCIPLINARY APPROACH TO CHILDREN WITH CLEFT PALATES IS DESCRIBED. THE SOUTH FLORIDA CLEFT PALATE CLINIC, REPRESENTING NINE PROFESSIONAL SPECIALTIES, MEETS WEEKLY TO SEE SIX OR SEVEN CASES. SPEECH PERFORMANCE IS RECORDED ON SIX DIAGNOSTIC, DATA COLLECTING FORMS WHICH PROVIDE A BASIS FOR RECORDING CLINICAL JUDGMENTS. PROGNOSIS AND…

  15. Feeding Techniques for Children Who Have Cleft Lip and Palate.

    ERIC Educational Resources Information Center

    Klein, Marsha Dunn

    This pamphlet on feeding techniques for children who have cleft lip and palate emphasizes the role of the parent as part of a team involving many specialists. The pamphlet begins with explanations of complete and incomplete separations of the lip, unilateral and bilateral cleft lips, corrective surgical procedures, etc. The importance of weight…

  16. Single-Word Intelligibility in Speakers with Repaired Cleft Palate

    ERIC Educational Resources Information Center

    Whitehill, Tara; Chau, Cynthia

    2004-01-01

    Many speakers with repaired cleft palate have reduced intelligibility, but there are limitations with current procedures for assessing intelligibility. The aim of this study was to construct a single-word intelligibility test for speakers with cleft palate. The test used a multiple-choice identification format, and was based on phonetic contrasts…

  17. Early Speech Production of Children with Cleft Palate.

    ERIC Educational Resources Information Center

    Estrem, Theresa; Broen, Patricia A.

    1989-01-01

    The study comparing word-initial target phonemes and phoneme production of five toddlers with cleft palate and five normal toddlers found that the cleft palate children tended to target more words with word-initial nasals, approximants, and vowels and fewer words with word-initial stops, fricatives, and affricates than normal children. (Author/DB)

  18. The caries prevalence of oral clefts in eastern China

    PubMed Central

    Xiao, Wen-Lin; Zhang, Dai-Zun; Xu, Yao-Xiang

    2015-01-01

    Little information is available concerning the prevalence of caries among patients with oral clefts in Eastern China. Consecutive patients aged 6-18 with oral clefts were recruited. Patients were stratified into 2 groups according to their ages, namely Group I with aged 6-12 and Group II with aged 13-18. For each age group, the children were further divided into three subgroups according to the types of oral clefts they had: cleft lip/cleft lip and alveolus (CL), cleft palate only (CP), and cleft lip and palate (CLP). Dental caries were examined by using the decayed, missing, and filled index for primary teeth (dmft) and Decay, Missing and Filled index for Permanent teeth (DMFT) according to criteria of the World Health Organization. 268 eligible patients with oral clefts were included in the study. The mean DMFT for Group I was 1.77 (SD2.58) while that for Group II was 6.96 (SD4.35). The mean DMFT was statistically significant different between the age group I and age group II (t=12.21, P<0.05). In Group I, the dmft scores was 4.68 (SD3.67) for CL group, while that for the CP group was 7.36 (SD3.93), and that for the CLP group was 5.72 (SD 3.87). The mean dmft was no statistically significant different among cleft types (F=3.13, P>0.05). Also in Group I, the mean DMFT was 1.56 (SD2.18) for CL group, while that for the CP group was 1.24 (SD 1.81) and that for the CLP group was 2.08 (SD2.96). There were no statistically significant different in mean DMFT among different cleft types (F=1.09, P>0.05). In Group II, the mean DMFT was 6.06 (SD3.97) for CL group while that for the CP group was 7.71 (SD 4.94) and that for the CLP group was 7.05 (SD4.32). No significant difference was shown in the mean DMFT among different cleft groups (CL, CP, and CLP) (F=0.55, P>0.05). During assess the prevalence of dental caries among Eastern Chinese with oral clefts; the study confirmed that the prevalence of caries was increased with increasing age for oral clefts patients. It was

  19. Malonylcarnitine in Newborns with Non-syndromic Cleft Lip with or without Cleft Palate

    PubMed Central

    Hozyasz, Kamil Konrad; Oltarzewski, Mariusz; Dudkiewicz, Zofia

    2010-01-01

    Aim Malonyl-CoA is regarded as a key signaling molecule in mammalian cells. It is converted to acetyl-CoA, and to a lesser extent, to malonyl acid and malonylcarnitine (C3DC). Availability of carnitine has been reported to be essential for the developing fetus. The objectives of the present study were to analyze associations of malonylcarnitine, acetylcarnitine (C2), and free carnitine (C0) in subjects with orofacial clefts. Methodology We performed a retrospective analysis of carnitine concentration obtained from a newborn screening program carried out in our institution. Concentrations of whole blood malonylcarnitine, acetylcarnitine, and free carnitine were measured using tandem mass spectrometry. The study group consisted of 51 children with non-syndromic cleft lip with or without cleft palate. In total, 106 healthy children without congenital anomalies served as controls. Cut-off points were established using likelihood ratio values. Results The mean concentration of malonylcarnitine in the cleft group was lower than that of the control group, 0.048 μmol·L−1 vs. 0.058 μmol·L−1, respectively (P=0.009). In patients with orofacial cleft, low malonylcarnitine levels (≤0.047 μmol·L−1) were 1.7 times more predominant than in healthy individuals (P=0.03). The mean concentration of acetylcarnitine was also lower in affected newborns in comparison to controls, 33.8 μmol·L−1 vs. 37.8 μmol·L−1, respectively (P=0.026). After analysis of acetylcarnitine and free carnitine concentrations, the likelihood ratio test did not indicate valuable cut-off points. Conclusion The study provides initial data indicating a potential association between decreased malonylcarnitine and abnormal palatogenesis. PMID:21125791

  20. Ten-Year Cleft Surgery in Nepal: Achievements and Lessons Learned for Better Cleft Care Abroad

    PubMed Central

    Pape, Hans-Dieter; Koch, Heribert; Koller, Michael

    2016-01-01

    Background: Cleft lip and palate surgery abroad is devoid of global consensus regarding standards of therapy, follow-up, and outcome. Cleft surgery in Nepal during a 10-year sustained program provided the opportunity to inform on the need for such standards. Methods: Medical records were evaluated from the cleft clinic at Sushma Koirala Memorial Hospital, Sankhu, Kathmandu, Nepal, from 1997 to 2007. Four groups were identified for analysis: total cohort, total surgical cohort (TSC), primary program patients (PPP; patients had not been operated on before), and nonprimary program patients (non-PPP; patients operated on elsewhere before). Patient demographics, diagnostic, primary and secondary surgery (corrective surgery), and follow-up were evaluated. Results: One thousand forty-five patients were eligible for surgery. Three hundred twenty-three of 1,045 patients (30.9%) did not seek treatment, although scheduled for surgery. One thousand two hundred one procedures were performed in 722 patients [TSC; 845 PPP (70.4%); 356 non-PPP (29.64%)]. Corrective procedures were performed in 257 of 1,201 [3.5% (30 of 845 procedures in 509 patients) PPP vs 63.7% (227 of 356 procedures in 213 patients) non-PPP]. One hundred six lips were completely reoperated on (1 PPP vs 105 non-PPP), and 42 palates underwent a total revision (5 PPP vs 37 non-PPP). The surgical outcome of the TSC group in terms of complication rate was similar to the one in developed countries. Conclusions: The high rate of corrective surgery reveals the need for global regulatory mechanisms and the need for nongovernmental organizations to introduce strategies for delivering sustained cleft care until achieving full rehabilitation. The World Health Organization should establish standards for cleft care delivered in less developed countries. PMID:27579235

  1. Epidemiologic Research on Malformations Associated with Cleft Lip and Cleft Palate in Japan

    PubMed Central

    Koga, Hiroshi; Iida, Koichi; Maeda, Tomoki; Takahashi, Mizuho; Fukushima, Naoki; Goshi, Terufumi

    2016-01-01

    To investigate malformations associated with cleft lip and cleft palate, we conducted surveys at neonatal intensive care units (NICUs) and other non-NICU facilities and to determine whether there are differences among facilities. The regional survey investigated NICU facilities located in Oita Prefecture, including 92 patients with cleft lip and palate (CLP) or cleft palate (CP) that occurred between 2004 and 2013, and the national survey investigated oral surgery, plastic surgery, and obstetrics and gynecology facilities located in Japan, including 16,452 patients with cleft lip (CL), CLP, or CP that occurred since 2000. The incidence per 10,000 births was 4.2, 6.2, and 2.8 for CL, CLP, and CP, respectively, according to the national survey, and 6.3 and 2.9 for CLP and CP, respectively according to the regional survey. These results indicated comparable incidences between the two surveys. In contrast, when the survey results on malformations associated with CLP and CP according to the ICD-10 classification were compared between the national survey conducted at oral surgery or plastic surgery facilities and the regional survey conducted at NICU facilities, the occurrence of associated malformations was 19.8% vs. 41.3% for any types of associated malformation, 6.8% vs. 21.7% for congenital heart disease, and 0.5% vs. 16.3% for chromosomal abnormalities. These results indicated that the incidences of all of these associated malformations were significantly greater in the survey conducted at NICU facilities and similar to the findings from international epidemiological surveys. When comparing the survey conducted at obstetrics facilities vs. NICU facilities, the occurrence of associated malformations was similar results as above. The incidence of CLP and CP was not different between surveys conducted at NICU facilities vs. non-NICU facilities; however, when conducting surveys on associated malformations, it is possible to obtain accurate epidemiological data by

  2. Cusp/cleft region as observed by the Viking UV imager

    SciTech Connect

    Garbe, G.P.; Murphree, J.S.; Cogger, L.L. ); Woch, J. )

    1993-04-01

    The authors report data taken by the Viking satellite at mid-altitudes (11,000-13,000 km) during northern hemispheric crossings of the cusp/cleft region. Particle signatures were used to divide the region into different categories. Data was looked at from the ultraviolet imager and particle diagnostics, when available. The authors discuss in detail two cases of crossing the cusp/cleft region, in order to look at the dynamics of a specific event, as opposed to other data analyses which have used large data sets to acquire good statistics, but which can thereby obscure dynamics of the actual events. Particle data were taken by the electron spectrometer ESP 1 and the ion spectrometer PISP 1/2. They looked at the spectral range 0.01 to 40 keV. The UV imager recorded 1 sec exposures of the auroral distribution once per minute. The data shows instantaneous observations of emissions, and does so for a narrow path swept by the satellite. Data indicate that the entire region is not a homogeneous region, but rather a very dynamic object. Conclusions include that the emissions observed are located at the footprint of the cleft region. The cusp region is located poleward of the region with continuous emission. The emission is observed to remain at a constant magnetic latitude during the period with IMF data, though B[sub z] swung 8nT during a 30 minute period.

  3. The Repair of International Clefts in the Current Surgical Landscape.

    PubMed

    Persing, Sarah; Patel, Anup; Clune, James E; Steinbacher, Derek M; Persing, John A

    2015-06-01

    Cleft lip and palate (CLP) constitute a significant global disease burden. There are two general models that exist to deliver cleft care: surgical missions and comprehensive cleft centers (CCC). While surgical missions offer high quality surgical care to patients who would be unlikely to ever receive treatment, they may fail to provide sustainable solutions. The development of CCC is growing in popularity worldwide. CCC are permanent centers that offer a multidisciplinary team approach to the treatment of cleft lip and palate. Operation Smile has adopted the concept of specialized surgical care centers. These centers are shown to be safe, cost-effective, and provide sustainable solutions for cleft care. The authors discuss some of the benefits and drawbacks of the classic mission-based model and highlight why there may be a paradigm shift towards CCC. PMID:26080140

  4. The gingival Stillman’s clefts: histopathology and cellular characteristics

    PubMed Central

    Cassini, Maria Antonietta; Cerroni, Loredana; Ferlosio, Amedeo; Orlandi, Augusto; Pilloni, Andrea

    2015-01-01

    Summary Aim of the study Stillman’s cleft is a mucogingival triangular-shaped defect on the buccal surface of a root with unknown etiology and pathogenesis. The aim of this study is to examine the Stillman’s cleft obtained from excision during root coverage surgical procedures at an histopathological level. Materials and method Harvesting of cleft was obtained from two periodontally healthy patients with a scalpel and a bevel incision and then placed in a test tube with buffered solution to be processed for light microscopy. Results Microscopic analysis has shown that Stillman’s cleft presented a lichenoid hand-like inflammatory infiltration, while in the periodontal patient an inflammatory fibrous hyperplasia was identified. Conclusion Stillman’s cleft remains to be investigated as for the possible causes of such lesion of the gingival margin, although an inflammatory response seems to be evident and active from a strictly histopathological standpoint. PMID:26941897

  5. Surgical repair of the isolated incomplete median cleft lip.

    PubMed

    Topkara, A; Özkan, A; Özcan, R H; Öksüz, M

    2016-02-01

    Median cleft lip refers to a vertical cleft on the midline of the upper lip. It is a rare congenital craniofacial anomaly brought about by a fusion failure in the medial nasal prominence. A novel surgical approach to median cleft lips and their repair is reported herein, with reference to a clinical case. The patient had a cleft in the lower half of the upper lip. There were no other craniofacial anomalies in this patient other than the cleft. Within the framework of the patient's surgical treatment, a functional and cosmetically satisfactory result was achieved by performing a V-Y advancement flap on the columella base, Z-plasty in the vermillion zone, and Z pattern muscular tissue repair, without having to resort to any tissue excisions. PMID:26364580

  6. Flap Necrosis after Palatoplasty in Patients with Cleft Palate

    PubMed Central

    Rossell-Perry, Percy

    2015-01-01

    Palatal necrosis after palatoplasty in patients with cleft palate is a rare but significant problem encountered by any cleft surgeon. Few studies have addressed this disastrous complication and the prevalence of this problem remains unknown. Failure of a palatal flap may be attributed to different factors like kinking or section of the pedicle, anatomical variations, tension, vascular thrombosis, type of cleft, used surgical technique, surgeon's experience, infection, and malnutrition. Palatal flap necrosis can be prevented through identification of the risk factors and a careful surgical planning should be done before any palatoplasty. Management of severe fistulas observed as a consequence of palatal flap necrosis is a big challenge for any cleft surgeon. Different techniques as facial artery flaps, tongue flaps, and microvascular flaps have been described with this purpose. This review article discusses the current status of this serious complication in patients with cleft palate. PMID:26273624

  7. Recent cusp and cleft results from interball

    NASA Astrophysics Data System (ADS)

    Sandahl, Ingrid

    The Interball project has given important contributions to our understanding of the morphology and the physical processes in the cusp and cleft. Interball Tail and Magion-4 have performed more extensive measurements in the high altitude cusp than any previous spacecraft. Interball has also been a part in the ISTP program and data have been used in many multipoint studies. In this paper recent cusp and cleft studies based entirely or partly on Interball data will be reviewed. Interball data show that processes at high latitudes are very important for plasma entry into the magnetosphere. A case study for southward IMF conditions agrees with a model in which the mantle is populated via entry along open high-latitude field lines. A statistical study of events dominated by IMF B y shows that merging in anti-parallel fields, rather than subsolar point reconnection, populates the mantle. Plasma entry also takes place through the turbulent boundary layer, TBL, a region of strong, Alfvenic ULF turbulence above the cusp and cleft. The TBL is almost always present. It extends tailward from the cusp and is proposed to be related to the magnetospheric sash. For the overall magnetosheath plasma entry into the magnetosphere the magnetotail boundary is probably more important than the cusp. The position of the cusp is controlled by the solar wind in a similar way as the low altitude cusp. The mid-altitude cusp was found to maintain its fine structure over periods of the order of one hour. A suprathermal proton population not previously described has been detected in the mid-altitude cusp.

  8. Cleft Lip Repair: The Hybrid Subunit Method.

    PubMed

    Tollefson, Travis T

    2016-04-01

    The unilateral cleft lip repair is one of the most rewarding and challenging of plastic surgery procedures. Surgeons have introduced a variety of straight line, geometric, and rotation-advancement designs, while in practice the majority of North American surgeons have been using hybrids of the rotation-advancement techniques. The anatomic subunit approach was introduced in 2005 by Fisher and has gained popularity, with early adopters of the design touting its simplicity and effectiveness. The objectives of this article are to summarize the basic tenets of respecting the philtral subunit, accurate measurement and planning, and tips for transitioning to this subunit approach. PMID:27097136

  9. Genetics of Cleft Palate and Velopharyngeal Insufficiency

    PubMed Central

    Sweeney, Walter M.; Lanier, Steve T.; Purnell, Chad A.; Gosain, Arun K.

    2015-01-01

    Velopharyngeal insufficiency (VPI) can occur in the setting of an unrepaired or repaired cleft lip and palate. The rate of VPI has been documented as high as 33% in some studies with higher rates of recurrences following surgery associated with genetic syndromes such as 22q11.2 deletions. The primary cause of VPI in these groups is still identified as the anatomic abnormalities of the velum. In this review, the anatomy and physiology of the velum are discussed along with genetic mutations associated with VPI.

  10. Studies with WNT Genes and Nonsyndromic Cleft Lip and Palate

    PubMed Central

    Menezes, Renato; Letra, Ariadne; Kim, Ana H.; Kuchler, Erika C.; Day, Alicia; Tannure, Patricia N.; da Motta, Luise Gomes; Paiva, Katiucia Batista; Granjeiro, Jose M.; Vieira, Alexandre R.

    2010-01-01

    Background Clefts of the lip and/or palate (cleft lip/palate) are notable for their complex etiology. The WNT pathway regulates multiple developmental processes including craniofacial development and may play a role in cleft lip/palate and other defects of craniofacial development such as tooth agenesis. Variations in WNT genes have been recently associated with cleft lip/palate in humans. In addition, two WNT genes, Wnt3 and Wnt9B, are located in the clf1 cleft locus in mice. Methods We investigated 13 SNPs located in WNT3A, WNT5A, WNT8A, WNT11, WNT3 and WNT9B genes, for association with cleft lip/palate subphenotypes in 500 cleft cases and 500 unrelated controls. Genotyping of selected polymorphisms was carried out using Taqman assays. PLINK 1.06 software was used to test for differences in allele frequencies of each polymorphism between affected and unaffected individuals. Haplotype analysis was also performed. Results Individuals carrying variant alleles in WNT3 presented an increased risk for cleft lip/palate (P=0.0003; OR=1.61 95% C.I: 1.29 -2.02) in the population studied. Conclusion Our results continue to support a role for WNT genes in the pathogenesis of cleft lip/palate. Although much remains to be learned about the function of individual WNT genes during craniofacial development, additional studies should focus in the identification of potentially functional variants in these genes as contributors to human clefting. PMID:20890934

  11. Clefting and psychosocial adjustment. Influence of facial aesthetics.

    PubMed

    Tobiasen, J M; Hiebert, J M

    1993-10-01

    This article briefly reviewed the research literature on the psychosocial correlates of facial clefts and described a program of research to study the relationship between severity of cleft impairment and psychosocial adjustment. In the past 40 years, there has been increasing recognition and research literature on the psychologic implications of facial clefts to patients and their families. Advances in both the knowledge base and the science of the psychologic correlates of facial clefts have been made. Children with clefts are not at greater risk for psychopathology than are individuals without clefts; however, they are at significant risk for social competence problems relating to development of friendships, progress in school, and participation in organizations. Problems with social competence have a negative effect on development. The ability of all children to make friends and to be liked by others is considered by most parents, teachers, and child development specialists to be a major developmental milestone. Not having friends and social withdrawal can cause parents or teachers to refer noncleft children to mental health professionals and is a predictor of impaired adult social competence and mental health. Studies of adults with clefts are consistent with studies of adults without clefts. Adults with repaired clefts are less likely to marry than are their noncleft siblings, and they have more problems with social withdrawal. Because facial attractiveness is well-known to affect peer acceptance, we hypothesized that the severity of the cleft deformity may have a significant impact on social competence. Consequently, we undertook a program of research to examine this question.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:8275628

  12. Presurgical nasoalveolar moulding in unilateral cleft lip and palate

    PubMed Central

    Zuhaib, Mohammed; Bonanthaya, Krishnamurthy; Parmar, Renu; Shetty, Pritham N.; Sharma, Pradeep

    2016-01-01

    Context: Presurgical nasoalveolar moulding (PNAM) is a non-surgical method of reshaping the cleft lip, alveolus, palate and the nose to minimize the severity of the cleft deformity, before primary cheiloplastyand palatoplasty. In this context, PNAM proves to be an invaluable asset in the management of unilateral cleft lip and palate. Aims: The study was conducted to evaluate the efficacy of PNAM in the management of unilateral cleft lip and palate with the following objectives: (1) To assess and compare the degree of reduction in the size of cleft palate and alveolus (pre-PNAM and post-PNAM). (2) To evaluate and compare the improvement in columellar length and correction of columellar deviation (pre-PNAM and post-PNAM). (3) To assess the changes in the position of the alar base and the alar cartilages. Settings and Design: Prospective study. Subjects and Methods: A prospective study consisting of, which included 20 patients with complete unilateral cleft lip and palate was conducted. The age at the start of PNAM treatment of the infants ranged from 2 to 44 days of age reporting to our institute between December 2011 and August 2013. All the patients underwent PNAM therapy before primary cheiloplasty at 6 months of age; clinical parameters were assessed pre- and post-therapy using photographs and dental study models of the maxilla. Statistical Analysis Used: Student's t-test for paired comparisons. Results: Results of the study showed a promising reduction in the cleft size before the surgery, significant improvement in nasal symmetry, including the columellar length on the cleft side. Conclusions: PNAM is a valuable adjunct to our surgical armamentarium in dealing with the challenges of primary closure of unilateral cleft lip and palate thereby enhancing the overall surgical outcome. The advantages of this method include the simplicity of the procedure and improving the quality of surgical repair, particularly in obtaining tension free muscle closure in unilateral

  13. Transport of accelerated low-energy ions in the polar magnetosphere

    NASA Technical Reports Server (NTRS)

    Horwitz, J. L.; Lockwood, M.; Waite, J. H., Jr.; Moore, T. E.; Chappell, C. R.

    1986-01-01

    Recent satellite observations of low-energy (0-50 eV) ionospheric ions in the polar cap magnetosphere suggest that these ions are injected at the dayside cleft topside ionosphere. Using a two-dimensional kinetic model, several consequences of this ion flow from a narrow cleft source have been simulated and observed. These include: (1) the Kp/convection-dependent filling of the polar magnetosphere with ionospheric heavy ions, in which these ions are 'blown' further into the polar cap magnetosphere from the cleft during high Kp/convection; (2) the mass- and energy-dependent dispersion of these ions, as in a kind of 'geomagnetic spectrometer'; (3) the creation of 'supersonic' ion outflows as a natural velocity-filter effect of this geomagnetic spectrometer; and (4) the 'parabolic flow' of gravitationally bound heavy ions from the cleft ionosphere resulting in downward flow into the polar cap.

  14. Progress toward discerning the genetics of cleft lip

    PubMed Central

    Lidral, Andrew C.; Moreno, Lina M.

    2009-01-01

    Purpose of review Orofacial clefts are common birth defects with a known genetic component to their etiology. Most orofacial clefts are nonsyndromic, isolated defects, which can be separated into two different phenotypes: (1) cleft lip with or without cleft palate and (2) cleft palate only. Both are genetically complex traits, which has limited the ability to identify disease loci or genes. The purpose of this review is to summarize recent progress of human genetic studies in identifying causal genes for isolated or nonsyndromic cleft lip with or without cleft palate. Recent findings The results of multiple genome scans and a subsequent meta-analysis have significantly advanced our knowledge by revealing novel loci. Furthermore, candidate gene approaches have identified important roles for IRF6 and MSX1. To date, causal mutations with a known functional effect have not yet been described. Summary With the implementation of genome-wide association studies and inexpensive sequencing, future studies will identify disease genes and characterize both gene–environment and gene–gene interactions to provide knowledge for risk counseling and the development of preventive therapies. PMID:16282779

  15. Cleft palate cells can regenerate a palatal mucosa in vitro.

    PubMed

    Liu, J; Lamme, E N; Steegers-Theunissen, R P M; Krapels, I P C; Bian, Z; Marres, H; Spauwen, P H M; Kuijpers-Jagtman, A M; Von den Hoff, J W

    2008-08-01

    Cleft palate repair leaves full-thickness mucosal defects on the palate. Healing might be improved by implantation of a mucosal substitute. However, the genetic and phenotypic deviations of cleft palate cells may hamper tissue engineering. The aim of this study was to construct mucosal substitutes from cleft palate cells, and to compare these with substitutes from normal palatal cells, and with native palatal mucosa. Biopsies from the palatal mucosa of eight children with cleft palate and eight age-matched control individuals were taken. Three biopsies of both groups were processed for (immuno)histochemistry; 5 were used to culture mucosal substitutes. Histology showed that the substitutes from cleft-palate and non-cleft-palate cells were comparable, but the number of cell layers was less than in native palatal mucosa. All epithelial layers in native palatal mucosa and mucosal substitutes expressed the cytokeratins 5, 10, and 16, and the proliferation marker Ki67. Heparan sulphate and decorin were present in the basal membrane and the underlying connective tissue, respectively. We conclude that mucosal cells from children with cleft palate can regenerate an oral mucosa in vitro. PMID:18650554

  16. Correction of alveolar cleft with calcium-based bone substitutes.

    PubMed

    Lazarou, Spiros A; Contodimos, George B; Gkegkes, Ioannis D

    2011-05-01

    The criterion standard of alveolar cleft repair is iliac crest bone graft before secondary canine eruption. Tooth eruption has never been shown to occur in synthetic bone substitute, and there is no ideal autologous bone graft for primary repair. This prospective study evaluated alveolar cleft grafting with a calcium substitute before primary canine eruption. Ten consecutive patients with complete cleft lip, palate, and unilateral alveolar cleft with reasonably aligned arches were grafted beginning in January 2003 to March 2007. Mean age at surgery was 10.4 months. Follow-up ranged from 3 to 7 years. Radiologic evaluation of alveolar ridge was performed at the age of 4.All 10 patients were operated on by the same surgeon using the same technique, that is, conservative elevation of nasal, oral, and anterior alveolar mucosal flaps around the cleft, closure of nasal and oral flaps, placement of 1 to 3 mL of calcium substitute paste or crystals in the pocket, and closure of the anterior alveolar mucosa. All 10 patients healed without complication. Clinical evaluation revealed a well-healed arch with primary canine growth in the area of the previous cleft. Adequate normal bone formation and often a descending secondary canine were radiologically confirmed. Calcium substitutes offer significant advantages over other biomaterials as well as autologous bone grafts particularly in the primary alveolar cleft reconstruction. Our study has shown for the first time that teeth can erupt through this material, which turns into a normal functioning bone in the alveolar ridge. PMID:21558929

  17. Unfavourable results in the repair of the cleft lip

    PubMed Central

    Narayanan, Puthucode V.; Adenwalla, Hirji Sorab

    2013-01-01

    Introduction: Unfavorable results in unilateral and bilateral cleft lip repair are often easy to spot but not always easy to prevent as to treat. We have tried to deal with the more common problems and explain possible causes and the best possible management options from our experience. Unilateral cleft lip repair: Unfavorable results immediately after repair involve Dehiscence and Scaring. Delayed blemishes include vermillion notching, a short lip, deficiency in the height of the lateral vermillion on the cleft side, white roll malalignment, oro-vestibular fistula, the cleft lip nose deformity, a narrow nostril and a “high-riding” nostril. We analyze the causes of these blemishes and outline our views regarding the treatment of these. Bilateral cleft lip: Immediate problems again include dehiscence as also loss of prolabium or premaxilla. Delayed unfavorable results are central vermillion deficiency, a lip that is too tight, bilateral cleft lip nose deformity, problems with the premaxilla and maxillary growth disturbances. Here again we discuss the causation of these problems and our preferred methods of treatment. Conclusion: We have detailed the significant unfavorable results after unilateral and bilateral cleft lip surgery. The methods of treatment advocated have been layer from our own experience. PMID:24501453

  18. Clinical Features and Management of a Median Cleft Lip

    PubMed Central

    Kim, Do Yeon; Oh, Tae Suk

    2016-01-01

    Background Median cleft lip is a rare anomaly consisting of a midline vertical cleft through the upper lip. It can also involve the premaxillary bone, the nasal septum, and the central nervous system. In our current report, we present the clinical features of 6 patients with a median cleft lip and their surgical management according to the accompanying anomalies. Methods From December 2010 to January 2014, 6 patients with a median cleft lip were reviewed. Five of these cases underwent surgical correction; alveolar bone grafting was performed in a patient with a median alveolar cleft. The surgical technique included inverted-U excision of the upper lip and repair of the orbicularis oris muscle. The mean follow-up period was 20.4 months (range, 7.4–44.0 months). Results The study patients presented various anomalous features. Five patients received surgical correction, 4 with repair of the median cleft lip, and one with iliac bone grafting for median alveolar cleft. A patient with basal sphenoethmoidal meningocele was managed with transoral endoscopic surgery for repair of the meningocele. Successful surgical repair was achieved in all cases with no postoperative complications. Conclusions Relatively mild forms of median cleft lip can be corrected with inverted-U excision with good aesthetic outcomes. In addition, there is a broad spectrum of clinical features and various anomalies, such as nasal deformity, alveolar cleft, and short upper frenulum, which require close evaluation. The timing of the operation should be decided considering the presence of other anomalies that can threaten patient survival. PMID:27218021

  19. Nonsyndromic cleft lip with or without cleft palate: New BCL3 information

    SciTech Connect

    Amos, C.; Hecht, J.T.; Gasser, D.

    1996-09-01

    We did not previously provide LOD scores for linkage assuming heterogeneity, as suggested by Ott for the linkage analysis of cleft lip with or without cleft palate (CL/P) and BCL3, ApoC2, and D19S178 in the paper by Stein et al. The results from analysis using the HOMOG program, allowing for heterogeneity under the reduced penetrance model, gave a maximum LOD score of 1.85 for ApoC2, 0.41 for BCL3, 0.03 for D19S178, and 1.72 for multipoint analysis in the interval. For the affecteds-only model, the values are 1.96 for ApoC2, 0.41 for BCL3, 0.01 for D19S178, and 1.44 for the multipoint analysis. 8 refs.

  20. Cortical Clefts and Cortical Bumps: A Continuous Spectrum

    PubMed Central

    Furruqh, Farha; Thirunavukarasu, Suresh; Vivekandan, Ravichandran

    2016-01-01

    Cortical ‘clefts’ (schizencephaly) and cortical ‘bumps’ (polymicrogyria) are malformations arising due to defects in postmigrational development of neurons. They are frequently encountered together, with schizencephalic clefts being lined by polymicrogyria. We present the case of an eight-year-old boy who presented with seizures. Imaging revealed closed lip schizencephaly, polymicrogyria and a deep ‘incomplete’ cleft lined by polymicrogyria not communicating with the lateral ventricle. We speculate that hypoperfusion or ischaemic cortical injury during neuronal development may lead to a spectrum of malformations ranging from polymicrogyria to incomplete cortical clefts to schizencephaly.

  1. Midface fracture in an unoperated adult patient with cleft palate

    PubMed Central

    Pathak, Sanyog; Baliga, Shridhar; Kotrashetti, Sharadaindu Mahadevappa; Pillai, Ajay

    2014-01-01

    In western countries, it is hard to find an unoperated cleft palate due to better healthcare services and awareness. Here, we present an unoperated adult case of cleft palate that had midfacial fractures following a road traffic accident. The patient's cleft lip was repaired when he was 2 years old but the palate was not operated because of poor follow-up. We would like to share the difficulties encountered in diagnosis and treatment planning for this rare kind of trauma case. After routine investigations, a palatal acrylic splint was constructed for fixation and an acceptable degree of function and aesthetics was achieved postoperatively. PMID:25150231

  2. Presurgical nasal moulding in a neonate with cleft lip

    PubMed Central

    Deshpande, Anshula; Shah, Dixit; Macwan, Chirag S

    2014-01-01

    The concept of presurgical nasoalveolar moulding (PNM) was developed to improve the aesthetic result of surgically corrected cleft lip. This paper presents the method of fabrication of PNM appliance and the case of a 30-day-old neonate with unilateral cleft lip in whom nasal moulding was performed. Treatment was initiated at 30 days and continued for 60 days after which the surgical correction of cleft lip was performed. Significant improvement in aesthetics and symmetry of the nose was achieved at the end of the treatment. PMID:24928928

  3. Assessing Angle's malocclusion among cleft lip and/or palate patients in Jammu

    PubMed Central

    Gupta, Akshay; Gupta, Anur; Bhardwaj, Amit; Vikram, S.; Gomathi, Ajeetha; Singh, Karanprakash

    2016-01-01

    Objective: The study was conducted to examine the patients with abnormalities of cleft lip and/or palate and its association with different types of malocclusion. Materials and Methods: This descriptive study was done among 168 patients with abnormalities of cleft lip and/or palate. Angle's classification of malocclusion was applied for assessment of occlusion as Class I, Class II, and Class III. The types of oral clefts classification such as cleft lip unilateral and cleft lip bilateral, cleft palate (CP), unilateral cleft lip with palate (UCLP) and bilateral cleft lip with palate (BCLP) was considered. Chi-square test was applied to analyze the data at P < 0.05. Results: The study showed different categories of clefts patients as cleft lip (81), CP (31), and both cleft lip and palate (53). The occurrence of unilateral cleft lip (44) was maximum among the sample followed by UCLP (39), and bilateral cleft lip (31). Maximum subjects with Class II (10.7%) and Class III (4.9%) malocclusion were seen with unilateral cleft lip deformities. None of the patients with UCLP had Class III malocclusion. Conclusion: Cleft lip was the most commonly observed deformity and high frequency of Class II and III malocclusion was evident. Therefore, patients with such abnormalities should be screened timely. PMID:27195223

  4. Cleft characteristics and treatment outcomes in hemifacial microsomia compared to non-syndromic cleft lip/palate.

    PubMed

    Dentino, K M; Valstar, A; Padwa, B L

    2016-06-01

    The goal of this study was to describe the clinical characteristics and treatment outcomes of patients with hemifacial microsomia (HFM) and cleft lip/palate (CL/P), and to compare them to a historic cohort of patients with non-syndromic CL/P treated at the same centre. A retrospective review of patients with HFM and CL/P was performed; the main outcome measures assessed were cleft type/side, surgical outcome, midfacial retrusion, and speech. Twenty-six patients (13 male, 13 female; mean age 22.7±14.9, range 1-52 years) with cleft lip with/without cleft palate (CL±P) were identified: three with cleft lip (12%), two with cleft lip and alveolus and an intact secondary palate (8%), and 21 with cleft lip and palate (CLP) (81%; 15 unilateral and six bilateral). Four patients (19%) had a palatal fistula after palatoplasty. Twelve of 22 patients aged >5 years (55%) had midfacial retrusion and two (9%) required a pharyngeal flap for velopharyngeal insufficiency (VPI). Fisher's exact test demonstrated a higher frequency of complete labial clefting (P=0.004), CLP (P=0.009), midfacial retrusion (P=0.0009), and postoperative palatal fistula (P=0.03) in HFM compared to non-syndromic CL±P. There was no difference in VPI prevalence. This study revealed that patients with HFM and CL±P have more severe forms of orofacial clefting than patients with non-syndromic CL±P. Patients with HFM and CL±P have more severe midfacial retrusion and a higher palatal fistula rate compared to patients with non-syndromic CL±P. PMID:26775633

  5. Reconstruction of Congenital Nose, Cleft Primary Palate, and Lip Disorders.

    PubMed

    Fiani, Nadine; Verstraete, Frank J M; Arzi, Boaz

    2016-07-01

    Clefts of the primary palate in the dog are uncommon, and their repair can be challenging. The aims of this article are to provide information regarding pathogenesis and convey practical information for the repair of these defects. PMID:26965528

  6. Computational Embryology and Predictive Toxicology of Cleft Palate

    EPA Science Inventory

    Capacity to model and simulate key events in developmental toxicity using computational systems biology and biological knowledge steps closer to hazard identification across the vast landscape of untested environmental chemicals. In this context, we chose cleft palate as a model ...

  7. Ankyloglossia with cleft lip: A rare case report.

    PubMed

    Jangid, Kritika; Alexander, Aurelian Jovita; Jayakumar, Nadathur Doraiswamy; Varghese, Sheeja; Ramani, Pratibha

    2015-01-01

    Ankyloglossia or tongue-tie is a congenital anomaly affecting the tongue, which is characterized by thick, short lingual frenulum. This condition causes many difficulties such as limited tongue protrusion, breastfeeding difficulties, speech impairment and lack of self-confidence. It is very rarely associated with any other congenital craniofacial disorders such as cleft lip, X-linked cleft palate, Van der Woude syndrome, Smith-Lemli-Opitz syndrome, Orofacial digital syndrome, Beckwith Weidman syndrome or Simpson-Golabi-Behmel syndrome. This article presents a rare case of ankyloglossia associated with cleft lip treated with diode laser in a 12-year-old Indian boy who had undergone surgical correction of associated cleft lip soon after birth. Correction of ankyloglossia at a young age would lead to enhanced phonetics, improved oral hygiene, and overall personality development. PMID:26941523

  8. Ankyloglossia with cleft lip: A rare case report

    PubMed Central

    Jangid, Kritika; Alexander, Aurelian Jovita; Jayakumar, Nadathur Doraiswamy; Varghese, Sheeja; Ramani, Pratibha

    2015-01-01

    Ankyloglossia or tongue-tie is a congenital anomaly affecting the tongue, which is characterized by thick, short lingual frenulum. This condition causes many difficulties such as limited tongue protrusion, breastfeeding difficulties, speech impairment and lack of self-confidence. It is very rarely associated with any other congenital craniofacial disorders such as cleft lip, X-linked cleft palate, Van der Woude syndrome, Smith-Lemli-Opitz syndrome, Orofacial digital syndrome, Beckwith Weidman syndrome or Simpson-Golabi-Behmel syndrome. This article presents a rare case of ankyloglossia associated with cleft lip treated with diode laser in a 12-year-old Indian boy who had undergone surgical correction of associated cleft lip soon after birth. Correction of ankyloglossia at a young age would lead to enhanced phonetics, improved oral hygiene, and overall personality development. PMID:26941523

  9. Proteomic Analysis of Unbounded Cellular Compartments: Synaptic Clefts.

    PubMed

    Loh, Ken H; Stawski, Philipp S; Draycott, Austin S; Udeshi, Namrata D; Lehrman, Emily K; Wilton, Daniel K; Svinkina, Tanya; Deerinck, Thomas J; Ellisman, Mark H; Stevens, Beth; Carr, Steven A; Ting, Alice Y

    2016-08-25

    Cellular compartments that cannot be biochemically isolated are challenging to characterize. Here we demonstrate the proteomic characterization of the synaptic clefts that exist at both excitatory and inhibitory synapses. Normal brain function relies on the careful balance of these opposing neural connections, and understanding how this balance is achieved relies on knowledge of their protein compositions. Using a spatially restricted enzymatic tagging strategy, we mapped the proteomes of two of the most common excitatory and inhibitory synaptic clefts in living neurons. These proteomes reveal dozens of synaptic candidates and assign numerous known synaptic proteins to a specific cleft type. The molecular differentiation of each cleft allowed us to identify Mdga2 as a potential specificity factor influencing Neuroligin-2's recruitment of presynaptic neurotransmitters at inhibitory synapses. PMID:27565350

  10. EXPERIMENTAL MODELS FOR THE STUDY OF ORAL CLEFTS

    EPA Science Inventory

    Toxicology and teratology studies routinely utilize animal models to determine the potential for chemical and physical agents to produce reproductive and developmental toxicity, including birth defects such as cleft palate. The standardized teratology screen typically tests co...

  11. Un Futuro Prometedor para su Nino con Labio Hendido y Paladar Hendido. Edicion Refundida (Bright Promise for Your Child with Cleft Lip and Cleft Palate. Revised Edition).

    ERIC Educational Resources Information Center

    McDonald, Eugene T.; Berlin, Asa J.

    The booklet, written in Spanish, is intended to help parents of babies with cleft lip and/or cleft palate. Topics covered include the sequence of prenatal development and the effects of birth defects, common misconceptions about what causes the conditions, possible hereditary and environmental causes, and what it means to have a cleft palate or a…

  12. An extraorally activated expansion appliance for cleft palate infants.

    PubMed

    Latham, R A; Kusy, R P; Georgiade, N G

    1976-07-01

    A new lever-action expansion appliance is described which is designed specifically for use in infants with cleft lip and palate. An extraoral control knob allows for easy activation, while the important anterior cleft areas are left clear for premaxillary repositioning and clinical assessment. Activation is registered by a positive clicking sound. Rapid expansion is made possible by the design of the appliance which is retained by stainless steel pins. PMID:780004

  13. Congenital Palatal Fistula Associated with Submucous Cleft Palate

    PubMed Central

    Eshete, Mekonen; Camison, Liliana; Abate, Fikre; Hailu, Taye; Demissie, Yohannes; Mohammed, Ibrahim; Butali, Azeez; Losken, H. Wolfgang

    2016-01-01

    Background: Although cleft lip and cleft palate are among the most common congenital malformations, the presence of an isolated congenital palatal fistula along with a submucous cleft is very rare. This appears as an oval-shaped, full-thickness fenestration in the palatal midline that does not fully extend anteriorly or posteriorly, accompanied by the findings of a submucous cleft. Because of the uncommon nature of this entity, there is controversy about its etiology, diagnosis, and management. Methods: Two cases of children with congenital palatal fistulae and a submucous cleft palate are presented who were treated in different settings by different surgeons. Cases are discussed along with a thorough review of the available literature. Results: Patient 1 presented at 4 years of age with “a hole in the palate” since birth and abnormal speech. His palatal fistula and submucous cleft were repaired with a modified von Langenbeck technique in Ethiopia. At a 2-year follow-up, the palate remained closed, but hypernasal speech persisted. Patient 2 was a 1-year-old presenting with failure to thrive and nasal regurgitation, who underwent a Furlow palatoplasty in the United States with good immediate results. She was unfortunately lost to follow-up. Conclusions: A congenital fenestration of the palate is rare. Reports reveal suboptimal speech at follow-up, despite various types of repair, especially when combined with a submucous cleft. Available literature suggests that repair should not focus on fistula closure only but instead on providing adequate palate length to provide good velopharyngeal function, as in any cleft palate repair. PMID:27014542

  14. Syntelencephaly associated with connected transhemispheric cleft of focal cortical dysplasia.

    PubMed

    Fujimoto, S; Togari, H; Banno, T; Wada, Y

    1999-05-01

    The authors report a female with syntelencephaly associated with a connected transhemispheric cleft of focal cortical dysplasia. Syntelencephaly is a rare anomaly characterized by fusion of the hemispheres in the posterior frontal and parietal regions and is considered a new variant of holoprosencephaly. Cranial magnetic resonance imaging of the patient revealed syntelencephaly associated with bilateral fused clefts of focal cortical dysplasia without the pial-ependymal seam, which was regarded as an incomplete type of schizencephaly. The underlying mechanism is discussed. PMID:10371387

  15. Beware of "curare cleft" like changes during unilateral capnothorax.

    PubMed

    Singh, Manila; Chaudhary, Kapil; Uppal, Rajeev; Jain, Sachin

    2014-06-01

    Capnography is a standard monitoring tool during general anaesthesia. Diaphragmatic movement with the weaning of muscle relaxant effect produces the characteristic "curare cleft" on capnography. Various artefacts can mimick this trace intraoperatively. Cautious interpretation and identification of these is essential to avoid any undue overdosing of the patients with muscle relaxants. We report "curare cleft" like artefact during ventilation with a single lumen tube in a patient with unilateral capnothorax undergoing minimally invasive esophagectomy. PMID:24132805

  16. 22q11 chromosome abnormalities and the cleft service.

    PubMed

    Nugent, N; McGillivary, A; Earley, M J

    2010-04-01

    Deletion of chromosome 22q11 gives rise to a spectrum of anomalies, including cleft palate. These are grouped together as the DiGeorge or velocardiofacial syndrome. Patients with this chromosomal abnormality account for a small, but noteworthy proportion of patients attending our cleft service. They frequently have other significant comorbidities consistent with their diagnosis. Over a ten-year period, 16 patients within our cleft service have been diagnosed, using chromosome analysis, as having deletions at 22q11. All had either a cleft palate and/or velopharyngeal incompetence, for which they underwent repair of the cleft palate or pharyngoplasty. Several have required secondary palate surgery following initial palate surgery. Poor quality of speech was the indication for secondary procedures in the majority of cases. Fourteen of the 16 have other comorbidities, ranging from congenital heart disease to ocular abnormalities. In addition, 15 of the 16 have developmental delays and/or learning difficulties. Other specialties, such as ENT, cardiology, genetics and ophthalmology have been involved in the care of all these patients. Although comprising only a small proportion of patients attending a cleft team, the diagnosis of this chromosomal abnormality is significant, as these patients may require substantial input of resources and the expertise of several specialties. Early recognition of features of this entity and diagnosis can aid more efficient intervention. PMID:19249264

  17. Is alveolar cleft reconstruction still controversial? (Review of literature)

    PubMed Central

    Seifeldin, Sameh A.

    2015-01-01

    Cleft lip and palate (CL/P) is a frequent congenital malformation that manifests in several varieties including unilateral or bilateral and complete or incomplete. Alveolar cleft reconstruction remains controversial with regard to timing, graft materials, surgical techniques, and methods of evaluation. Many studies have been conducted addressing these points to develop an acceptable universal protocol for managing CL/P. The primary goal of alveolar cleft reconstruction in CL/P patients is to provide a bony bridge at the cleft site that allows maxillary arch continuity, oronasal fistula repair, eruption of the permanent dentition into the newly formed bone, enhances nasal symmetry through providing alar base support, orthodontic movement and placement of osseointegrated implants when indicated. Other goals include improving speech, improvement of periodontal conditions, establishing better oral hygiene, and limiting growth disturbances. In order to rehabilitate oral function in CL/P patients alveolar bone grafting is necessary. Secondary bone grafting is the most widely accepted method for treating alveolar clefts. Autogenous bone graft is the primary source for reconstructing alveolar cleft defects and is currently the preferred grafting material. PMID:26792963

  18. Cleft lip and palate in a Brazilian subpopulation

    PubMed Central

    Cuozzo, Fernanda Dornelles Martins; Espinosa, Mariano Martínez; da Silva, Katia Tavares Serafim; de Barros, Yolanda Benedita Abadia Martins; Bandeca, Matheus Coelho; Aranha, Andreza Maria Fabio; Borges, Alvaro Henrique; Volpato, Luiz Evaristo Ricci

    2013-01-01

    Background: This work aimed to access the profile of cleft lip and palate patients of a sub-population in Mid-West Brazil. Materials & Methods: Research was carried out through a cross-sectional study at the Craniofacial Rehabilitation Center of the University General Hospital of the University of Cuiabá, Mato Grosso, Brazil. Variables related to oral cleft type, gender, race, age and presence or absence of associated congenital anomalies or syndromes were analyzed. Results: 313 patients treated at the institution from 2004 to 2007 were recruited. There were 54% male and 46% female patients with the mean age of 11.4 years. Cleft lip and palate was the most prevalent alteration in 49.6% of cases. Caucasians were the most affected in 54.6% of cases. 6.4% of patients had other anomalies or syndromes associated with cleft. Conclusion: More comprehensive surveys should be conducted in order to supply the lack of data on the occurrence and determinants of oral clefts in this region. How to cite this article:Cuozzo FD, Espinosa MM, Serafim da Silva KT, Martins de Barros YB, Bandeca MC, Aranha AM, Borges AH, Volpato LE. Cleft lip and palate in a Brazilian subpopulation. J Int Oral Health 2013; 5(4):15-20. PMID:24155614

  19. [Management of nasolabial clefts: the issue in Dakar].

    PubMed

    Sankale, A-A; Ndiaye, A; Baillet, A; Ndiaye, L; Ndoye, M

    2012-06-01

    The management of patients with a cleft lip in developing countries is often the prerogative of humanitarian missions from developed countries. The goal of our work is to conduct a first epidemiological, clinical and therapeutic assessment of the management of cleft lips by a local team and to evidence the difficulties faced by us in our working conditions. In a retrospective study covering a period of about five years (January 2004 to March 2009), 205 cases of nasolabial clefts are assembled. The mean age at the time of the first visit is 17 months. A slight female predominance is observed. The majority of patients are from the capital city. A close relative with a cleft is found in 6.8% of them. In 44.9% of cases, it is a simple cleft lip. A cleft palate is associated in 47.8% of cases. Associated malformations are observed in 10.5% of cases. We operated on 110 patients. The mean age at the first surgery is two years. Millard's technique is our technique of choice. No operative mortality is observed. In 17.4% of cases, operative morbidity occurred in the form of suppuration with partial or complete early suture release. The esthetic result is satisfactory in 67.7% of cases. This management could be improved by creating a multidisciplinary team including--in addition to surgeons--dentists, speech-language pathologists, psychologists, etc. PMID:21715075

  20. 3D finite element model for treatment of cleft lip

    NASA Astrophysics Data System (ADS)

    Jiao, Chun; Hong, Dongming; Lu, Hongbing; Wang, Jianqi; Lin, Qin; Liang, Zhengrong

    2009-02-01

    Cleft lip is a congenital facial deformity with high occurrence rate in China. Surgical procedure involving Millard or Tennison methods is usually employed for treatment of cleft lip. However, due to the elasticity of the soft tissues and the mechanical interaction between skin and maxillary, the occurrence rate of facial abnormality or dehisce is still high after the surgery, leading to multiple operations of the patient. In this study, a framework of constructing a realistic 3D finite element model (FEM) for the treatment of cleft lip has been established. It consists of two major steps. The first one is the reconstruction of a 3D geometrical model of the cleft lip from scanning CT data. The second step is the build-up of a FEM for cleft lip using the geometric model, where the material property of all the tetrahedrons was calculated from the CT densities directly using an empirical curve. The simulation results demonstrated (1) the deformation procedure of the model step-by-step when forces were applied, (2) the stress distribution inside the model, and (3) the displacement of all elements in the model. With the computer simulation, the minimal force of having the cleft be repaired is predicted, as well as whether a given force sufficient for the treatment of a specific individual. It indicates that the proposed framework could integrate the treatment planning with stress analysis based on a realistic patient model.

  1. Citation Characteristics of Research Articles under the Center of Cleft Lip-Cleft Palate and Craniofacial Deformities, Khon Kaen University.

    PubMed

    Thanapaisal, Soodjai; Thanapaisal, Chaiwit; Thanapaisal, Sukhumal

    2015-08-01

    Center of Cleft Lip-Cleft Palate and Craniofacial Deformities, Khon Kaen University, has cooperated with the Medical Association of Thailand in publishing the special five issues of JMT (Journal of the Medical Association of Thailand) during the years 2010-2014 in order to promote research activities and working network of related fields in cleft lip-cleft palate and craniofacial deformities. This study aimed to examine the features of 106 research articles in terms of authors and disciplines, and analyze the citations considering sources, country and years after publication. The scope of study also included citations in the form of journal, which was presented as journal ranking compared with impact factors and Bradford's Law on journal citation. The results of study will be useful in developing multidisciplinary research activities of the center and especially assist in the acquisition of academic journals for essential sources of reference. PMID:26742377

  2. Genetic Determinants of Facial Clefting: Analysis of 357 Candidate Genes Using Two National Cleft Studies from Scandinavia

    PubMed Central

    Gjessing, Håkon Kristian; Lie, Rolv Terje; Wilcox, Allen James; Weinberg, Clarice Ring; Christensen, Kaare; Boyles, Abee Lowman; Daack-Hirsch, Sandra; Trung, Truc Nguyen; Bille, Camilla; Lidral, Andrew Carl; Murray, Jeffrey Clark

    2009-01-01

    Background Facial clefts are common birth defects with a strong genetic component. To identify fetal genetic risk factors for clefting, 1536 SNPs in 357 candidate genes were genotyped in two population-based samples from Scandinavia (Norway: 562 case-parent and 592 control-parent triads; Denmark: 235 case-parent triads). Methodology/Principal Findings We used two complementary statistical methods, TRIMM and HAPLIN, to look for associations across these two national samples. TRIMM tests for association in each gene by using multi-SNP genotypes from case-parent triads directly without the need to infer haplotypes. HAPLIN on the other hand estimates the full haplotype distribution over a set of SNPs and estimates relative risks associated with each haplotype. For isolated cleft lip with or without cleft palate (I-CL/P), TRIMM and HAPLIN both identified significant associations with IRF6 and ADH1C in both populations, but only HAPLIN found an association with FGF12. For isolated cleft palate (I-CP), TRIMM found associations with ALX3, MKX, and PDGFC in both populations, but only the association with PDGFC was identified by HAPLIN. In addition, HAPLIN identified an association with ETV5 that was not detected by TRIMM. Conclusion/Significance Strong associations with seven genes were replicated in the Scandinavian samples and our approach effectively replicated the strongest previously known association in clefting—with IRF6. Based on two national cleft cohorts of similar ancestry, two robust statistical methods and a large panel of SNPs in the most promising cleft candidate genes to date, this study identified a previously unknown association with clefting for ADH1C and provides additional candidates and analytic approaches to advance the field. PMID:19401770

  3. Cleft and Craniofacial Mission Care: Management of Facial Clefts: International Missions.

    PubMed

    Moses, Jeffrey J; Rochelle, Whitney J

    2016-05-01

    This article guides readers in the venture of creating, funding, or volunteering with a facial-cleft mission treatment team. This outline is intended to emphasize longitudinal care for all patients. Advanced planning is key to mission success. Part of this is researching and becoming familiar with the safety, regulations, culture, facilities available, and local service organizations. Many of the service organizations listed in this article have valuable contacts with local dentists and surgeons within the community. They also have insight into the local facilities, hospitals, water sources, sanitation conditions, and equipment potential. PMID:27150306

  4. Ion energization in upwelling ion events

    NASA Technical Reports Server (NTRS)

    Waite, J. H., Jr.; Moore, T. E.; Chandler, M. O.; Lockwood, M.; Persoon, A.; Suguira, M.

    1986-01-01

    A source of H(+), He(+), O(+), and N(+) outflow from the ionosphere has been identified near the polar cusp/cleft using the Dynamics Explorer/retarding ion mass spectrometer data set. This ion outflow termed 'upwelling ions' is characterized by large outfluxes of H(+) and O(+) ions and high transverse ion temperatures. This paper reports on the associated particle and field characteristics of one such upwelling ion event on March 12, 1982. Field-aligned currents and strong E x B convection channels are associated with the event as well as strong broadband plasma wave emission. One or all of these sources may play an important role in the ion energization in this region.

  5. Cleft lip with or without cleft palate in Shanghai, China: Evidence for an autosomal major locus

    SciTech Connect

    Marazita, M.L. ); Hu, Dan-Ning; Liu, You-E. ); Spence, A. ); Melnick, M. )

    1992-09-01

    Orientals are at higher risk for cleft lip with our without cleft palate (CL[+-] P) than Caucasians or blacks. The authors collected demographic and family data to study factors contributing to the etiology of CL[+-]P in Shanghai. The birth incidence of nonsyndromic CL[+-]P (SHanghai 1980-87) was 1.11/1,000, with a male/female ratio of 1.42. Almost 2,000 nonsyndromic CL[+-]P probands were ascertained from individuals operated on during the years 1956-83 at surgical hospitals in Shanghai. Detailed family histories and medical examinations were obtained for the probands and all available family members. Genetic analysis of the probands' families were performed under the mixed model with major locus (ML) and multifactorial (MFT) components. The hypothesis of no familial transmission and of MFT alone could be rejected. Of the ML models, the autosomal recessive was significantly most likely and was assumed for testing three complex hypothesis: (1) ML and sporadics; (2) ML and MFT; (3) ML, MFT, and sporadics. None of the complex models were more likely than the ML alone model. In conclusion, the best-fitting, most parsimonious model for CL[+-]P in Shanghai was that of an autosomal recessive major locus. 37 refs., 1 tab.

  6. Craniofacial pattern of parents of children having cleft lip and/or cleft palate anomaly.

    PubMed

    Raghavan, R; Sidhu, S S; Kharbanda, O P

    1994-01-01

    The craniofacial patterns of 38 sets of parents who had children with cleft lip and/or cleft palate anomalies (experimental group) were compared with the 24 sets of parents of healthy (noncleft) children (control group). Using a computerized program, 248 cephalograms (124 lateral and 124 frontal) were digitized and analyzed. The parents in the experimental group exhibited a distinct craniofacial morphology, including a significant decrease in upper anterior facial height (N-Ans) and total anterior face height (V-Gn). Anterior nasal spine (Ans) and maxillary alveolar process (A) were positioned more anteriorly and superiorly in the experimental group, which contributed to a significant increase in the length of the palate (Ans-Pns) and an anterosuperior rotation of the palatal plane. The cranial base angle in the experimental group was significantly obtuse and the articular angle was smaller than that of the controls. The counterclockwise rotation of the mandible was mitigated by a significant increase in the gonial angle. Parents in the experimental group also tended to have faces which were smaller in both transverse and vertical dimensions. PMID:8010522

  7. Facial clefting and oroauditory pathway manifestations in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome.

    PubMed

    Cole, Patrick; Hatef, Daniel A; Kaufman, Yoav; Magruder, Amy; Bree, Alanna; Friedman, Ellen; Sindwani, Raj; Hollier, Larry H

    2009-09-01

    Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) Syndrome is a rare disorder characterized by ectodermal dysplasia, along with other malformations such as cleft lip and palate, and various secondary issues such as chronic sinusitis, otitis media, and conductive hearing loss (CHL). The International Research Symposium for AEC Syndrome convened at Baylor College of Medicine in Houston, Texas. Patients with a suspected diagnosis of AEC syndrome attended, and members of the dental, dermatology, plastic surgery, otolaryngology, and audiology services examined each patient. Eighteen patients with a diagnosis of AEC were evaluated. Mean age was 7.5 years (range: 4 months-30 years). Fourteen of the 15 subjects tested (93.33%) demonstrated CHL, with seven showing moderate to severe hearing deficits (41-90 dB). Nine of 13 respondents reported hoarseness or voice problems; 8 were noted to display this on examination. Fourteen of 16 subjects reported speech was below average for age; 8 were in speech therapy. All 18 subjects reported a history of otitis externa or otitis media. Eleven of the subjects (61.11%) required myringotomy and pressure equalizing (PE) tubes. All patients demonstrated cleft palate defects. Of these, 16 (94.11%) presented with clefting of the soft palate, and 10 (58.82%) showed hard palate defects. Three subjects (16.67%) were noted to have submucous clefts. Our experience leads us to propose that while the oroauditory problems in those with AEC syndrome is likely multifactorial, many issues may stem from palatal clefting. Despite this, some abnormalities persist following surgical cleft closure, which indicates other complicating factors are also involved. PMID:19697430

  8. Exclusion of linkage between cleft lip with or without cleft palate and markers on chromosomes 4 and 6

    SciTech Connect

    Blanton, S.H.; Malcolm, S.; Winter, R.

    1996-01-01

    Nonsyndromic cleft lip with or without associate cleft palate (CLP) is a common craniofacial defect, occurring in {approximately}1/1,000 live births. While the defect generally occurs sporadically, multiplex families have been reported. Segregation analyses have demonstrated that, in some families, CLP is inherited as an autosomal dominant/codominant disorder with low penetrance. Several clefting loci have been proposed on multiple chromosomes, including 6p24, 4q, and 19q13.1. Association studies and linkage studies suggested a locus that mapped to 6p24. We were unable to confirm this in a linkage study of 12 multigenerational families. A subsequent linkage study by Carinci et al., however, found evidence for linkage to this region in 14 of 21 clefting families. Additionally, Davies et al. studied the chromosomes of three individuals with cleft lip and palate, all of whom had a rearrangement involving 6p24. Their investigation supported a locus at 6p24. Carinci et al. reported that the most likely position for a clefting locus was at D6S89, which is centromeric to EDN1. This is in contrast to the findings of Davies et al., who suggested a placement telomeric to EDN1. F13A, which had been implicated in the initial association studies, is telomeric to EDN1. Thus, the region between F13A and D6S89 encompasses the regions proposed by both Davies et al. and Carinci et al. A second clefting locus, at 4q, was proposed by Beiraghi et al., who studied a single multigenerational family by linkage analysis. Their data suggested a locus near D4S175 and D4S192. 10 refs., 1 tab.

  9. Association of BMP4 polymorphisms with non-syndromic cleft lip with or without cleft palate and isolated cleft palate in Latvian and Lithuanian populations.

    PubMed

    Kempa, Inga; Ambrozaitytė, Laima; Stavusis, Janis; Akota, Ilze; Barkane, Biruta; Krumina, Astrida; Matulevičienė, Aušra; Utkus, Algirdas; Kučinskas, Vaidutis; Lace, Baiba

    2014-01-01

    Cleft lip with or without cleft palate (CLP and CL, respectively) and isolated cleft palate (CP) represent one of the most common human birth defects, with a prevalence of approximately 1 in 300-2500 depending on the population. Formation of non-syndromic CL/CLP and CP arises from the interaction of environmental and genetic factors. The objective of this study was to investigate the association between the BMP4 gene (encoding bone morphogenetic protein 4) and non-syndromic CL/CLP and CP in order to clarify the role of this gene in the aetiology of the malformation in Latvian and Lithuanian populations. We genotyped three markers of the BMP4 gene (rs17563, rs2071047 and rs1957860) in order to perform single marker and haplotype association analyses for Latvian and Lithuanian non-syndromic CL/CLP and CP patients and controls. Transmission disequilibrium test was also conducted for Latvian and Lithuanian proband-parent trios. The case-control analysis revealed that SNP rs2071047 allele A was associated with a decreased risk of CL/CLP in the Latvian population, which was confirmed by the haplotype analysis. A modest association was detected between SNP rs1957860 and CP in the Lithuanian population, where allele C was associated with a decreased risk of this cleft phenotype, corroborating haplotype analysis data. Our findings support a role of the BMP4 gene in the aetiology of non-syndromic CL/CLP and CP in the studied populations. PMID:25471993

  10. Cleft lip and palate in Madagascar 1998-2007.

    PubMed

    Rakotoarison, Richard Aurélien; Rakotoarivony, Andrianony Emmanuel; Rabesandratana, Norotiana; Razafindrabe, John Bam; Andriambololona, Raoelina; Andriambololo-Nivo, Rabetrano; Feki, Ahmed

    2012-07-01

    Our aim was to find out the prevalence of oral clefts in Madagascar, to compare it with elsewhere in the world, and to give the possible cause of the particular rate in the Vakinankaratra region where Antsirabe is situated. Data were collected from birth registers from 1998 to 2007 in the 10 most important hospitals of the 6 former provinces and of Antsirabe. A total of 150,973 consecutive live births were recorded in the 6 provinces, and 175,981 including those from Antsirabe. The general birth prevalence of oral clefts was 0.48‰ (about 1/2100, n=150,973) which was made up of 0.23‰, 0.12‰, and 0.11‰ for cleft lip and palate, isolated cleft lip, and isolated cleft palate, respectively. Prevalence was greater on the Central Highlands than in the coastal regions. Higher prevalence rates were found among girls than boys (64.4% compared with 35.6%, p<0.01). Of the clefts, 65.5% were unilateral, and left-sided ones were most common (77.8%). If the results obtained in Antsirabe are also considered, birth prevalence of oral clefts was 0.92‰ (about 1/1100, n=175,981) if Antsirabe is included, and 0.41-0.50‰ in the 6 former provinces; rates of associated, or syndromic, forms, or both, were 21.9% in the 6 provinces and 26.1% in Antsirabe. Overall, the prevalence of oral clefts in Madagascar does not differ from that in the rest of the world, except for the sex difference. There was a high prevalence of oral clefts in general and associated or syndromic forms, or both, in the Vakinankaratra region. There may be a link between these results and background high doses of ionising radiation in some areas because of the presence of former uranium mines. Further research is needed to obtain more precise data. PMID:21764188

  11. Contemporary Concepts for the Bilateral Cleft Lip and Nasal Repair

    PubMed Central

    Khosla, Rohit K.; McGregor, Jyoti; Kelley, Patrick K.; Gruss, Joseph S.

    2012-01-01

    The bilateral cleft lip and nasal deformity presents a complex challenge for repair. Surgical techniques continue to evolve and are focused on primary anatomic realignment of the tissues. This can be accomplished in a single-stage or two-stage repair early in infancy to provide a foundation for future growth of the lip and nasal tissue. Most cleft surgeons currently perform a single-stage repair for simplifying patient care. Certain institutions utilize presurgical orthopedics for alignment of the maxillary segments and nasal shaping. Methods for the bilateral cleft lip repair are combined with various open and closed rhinoplasty techniques to achieve improved correction of the primary nasal deformity. There is recent focus on shaping the nose for columellar and tip support, as well as alar contour and alar base position. The authors will present a new technique for closure of the nasal floor to prevent the alveolar cleft fistula. Although the alveolar fistula is closed, alveolar bone grafting is still required at the usual time in dental development to fuse the maxilla. It is paramount to try and minimize the stigmata of secondary deformities that historically have been characteristic of the repaired bilateral cleft lip. A properly planned and executed repair reduces the number of revisions and can spare a child from living with secondary deformities. PMID:24179448

  12. Causal attributions of cleft lip and palate across cultures.

    PubMed

    Mednick, Lauren; Snyder, Julie; Schook, Carolyn; Blood, Emily A; Brown, Shan-Estelle; Weatherley-White, R C A

    2013-11-01

    Objective : To describe and compare the causal beliefs associated with cleft lips and/or palates across several different countries. Design : Cross-sectional survey. Setting : Operation Smile surgery screenings in six developing countries. Participants : Two hundred seventy-nine adult patients and parents of children with cleft lips and/or palates in Kenya, Russia, Cambodia, India, Egypt, and Peru. Interventions : In person interviews were conducted with interpreters. Main Outcome Measure : As part of a larger study, a semistructured questionnaire was created to explore cleft perceptions, belief systems that affect these perceptions, and social reactions to individuals with clefts. Results : Causal attributions were grouped by category (environment, self-blame, supernatural, chance, unknown, or other) and type of locus of control (external, internal, or unknown). Results indicate significant difference by country for both causal attribution category (P < .001) and type (P < .001). This difference was maintained in multivariate analyses, which controlled for differences by demographic variables between countries. Conclusions : This study provides evidence that causal attributions for clefts are influenced by culture. As harmful beliefs about cause may continue to impact affected individuals and their families even after a repair, it is insufficient to provide surgical care alone. Care of the entire person must include attempts to change misinformed cultural beliefs through educating the broader community. PMID:23030676

  13. Prosthodontic treatment of the edentulous adult cleft palate patient.

    PubMed

    Sykes, Leanne M

    2003-03-01

    Clefts of the upper lip and plate are relatively common, yet dental treatment of these patients is still very poor and many grow up suffering dental neglect. Dental practitioners should become involved in the treatment team as dental needs are present from birth to death. Adult cleft patients often need tooth replacement with obturation of any residual clefts. They are best treated with tooth-supported removable appliances including partial and complete overdentures, thus preservation of their natural dentition is desirable. Edentulous cleft palate patients present with restorative difficulties due to their compromised maxillary arches as well as the presence of scar tissue in their palates and lips. An outline of these complications and guidelines for their treatment is illustrated in the form of three case reports from members of one family all presenting with varying cleft lip and palate defects. This article highlights the need for dental students to be exposed to dentally compromised patients so that they will feel confident enough to treat them in private practice. PMID:12800267

  14. Uncommon oral cleft in Wolf-Hirschhorn syndrome.

    PubMed

    Aquino, Sibele Nascimento de; Machado, Renato A; Paranaíba, Lívia Maris R; Coletta, Ricardo D; Aguiar, Marcos J Burle de; Fernandes, Cassandro; Martelli Júnior, Hercílio

    2015-01-01

    Wolf-Hirschhorn syndrome (WHS) is a syndrome with craniofacial and systemic abnormalities, which is related to 4p deletion. A 3-month old girl with an undiagnosed syndrome was referred for evaluation of the cleft lip and palate. Hypotonia, short stature, cardiac malformation, hypertrophied clitoris, and atypical thumb of both hands was observed. Microcephaly, low-set ear, prominent glabella, downslanting palpebral fissures, a characteristic "Greek warrior helmet" appearance, micrognathia, ears with pits/tags and bilateral incomplete cleft lip apart from incomplete cleft palate were observed as craniofacial findings. With clinical diagnosis of WHS, blood was subjected to karyotyping, which showed a 4p15.2 deletion, consistent with the condition. Here is reported the case of this WHS patient with an uncommon oral cleft extending the phenotypic spectrum of the disorder. The child was referred to a multidisciplinary team to reparative surgery of the cleft lip and palate. The patient is on regular medical follow-up and will be further assisted by dentists, physical therapists, occupational therapists and psychologists. The genotype-phenotype correlation of the affected patient with previous WSH syndrome reports is described. PMID:25831115

  15. Socioeconomic Measures, Orofacial Clefts, and Conotruncal Heart Defects in California

    PubMed Central

    Carmichael, Suzan L.; Ma, Chen; Shaw, Gary M.

    2010-01-01

    OBJECTIVE To examine the association of multiple measures of socioeconomic status (SES) with risks of orofacial clefts and conotruncal heart defects. DESIGN Data were from a recent population-based case-control study conducted in California that included 608 patients with orofacial clefts, 277 patients with conotruncal heart defects, and 617 nonmalformed controls. RESULTS The odds ratio for the worst versus best score on a household-level SES index was strongest for cleft lip with or without palate, at 1.7 (95% confidence interval, 0.9–3.4); the odds ratios for this comparison were closer to 1 and less precise for the other defect groups. An index based on neighborhood-level SES was also not associated with increased risk of the studied defects. CONCLUSIONS This detailed analysis of SES and selected birth defects did not suggest worse SES was associated with increased risk of the studied defects, with the possible exception of cleft lip with or without cleft palate. PMID:19645048

  16. How to make young children produce cleft sentences.

    PubMed

    Hupet, M; Tilmant, B

    1989-06-01

    The present study focuses on the effects of contextual demands on the selection of a particular syntactic device, in asking whether French-speaking children from 4 to 10 years old will spontaneously produce it-cleft sentences if there is a functional necessity arising from the context. Taking into account recent studies that have specified the discourse function(s) served by this marked sentence form, it was hypothesized that the cleft formulation would be more likely than its uncleft counterpart whenever the child's intention was to contrast their own belief or knowledge with that of their addressee. The study showed this to be the case when the matter of the disagreement concerned the agent of an action: that situation elicited an overwhelming majority (from 80% to 97%) of cleft constructions, even from the youngest children. On the other hand, when the matter of the disagreement concerned the patient, there were only a few cleft constructions, even with the oldest children; contrastive stress on the object constituent was the predominant device employed for marking information in that situation. The high proportion of clefts in the Agent condition, and the high proportion of stressed object constituents in the Patient condition, both differ from previously reported data. These differences are discussed with reference to differences in task requirements and to differences between the prosodic constraints of French and English. PMID:2760126

  17. Identification of a novel heterozygous truncation mutation in exon 1 of ARHGAP29 in an Indian subject with nonsyndromic cleft lip with cleft palate

    PubMed Central

    Chandrasekharan, Deepak; Ramanathan, Arvind

    2014-01-01

    Objective: Mutations in exon 1 of ARHGAP29, a RhoA specific GTPase have been identified in North American and Filipino subjects with nonsyndromic cleft palate and cleft lip with or without cleft palate. Since the genetic status of ARHGAP29 in Indian subjects with nonsyndromic oral clefts is not known, we designed the present study to investigate the occurrence of the above mutations in them. Materials and Methods: Total genomic DNA extracted from peripheral blood of 60 subjects with nonsyndromic cleft palate and cleft lip with or without cleft palate, and equal number of control healthy subjects were amplified with primers flanking exon 1 of ARHGAP29 gene and subjected to direct sequencing. Results: Sequencing analysis identified a nonsense mutation in exon 1 of ARHGAP29 that caused substitution of lysine to stop codon at codon position 32 in a subject with nonsyndromic cleft lip with cleft palate. The mutation, however, occurred in heterozygous condition. None of the other subjects carried mutation in this region. Conclusion: The study has thus identified a rare but novel truncation mutation in ARHGAP29 gene for the first time in nonsyndromic oral clefts. PMID:25512736

  18. Global variation in cleft palate repairs: an analysis of 352,191 primary cleft repairs in low- to higher-middle-income countries.

    PubMed

    Cubitt, Jonathan J; Hodges, Andrew M; Van Lierde, Kristiane M; Swan, Marc C

    2014-09-01

    Objectives : Resources for repair of cleft lip and palate may be lacking in low- and middle-income countries. The Smile Train is a registered charity that supports cleft repair in resource-poor settings. In the global health care challenge, it has been suggested that many babies born with cleft palates are not repaired. This study aims to determine whether any variation exists in the proportion of cleft lip and cleft palate repairs undertaken in low- and middle-income countries. Methods : Data were obtained from the Smile Train database of 352,191 consecutive cleft operations performed between 2008 and 2011 in low- to higher-middle-income countries. The ratio of cleft lip to palate repair was analyzed as a function of geographic region and by country income (gross national income). Results : A significant correlation exists between both the income of a country and its geographical region to the ratio of lip and palate repair procedures undertaken. Higher-income countries had a higher ratio of cleft palate repairs. Countries in sub-Saharan Africa have the lowest proportion of cleft palate repairs. Conclusion : This study emphasizes that many babies born with cleft palates in resource-poor regions do not have their palates repaired. This finding may be explained by an increased neonatal mortality in cleft palate babies. Furthermore, fewer isolated palatal clefts may present to an appropriate health care facility or there may be a reluctance to treat cleft palate due to concerns regarding higher perioperative risks or the lack of available surgical and anesthetic expertise. PMID:24102511

  19. Early Predictors of Attachment in Infants with Cleft Lip and/or Palate.

    ERIC Educational Resources Information Center

    Speltz, Matthew L.; And Others

    1997-01-01

    Examined attachment classification of children with cleft lip and palate (CLP) and isolated cleft palate (ICP) and comparison group at 12 months of age; found no significant differences. Findings suggest that infants with clefts, despite special needs and caregiving requirements, seem not to have elevated risk for insecure attachments at the end…

  20. Common Dental Anomalies in Cleft Lip and Palate Patients

    PubMed Central

    HAQUE, Sanjida; ALAM, Mohammad Khursheed

    2015-01-01

    Background: Cleft lip and palate (CLP) is the most common orofacial congenital malformation in live births. CLP can occur individually or in combination with other congenital deformities. Affected patients experience a number of dental, aesthetic, speech, hearing, and psychological complications and have a higher incidence of severe dental conditions. The purpose of this study is to characterise the different types of dental anomalies that are frequently associated with CLP patients based on a literature survey. Methods: By literature survey, this study characterises the different types of dental anomalies that are frequently associated with cleft lip and palate patients. Results: Common dental anomalies associated with CLP are supernumerary tooth, congenitally missing tooth, delayed tooth development, morphological anomalies in both deciduous and permanent dentition, delayed eruption of permanent maxillary incisors, microdontia, and abnormal tooth number. Conclusion: The incidence of certain dental anomalies is strongly correlated with Cleft lip and palate, a finding that is consistent with previous studies. PMID:26023296

  1. Cleft Rhinoplasty- Columellar lengthening prolabial reconstruction with Abbe flap

    PubMed Central

    Balaji, S. M.

    2016-01-01

    Introduction: A single center's experience of correction of cleft lip/palate associated rhinoplasty using Abbe flap is relatively rare in literature. The outcome and perception of the Abbe flap for cleft rhinoplasty at patient, surgeons, and patient's caregiver level have not been found in literature. This manuscript aims to address this lacuna through the use of rhinoplasty outcomes evaluation questionnaire (ROEQ). Materials and Methods: A retrospective analysis of preoperative satisfaction and prospective analysis of postoperative satisfaction of patients who underwent cleft rhinoplasty were carried out using ROEQ. This was used twice measuring the pre- and post-operative periods. Results: Twenty-one cases of bilateral cleft lip and palate who had earlier undergone (0.5–3 years back) cleft rhinoplasty and lip revision with Abbe's flap formed the study group. The mean age of the 21 subjects was 22.87 ± 4.23 years. There were 13 males and 8 females forming the study group. The mean presurgical ROEQ score was 19.8 ± 11.2, while the postsurgical score was 78.5 ± 21.2. This difference was statistically significant (P = 0.001). The difference in score between the time period was 58.7%. Discussion: From the ROEQ and other qualitative parameters, it is possible to demonstrate the impact of Abbe flap for cleft rhinoplasty and its impact on the quality of life of patients. Most of the patients and caregivers believed that this approach achieved a good or excellent postoperative result. The biological and operators factors behind such a success are discussed in light of previously published literature.

  2. Dislocated Tongue Muscle Attachment and Cleft Palate Formation.

    PubMed

    Kouskoura, T; El Fersioui, Y; Angelini, M; Graf, D; Katsaros, C; Chiquet, M

    2016-04-01

    In Pierre Robin sequence, a retracted tongue due to micrognathia is thought to physically obstruct palatal shelf elevation and thereby cause cleft palate. However, micrognathia is not always associated with palatal clefting. Here, by using the Bmp7-null mouse model presenting with cleft palate and severe micrognathia, we provide the first causative mechanism linking the two. In wild-type embryos, the genioglossus muscle, which mediates tongue protrusion, originates from the rostral process of Meckel's cartilage and later from the mandibular symphysis, with 2 tendons positive for Scleraxis messenger RNA. In E13.5 Bmp7-null embryos, a rostral process failed to form, and a mandibular symphysis was absent at E17.5. Consequently, the genioglossus muscle fibers were diverted toward the lingual surface of Meckel's cartilage and mandibles, where they attached in an aponeurosis that ectopically expressed Scleraxis. The deflection of genioglossus fibers from the anterior-posterior toward the medial-lateral axis alters their direction of contraction and necessarily compromises tongue protrusion. Since this muscle abnormality precedes palatal shelf elevation, it is likely to contribute to clefting. In contrast, embryos with a cranial mesenchyme-specific deletion of Bmp7 (Bmp7:Wnt1-Cre) exhibited some degree of micrognathia but no cleft palate. In these embryos, a rostral process was present, indicating that mesenchyme-derived Bmp7 is dispensable for its formation. Moreover, the genioglossus appeared normal in Bmp7:Wnt1-Cre embryos, further supporting a role of aberrant tongue muscle attachment in palatal clefting. We thus propose that in Pierre Robin sequence, palatal shelf elevation is not impaired simply by physical obstruction by the tongue but by a specific developmental defect that leads to functional changes in tongue movements. PMID:26701347

  3. Isolated cleft lip with generalized aggressive periodontitis: A rare entity

    PubMed Central

    Metgud, Renuka; Kumar, Ajay; Bhat, Kishore

    2015-01-01

    Oro-facial clefts are one of the most common birth defects and may be associated with other genetic anomalies. Aggressive periodontitis is a rare condition that progresses rapidly, but affects only a small percentage of the population. Most of the cases of aggressive periodontitis are familial. Even though, literature has documented the association of various genetic disorders with aggressive periodontitis, the aggressive periodontitis in patients with isolated cleft lip (CL) have never been addressed. Here, we report a rare case of isolated CL with generalized aggressive periodontitis. The concomitant presentation of isolated CL with aggressive periodontitis in an individual has clinical significance for multi-disciplinary care. PMID:25810600

  4. Surgical management of cleft lip in pedo-patients.

    PubMed

    Taware, C P; Kulkarni, S R

    1991-01-01

    The Present article describes in short etiology of cleft lip and cleft palate. With this in-born defect, patient develops crucial problems with feeding, phonation, overall growth and development of affected and allied soft and hard tissue structures. This in turn results in deformity and asymmetry which is going to affect functional requirements as well as aesthetic outlook. Hence it really becomes mandatory to correct this defect surgically as early as possible, at stipulated timings so as to avoid present and future anticipated problems. PMID:1820390

  5. First Branchial Cleft Malformation with Duplication of External Auditory Canal

    PubMed Central

    Parida, Pradipta Kumar; Raja, Kalairasi; Surianarayanan, Gopalakrishnan; Ganeshan, Sivaraman

    2013-01-01

    First branchial cleft anomalies are uncommon, accounting for less than 10% of all branchial abnormalities. Their rare occurrence and varied presentation have frequently led to misdiagnosis and inadequate and inappropriate treatment of these conditions leading to repeated recurrences and secondary infection. In this paper, a case of 11-year girl with type 2 first branchial cleft defect is described. She first presented with a nonhealing ulcer of upper neck from childhood. Diagnosis had previously been missed and treated as tubercular ulcer. We confirmed the correct diagnosis by history and computerized tomography fistulogram. The lesion was completely excised with no further recurrence. PMID:24312740

  6. Simplified feeding appliance for an infant with cleft palate.

    PubMed

    Masih, Shaila; Chacko, Reena Annie; Thomas, Abi M; Singh, Namita; Thomas, Rodny; Abraham, Deena

    2014-01-01

    A child born with cleft palate may experience difficulties while feeding. Early surgical treatment may need to be postponed until certain age and weight gain of the infant. The case presented here is of a 1-month-old neonate born with cleft palate, assisted with a new feeding appliance made with ethylene vinyl acetate using pressure molding technique to aid in proper feeding. The patient's weight and health significantly improved after the insertion of obturator. The advantages of this material included being lightweight, moldability, good palatal fit and decreased soft tissue injury. PMID:25231044

  7. Rhinoplasty for the Cleft Lip and Palate Patient.

    PubMed

    Cuzalina, Angelo; Jung, Calvin

    2016-05-01

    Septorhinoplasties in cleft patients are challenging procedures to perform for even the most experienced surgeon. Unilateral cleft rhinoplasties present a unique challenge given that the tissue bed has had previous manipulation and scarring is found around the tissue matrix, making it typically necessary to place several sturdy cartilaginous grafts to provide structural support. Rib graft provides an abundance of cartilage that can be used for multiple areas. The ability to manipulate and adjust the thickness of the cartilage strut allows for improved integrity of the graft to resist deformation and warping from the formant scar tissue. PMID:26960915

  8. Isolated cleft lip with generalized aggressive periodontitis: A rare entity.

    PubMed

    Metgud, Renuka; Kumar, Ajay; Bhat, Kishore

    2015-01-01

    Oro-facial clefts are one of the most common birth defects and may be associated with other genetic anomalies. Aggressive periodontitis is a rare condition that progresses rapidly, but affects only a small percentage of the population. Most of the cases of aggressive periodontitis are familial. Even though, literature has documented the association of various genetic disorders with aggressive periodontitis, the aggressive periodontitis in patients with isolated cleft lip (CL) have never been addressed. Here, we report a rare case of isolated CL with generalized aggressive periodontitis. The concomitant presentation of isolated CL with aggressive periodontitis in an individual has clinical significance for multi-disciplinary care. PMID:25810600

  9. Cell-based multi-parametric model of cleft progression during submandibular salivary gland branching morphogenesis.

    PubMed

    Ray, Shayoni; Yuan, Daniel; Dhulekar, Nimit; Oztan, Basak; Yener, Bülent; Larsen, Melinda

    2013-01-01

    Cleft formation during submandibular salivary gland branching morphogenesis is the critical step initiating the growth and development of the complex adult organ. Previous experimental studies indicated requirements for several epithelial cellular processes, such as proliferation, migration, cell-cell adhesion, cell-extracellular matrix (matrix) adhesion, and cellular contraction in cleft formation; however, the relative contribution of each of these processes is not fully understood since it is not possible to experimentally manipulate each factor independently. We present here a comprehensive analysis of several cellular parameters regulating cleft progression during branching morphogenesis in the epithelial tissue of an early embryonic salivary gland at a local scale using an on lattice Monte-Carlo simulation model, the Glazier-Graner-Hogeweg model. We utilized measurements from time-lapse images of mouse submandibular gland organ explants to construct a temporally and spatially relevant cell-based 2D model. Our model simulates the effect of cellular proliferation, actomyosin contractility, cell-cell and cell-matrix adhesions on cleft progression, and it was used to test specific hypotheses regarding the function of these parameters in branching morphogenesis. We use innovative features capturing several aspects of cleft morphology and quantitatively analyze clefts formed during functional modification of the cellular parameters. Our simulations predict that a low epithelial mitosis rate and moderate level of actomyosin contractility in the cleft cells promote cleft progression. Raising or lowering levels of contractility and mitosis rate resulted in non-progressive clefts. We also show that lowered cell-cell adhesion in the cleft region and increased cleft cell-matrix adhesions are required for cleft progression. Using a classifier-based analysis, the relative importance of these four contributing cellular factors for effective cleft progression was determined

  10. GFA Taq I polymorphism and cleft lip with or without cleft palate (CL/P) risk

    PubMed Central

    Dong, Lijia; Ma, Lian

    2015-01-01

    The transforming growth factor alpha (TGFA) Taq I polymorphism has been indicated to be correlated with cleft lip with or without cleft palate (CL/P) susceptibility, but study results are still debatable. Thus, a meta-analysis was conducted. We conducted a comprehensive search of Embase, Ovid, Web of Science, the Cochrane database, PubMed, the Chinese Biomedical Literature Database (CBM-disc, 1979-2014), the database of National Knowledge Infrastructure (CNKI, 1979-2014) and the full paper database of Chinese Science and Technology of Chongqing (VIP, 1989-2014) to identify suitable studies. There were 18 studies suitable for this meta-analysis, involving a total of 3135 cases and 3575 controls. Significantly increased CL/P risk was observed (OR = 1.49; 95% CI 1.17-1.89; P = 0.001). In subgroup analyses stratified by ethnicity, there was evidence in the Caucasian population for an association between this polymorphism and CL/P risk (OR = 1.52; 95% CI 1.14-2.02; P = 0.004). However, no significant association was found between this his polymorphism and CL/P risk in African and Hispanic populations. According to a specific CL/P type, increased clip lip and palate risk and clip palate risk were found (OR = 1.38; 95% CI 1.10-1.73; P = 0.005; OR = 1.29; 95% CI 1.01-1.66; P = 0.042). In conclusion, the present meta-analysis found that the TGFA Taq I polymorphism may be associated with CL/P susceptibility. PMID:26064247

  11. Investigations on the palatal rugae pattern in cleft patients. Part I: A morphological analysis.

    PubMed

    Kratzsch, H; Opitz, C

    2000-01-01

    The characteristics of the palatal rugae zone (number of rugae, relief type, posterior limitation) were investigated on the maxillary casts of 44 patients with unilateral cleft lip and palate and 28 patients with bilateral clefts by means of reflex microscopy, a three-dimensional, computer-assisted, touch-free measuring system for the metrical registration and analysis of the parameters directly on the maxillary casts for the segments of the 2 cleft groups. The features "number of palatal rugae" and "relief type" (primary rugae) were determined both before and after surgical repair of the cleft palate. Both segments in unilateral cleft lip and palate and both lateral segments in bilateral clefts most commonly had 4 to 5 palatal rugae. The number of rugae in cleft patients is thus in a range that other authors have reported for non-cleft individuals. Following palatal cleft repair, the rugae counts per segment decreased significantly in patients with unilateral and bilateral cleft lip and palate but the 3rd rugae was never lost after surgery. The relief type identified in unilateral and bilateral cleft lip and palate was the same as in isolated cleft palates and did not differ from that in non-cleft subjects. The posterior limitation of the palatal rugae zone was determined both in a tooth-defined manner and as an absolute linear distance (at all time points). The most frequent tooth-defined posterior limitation of the rugae zone in unilateral and bilateral clefts was the second deciduous molar, which is also the position identified for non-cleft individuals. The linear distance from the tuberosity line to the rugae zone increased in all segments of unilateral and bilateral clefts during the interval up to palatal cleft repair, indicating sagittal maxillary development in the posterior area of the palate. Surgical repair of the cleft palate resulted in a significant shortening of the distance in both segments of the unilateral cleft, most likely due to the

  12. Initial ion composition results from the Isis 2 satellite

    NASA Technical Reports Server (NTRS)

    Hoffman, J. H.; Dodson, W. H.; Lippincott, C. R.; Hammack, H. D.

    1974-01-01

    Isis 2 satellite carried, among other ionospheric instruments an ion mass spectrometer designed to measure the composition of the ionosphere in the mass range from 1 to 64 amu. The satellite, in a nearly constant 1400-km orbit, was launched on April 1, 1971. Examples of data show a wide variation in ion composition from 99% H(+) at night near the equator to greater than 95% O(+) and N(+) in the daytime poleward of the plasmapause. Both H(+) and He(+) are observed to be streaming outward from the high-latitude regions with velocities of several kilometers per second (the polar wind), determined from phase shifts in roll modulation maximums between light and heavy ion species. During the August 1972 magnetic storm a unique ionosphere developed, consisting of N(+) as the dominant species between 55 and 80 deg invariant latitude (above the plasmapause) and N2(+), NO(+), and O2(+) at the 1000 per cu cm concentration level, whereas these molecular species are usually below the detection limit of 1 ion per cu cm in quiet times at this altitude.

  13. Cleft Lip and Palate Associated with Other Malformations in a Neotropical Primate (Saimiri ustus)

    PubMed Central

    Goldschmidt, Beatriz; Lopes, Claudia AA; Moura, Marina; Nogueira, Denise M; Gonçalves, Miguel AB; Fasano, Daniele M; Andrade, Marcia CR; Nascimento, Laine WF; Marinho, Antonio M

    2010-01-01

    Cleft lip (with or without cleft palate) has been documented in several species of nonhuman primates, which in general are susceptible at similar doses and stages of gestation to the same teratogens as humans. Cleft lip can be unilateral or bilateral, isolated, syndromic, familial, or genetic. Here we report the first case of syndromic cleft lip and palate in a male bare-eared squirrel monkey (Saimiri ustus). Associated with the orofacial clefts, the monkey manifested absence of bones, malformation of vertebrae L3, only 4 fingers in each hand, and shortening of tendons leading to inflection of the hands and fingers. Previous reports describing cleft lip and palate in other squirrel monkeys (Saimiri sciureus) in other breeding units have suggested consanguineous mating as a possible cause. Although the etiology in the case we present is unknown, we discuss factors associated with orofacial clefts in humans and various nonhuman primates. PMID:20587169

  14. Occlusal Disorders among Patients with Total Clefts of Lip, Alveolar Bone, and Palate

    PubMed Central

    Paradowska-Stolarz, Anna

    2014-01-01

    Clefts are common birth defects. They are accompanied by various malformations, including disturbances in facial look as well as skeletal disorders that include malocclusions, most frequently crossbites and class III anomalies. The aim of the study was to present the commonest malocclusions in patients with total cleft of the lip, alveolar bone and palate (n = 154) and compare the results to the healthy on-cleft patients (n = 151). Normal occlusion, characteristic for I angle class, was observed in 50% of the control group and 30% of the examined. In the examined patients with clefts, most frequently crossbite and open bite on the cleft side was observed. In patients with clefts, only 2 out of 154 patients presented isolated dental anomalies. In healthy individuals the commonest occlusal disorder was distal occlusion and dental anomalies. The commonest malocclusions among patients with clefts are crossbites and class III malocclusions. PMID:24982898

  15. Cleft Palate induced by Sulfur Mustard in mice fetus

    PubMed Central

    Hassanzadeh-Nazarabadi, Mohammad; Sanjarmoosavi, Nasrin; Sanjarmoosavi, Naser; Shekouhi, Sahar

    2012-01-01

    Sulfur Mustard (SM) is a chemical warfare agent which was widely used in the World War I and more recently during Gulf war in the early 1980s'. SM is a strong alkylating agent with known mutagenic and carcinogenic effects; but only few studies have been published on its teratogenicity. Since SM has been widely used as a chemical weapon by the Iraqi regime against the Iranian soldiers as well as the civilian population particularly pregnant women in the border area; therefore, the investigation of SM adverse effects on cleft malformations which is one of the most frequent congenital anomalies is considered in this study. An experimental work has been carried out in embryopathy in mouse with intraperitoneal injection of 0.75 and 1.5 mg/kg SM at different periods of gestation. Cleft lip and palate were examined by stereomicroscopy. Current data demonstrate that exposure with SM on the 11th day of gestation can increase the incidence of cleft defects in comparison with control group (P<0.001). These results also show that SM treatment in GD 11 and 13 can lead to more anomalies compared with GD 14 (P<0.001). They also show that the teratogenic effects of SM are restrictively under the influence of the threshold dose and time of gestation. The present results suggest that exposure to sufficient doses of SM on critical days of gestation may increase the risk of congenital cleft malformations. PMID:24551757

  16. Micronutrients and oral clefts: a case-control study.

    PubMed

    McKinney, C M; Chowchuen, B; Pitiphat, W; Derouen, T; Pisek, A; Godfrey, K

    2013-12-01

    Little is known about oral clefts in developing countries. We aimed to identify micronutrient-related and environmental risk factors for oral clefts in Thailand. We tested hypotheses that maternal exposure during the periconceptional period to multivitamins or liver consumption would decrease cleft lip with or without cleft palate (CL ± P) risk and that menstrual regulation supplements would increase CL ± P risk. We conducted a multisite hospital-based case-control study in Thailand. We enrolled cases with CL ± P and 2 live births as controls at birth from the same hospital. Mothers completed a questionnaire. Conditional logistic regression was used to estimate odds ratios (ORs) and 95% confidence intervals (CIs). Eighty-six cases and 172 controls were enrolled. Mothers who took a vitamin (adjusted OR, 0.39; 95% CI: 0.16, 0.94) or ate liver (adjusted OR, 0.26; 95% CI: 0.12, 0.57) were less likely than those who did not to have an affected child. Mothers who took a menstrual regulation supplement were more likely than mothers who did not to have an affected child. Findings did not differ for infants with a family history of other anomalies or with isolated CL ± P. If replicated, our finding that liver decreases CL ± P risk could offer a low-cost primary prevention strategy. PMID:24097855

  17. Topographic Mapping of the Synaptic Cleft into Adhesive Nanodomains.

    PubMed

    Perez de Arce, Karen; Schrod, Nikolas; Metzbower, Sarah W R; Allgeyer, Edward; Kong, Geoffrey K-W; Tang, Ai-Hui; Krupp, Alexander J; Stein, Valentin; Liu, Xinran; Bewersdorf, Jörg; Blanpied, Thomas A; Lucić, Vladan; Biederer, Thomas

    2015-12-16

    The cleft is an integral part of synapses, yet its macromolecular organization remains unclear. We show here that the cleft of excitatory synapses exhibits a distinct density profile as measured by cryoelectron tomography (cryo-ET). Aiming for molecular insights, we analyzed the synapse-organizing proteins Synaptic Cell Adhesion Molecule 1 (SynCAM 1) and EphB2. Cryo-ET of SynCAM 1 knockout and overexpressor synapses showed that this immunoglobulin protein shapes the cleft's edge. SynCAM 1 delineates the postsynaptic perimeter as determined by immunoelectron microscopy and super-resolution imaging. In contrast, the EphB2 receptor tyrosine kinase is enriched deeper within the postsynaptic area. Unexpectedly, SynCAM 1 can form ensembles proximal to postsynaptic densities, and synapses containing these ensembles were larger. Postsynaptic SynCAM 1 surface puncta were not static but became enlarged after a long-term depression paradigm. These results support that the synaptic cleft is organized on a nanoscale into sub-compartments marked by distinct trans-synaptic complexes. PMID:26687224

  18. Acceptance of Disability by Teenagers with Oral-Facial Clefts

    ERIC Educational Resources Information Center

    Starr, Philip; Heiserman, Kitty

    1977-01-01

    This study ascertains whether the findings of Linkowski and Dunn (1974) were applicable to a sample of teenagers with oral-facial clefts. The following brief description of the nature of this birth defect and the treatment involved will help to explain why these patients are potential candidates for rehabilitation. (Author)

  19. The Cleft Care UK study. Part 4: perceptual speech outcomes

    PubMed Central

    Sell, D; Mildinhall, S; Albery, L; Wills, A K; Sandy, J R; Ness, A R

    2015-01-01

    Structured Abstract Objectives To describe the perceptual speech outcomes from the Cleft Care UK (CCUK) study and compare them to the 1998 Clinical Standards Advisory Group (CSAG) audit. Setting and sample population A cross-sectional study of 248 children born with complete unilateral cleft lip and palate, between 1 April 2005 and 31 March 2007 who underwent speech assessment. Materials and methods Centre-based specialist speech and language therapists (SLT) took speech audio–video recordings according to nationally agreed guidelines. Two independent listeners undertook the perceptual analysis using the CAPS-A Audit tool. Intra- and inter-rater reliability were tested. Results For each speech parameter of intelligibility/distinctiveness, hypernasality, palatal/palatalization, backed to velar/uvular, glottal, weak and nasalized consonants, and nasal realizations, there was strong evidence that speech outcomes were better in the CCUK children compared to CSAG children. The parameters which did not show improvement were nasal emission, nasal turbulence, hyponasality and lateral/lateralization. Conclusion These results suggest that centralization of cleft care into high volume centres has resulted in improvements in UK speech outcomes in five-year-olds with unilateral cleft lip and palate. This may be associated with the development of a specialized workforce. Nevertheless, there still remains a group of children with significant difficulties at school entry. PMID:26567854

  20. INFLUENCE OF ISOLATED CLEFT PALATE AND PALATOPLASTY ON THE FACE

    PubMed Central

    da Silva, Omar Gabriel; Rosa, Larissa Alves de Albuquerque; Lauris, Rita de Cássia M. Carvalho

    2007-01-01

    Introduction The literature has demonstrated that alterations in craniofacial morphology characterizing individuals with cleft palate are observed in both operated and unoperated patients. Objective This study evaluated the influence of isolated cleft palate and palatoplasty on the face, based on facial analysis. Material and methods Lateral facial photographs of the right side of 85 young adult patients with cleft palate were analyzed, of whom 50 were operated on and 35 had never received any previous surgical treatment. The nasolabial angle and zygomatic projection were used to define the maxillary position in the face. Mandibular positioning was classified as Pattern I, II and III. Results Patients were distributed into 54.12% as Pattern I, 32.94% Pattern II and 12.94% Pattern III. Distribution of facial patterns did not show statistically significant differences between groups (p>0.05). Although palatoplasty did not influence the facial pattern, the zygomatic projection was vulnerable to plastic surgeries. Twenty-eight percent of the patients in the operated group showed zygomatic deficiency, compared to only 8.5% in the unoperated group. Conclusions In patients with isolated cleft palate, palatoplasty may influence negatively the sagittal behavior of the maxilla, according to the zygomatic projection of the face, though without compromising the facial pattern. PMID:19089130

  1. An Early Intervention Guide to Infants Born with Clefts.

    ERIC Educational Resources Information Center

    Savage, Hallie E.

    1997-01-01

    Discusses the goals of early intervention for infants born with a cleft or craniofacial anomaly, which include facilitating feeding, counseling the family regarding expectations for growth and development, and identifying the nature and extent of family resources required. Program features of effective intervention are described. (Author/CR)

  2. Management challenges arising from a traumatic 360 degree cyclodialysis cleft.

    PubMed

    Trikha, S; Turnbull, Amj; Agrawal, Ss; Amerasinghe, N; Kirwan, Jf

    2012-01-01

    We describe the case of a 28-year-old naval officer who attended the ophthalmology service following blunt ocular trauma to the left eye. Clinical examination revealed a shallow anterior chamber, hypotony, and a 360° cyclodialysis cleft. We discuss the management options in this case, with an overview of the current literature. PMID:22368444

  3. Management challenges arising from a traumatic 360 degree cyclodialysis cleft

    PubMed Central

    Trikha, S; Turnbull, AMJ; Agrawal, SS; Amerasinghe, N; Kirwan, JF

    2012-01-01

    We describe the case of a 28-year-old naval officer who attended the ophthalmology service following blunt ocular trauma to the left eye. Clinical examination revealed a shallow anterior chamber, hypotony, and a 360° cyclodialysis cleft. We discuss the management options in this case, with an overview of the current literature. PMID:22368444

  4. Quantitative assessment of healthy and reconstructed cleft lip using ultrasonography

    PubMed Central

    Devadiga, Sumana; Desai, Anil Kumar; Joshi, Shamsunder; Gopalakrishnan, K.

    2016-01-01

    Purpose: This study is conducted to investigate the feasibility of echographic imaging of tissue thickness of healthy and reconstructed cleft lip. Design: Prospective study. Materials and Methods: The study was conducted in SDM Craniofacial Unit, Dharwad and was approved by Local Institutional Review Board. A total of 30 patients, age group ranging from 4 to 25 years, of which 15 postoperative unilateral cleft lip constituted the test group. The remaining 15 with no cleft deformities, no gross facial asymmetry, constituted the control group. The thickness of the mucosa, submucosa, muscle and full thickness of the upper lip were measured with the transversal images using ultrasonography at midpoint of philtrum, right and left side philtral ridges and vermillion border, at 1, 3, 6 months interval. Results: There was an increase in muscle thickness at the vermillion border (mean = 6.9 mm) and philtral ridge (5.9 mm). Equal muscle thickness were found between the normal and test group at 6 months follow-up in a relaxed position, which was statistically significant (P = 0.0404). Conclusion: Quantitative assessment of thickness and echo levels of various lip tissues are done with proper echographic calibration. Diagnostic potentials of this method for noninvasive evaluation of cleft lip reconstructions were achieved by this study. PMID:27134448

  5. Speech Analyses of Four Children with Repaired Cleft Palates.

    ERIC Educational Resources Information Center

    Powers, Gene R.; And Others

    1990-01-01

    Spontaneous speech samples were collected from four three-year olds with surgically repaired cleft palates. Analyses showed that subjects were similar to one another with respect to their phonetic inventories but differed considerably in the frequency and types of phonological processes used. (Author/JDD)

  6. Prevention of Communication Problems Associated with Cleft Palate.

    ERIC Educational Resources Information Center

    Pannbacker, Mary

    1988-01-01

    The paper reviews principles of preventative intervention and their application to communication problems associated with cleft palate. Ten specific suggestions (such as continuing professional education, identification of adenoidal atrophy, and prompt referral for secondary management) and activities are described. (Author/DB)

  7. Phonological Patterns Observed in Young Children with Cleft Palate.

    ERIC Educational Resources Information Center

    Broen, Patricia A.; And Others

    The study examined the speech production strategies used by 4 young children (30- to 32-months-old) with cleft palate and velopharyngeal inadequacy during the early stages of phonological learning. All the children had had primary palatal surgery and were producing primarily single word utterances with a few 2- and 3-word phrases. Analysis of each…

  8. Observations on Hearing Levels of Preschool Cleft-Palate Children

    ERIC Educational Resources Information Center

    Harrison, Robert J.; Philips, Betty Jane

    1971-01-01

    Pure-tone audiometry performed monthly on nine preschool cleft palate children showed the incidence of hearing loss ranging from 25 to 71 percent from month to month, with all children experiencing a significant hearing loss at some time. (Author/KW)

  9. Helping the Child with a Cleft Palate in Your Classroom.

    ERIC Educational Resources Information Center

    Moran, Michael J.; Pentz, Arthur L.

    1995-01-01

    Guidelines for teachers of a student with a cleft palate include understand the physical problem; know what kind of speech problem to expect; be alert to the possibility of language-based learning difficulties; watch for signs of hearing loss; be alert to socialization problems; help the student make up work; and avoid self-fulfilling prophecies.…

  10. Study of oral clefts: Indication of gene-environment interaction

    SciTech Connect

    Hwang, S.J.; Beaty, T.H.; Panny, S.

    1994-09-01

    In this study of infants with isolated birth defects, 69 cleft palate-only (CPO) cases, 114 cleft lip with or without palate (CL/P), and 284 controls with non-cleft birth defects (all born in Maryland during 1984-1992) were examined to test for associations among genetic markers and different oral clefts. Modest associations were found between transforming growth factor {alpha} (TGF{alpha}) marker and CPO, as well as that between D17S579 (Mfd188) and CL/P in this study. The association between TGF{alpha} marker and CPO reflects a statistical interaction between mother`s smoking and child`s TGF{alpha} genotype. A significantly higher risk of CPO was found among those reporting maternal smoking during pregnancy and carrying less common TGF{alpha} TaqI allele (odds ratio=7.02 with 95% confidence interval 1.8-27.6). This gene-environment interaction was also found among those who reported no family history of any type of birth defect (odds ratio=5.60 with 95% confidence interval 1.4-22.9). Similar associations were seen for CL/P, but these were not statistically significant.

  11. A Study of Cleft Palate Speakers with Marginal Velopharyngeal Competence.

    ERIC Educational Resources Information Center

    Hardin, M. A.; And Others

    1986-01-01

    The study examined a previously hypothesized model for a subgroup of cleft palate speakers with marginal velopharyngeal competence during speech. Evaluation of 52 5- and 6-year-olds with appropriate lateral X-ray results indicated that most met fewer than three of the other five criteria required by the model. (Author/DB)

  12. Cleft Palate Repair Using a Double Opposing Z-Plasty.

    PubMed

    Moores, Craig; Shah, Ajul; Steinbacher, Derek M

    2016-07-01

    Cleft palate is a common congenital defect with several described surgical repairs. The most successful treatment modality remains a controversy. The goals of repair focus on achievement of normal speech and optimizing velopharyngeal function while minimizing both fistula formation and facial growth restriction. In this video, the authors demonstrate use of the double opposing Z-plasty technique in the repair of a Veau II type cleft palate. The video demonstrates the marking, incisions, dissection, and repair of the cleft. It also examines the use of von Langenbeck-type relaxing incisions and demonstrates a specific approach to the repair of this particular cleft. The authors believe that the Furlow double opposing Z-plasty with the von Langenbeck relaxing incision can provide the best postoperative outcome by combining the benefits of each individual operation. The Z-plasty technique works to correct the aberrant muscle of the soft palate while increasing the length of the palate. The authors believe that this results in better velopharyngeal function. PMID:27315321

  13. Reorganization of craniofacial/cleft care delivery: the Massachusetts experience.

    PubMed

    Borah, G L; Hagberg, N; Jakubiak, C; Temple, J

    1993-05-01

    Until 1989, the Commonwealth of Massachusetts operated a mandated care program known as Services for Handicapped Children (SHC) for children with cleft lip/palate or craniofacial anomalies. During the mid 1980s, the federal government reduced its block grant funds and encouraged the Commonwealth of Massachusetts to develop Project SERVE to address this changing fiscal reality. The principal outcome of Project SERVE was the recommendation that the SHC direct care programs, including all craniofacial and cleft palate clinics, should be dismantled over a number of years. However, due to the economic recession, all government funding was suddenly withdrawn from cleft palate teams and the state-run SHC clinics were abruptly dissolved. To treat patients left without coordinated care, former team members reassembled and began a new craniofacial team based at the University of Massachusetts Medical Center. Difficulties with the transition of the clinic included recruiting and retaining team members; remuneration procedures for team members; maintenance of patient records previously kept by the state; coordination of clinical/clerical responsibilities; identifying a physical locale to hold the clinics; and solicitation of referring health care provider referrals and follow-up. All these issues required specific interventions that are presented in this paper. Project SERVE, begun under federal auspices, in the Commonwealth of Massachusetts, has recently been promoted as a model for a new and improved approach to the management of cleft palate and craniofacial care delivery nationwide. Awareness of the potential for abrupt, radical change in funding for federally mandated cleft/craniofacial care is essential, and a successful transition to a medical center-based model is possible using the procedures established at our center. PMID:8338866

  14. Whorl Patterns on the Lower Lip are Associated with Nonsyndromic Cleft Lip with or without Cleft Palate

    PubMed Central

    Neiswanger, Katherine; Chirigos, Kevin W.; Klotz, Cherise M.; Cooper, Margaret E.; Bardi, Kathleen M.; Brandon, Carla A.; Weinberg, Seth M.; Vieira, Alexandre R.; Martin, Rick A.; Czeizel, Andrew E.; Castilla, Eduardo E.; Poletta, Fernando A.; Marazita, Mary L.

    2009-01-01

    Nonsyndromic cleft lip with or without cleft palate (CL/P) is a common birth defect due to both genetic and environmental factors. Whorl lip print patterns are circular grooves on the central upper lip and/or the left and right lower lip. To determine if whorls are more common in families with CL/P than in controls, the Pittsburgh Orofacial Cleft Study collected lip prints from over 450 subjects, i.e., individuals with CL/P, their relatives, and unrelated controls—from the U.S., Argentina, and Hungary. Using a narrow definition of lower-lip whorl, the frequency of whorls in the U.S sample was significantly elevated in cleft individuals and their family members, compared to unrelated controls (14.8% and 13.2% versus 2.3%; P = 0.003 and 0.001, respectively). Whorls were more frequent in CL/P families from Argentina than in CL/P families from the U.S. or Hungary. If these results are confirmed, whorl lip print patterns could be part of an expanded phenotypic spectrum of nonsyndromic CL/P. As such, they may eventually be useful in a clinical setting, allowing recurrence risk calculations to incorporate individual phenotypic information in addition to family history data. PMID:19921634

  15. Replication of 13q31.1 Association in Nonsyndromic Cleft Lip with Cleft Palate in Europeans

    PubMed Central

    Cooper, Margaret E.; Butali, Azeez; Standley, Jennifer; Rigdon, Jennifer; Suzuki1, Satoshi; Gongorjav, Ayana; Shonkhuuz, T. Enkhtur; Natsume, Nagato; Shi, Bing; Marazita, Mary L.; Murray, Jeffrey C.

    2015-01-01

    Genome wide association (GWA) studies have successfully identified at least a dozen loci associated with orofacial clefts. However, these signals may be unique to specific populations and require replication to validate and extend findings as a prelude to etiologic SNP discovery. We attempted to replicate the findings of a recent meta-analysis of orofacial cleft GWA studies using four different ancestral populations. We studied 946 pedigrees (3436 persons) of European (US white and Danish) and Asian (Japanese and Mongolian) origin. We genotyped six SNPs which represented the most significant P value associations identified in published studies: rs742071 (1p36), rs7590268 (2p21), rs7632427 (3p11.1), rs12543318 (8q21.3), rs8001641 (13q31.1) and rs7179658 (15q22.2). We directly sequenced three non-coding conserved regions 200kb downstream of SPRY2 in 713 cases, 438 controls, and 485 trios from the US, Mongolia, and the Philippines. We found rs8001641 to be significantly associated with cleft lip with cleft palate (NSCLP) in Europeans (p-value=4 × 10−5, ORtransmission=1.86 with 95% confidence interval: 1.38-2.52). We also found several novel sequence variants in the conserved regions in Asian and European samples, which may help to localize common variants contributing directly to the risk for NSCLP. This study confirms the prior association between rs8001641 and NSCLP in European populations. PMID:25786657

  16. Identification of susceptibility genes in non-syndromic cleft lip with or without cleft palate using whole-exome sequencing

    PubMed Central

    Liu, Ya-Peng; Xu, Li-Fang; Wang, Qi; Zhou, Xiao-Long; Zhou, Ji-Long; Pan, Chen; Zhang, Jin-Peng; Wu, Qin-Rong; Li, Yi-Qun; Xia, Yu-Juan; Peng, Xiu; Zhang, Mei-Rong; Yu, Hong-Min

    2015-01-01

    Background Non-syndromic cleft lip with or without cleft palate (NSCL/P) is among the most common congenital malformations. The etiology of NSCL/P remains poorly characterized owing to its complex genetic heterogeneity. The objective of this study was to identify genetic variants that increase susceptibility to NSCL/P. Material and Methods Whole-exome sequencing (WES) was performed in 8 fetuses with NSCL/P in China. Bioinformatics analysis was performed using commercially available software. Variants detected by WES were validated by Sanger sequencing. Results By filtering out synonymous variants in exons, we identified average 8575 nonsynonymous single nucleotide variants (SNVs). We subsequently compared the SNVs against public databases including NCBI dbSNP build 135 and 1000 Genomes Project and obtained an average of 203 SNVs. Total 12 reported candidate genes were verified by Sanger sequencing. Sanger sequencing also confirmed 16 novel SNVs shared by two or more samples. Conclusions We have found and confirmed 16 susceptibility genes responsible for NSCL/P, which may play important role in the etiology of NSCL/P. The susceptibility genes identified in this study will not only be useful in revealing the etiology of NSCL/P but also in diagnosis and treatment of the patients with NSCL/P. Key words:Non-syndromic cleft lip with or without cleft palate, whole-exome sequencing, sanger sequencing, susceptibility gene, single nucleotide variants (SNVs). PMID:26449438

  17. The Effect of Cleft Palate Repair on Contractile Properties of Single Permeabilized Muscle Fibers From Congenitally Cleft Goats Palates

    Technology Transfer Automated Retrieval System (TEKTRAN)

    A cleft palate goat model was used to study the contractile properties of the levator veli palatini (LVP) muscle which is responsible for the movement of the soft palate. In 15-25% of patients that undergo palatoplasty, residual velopharyngeal insufficiency (VPI) remains a problem and often require...

  18. Cone-Beam Computed Tomography Assessment of Lower Facial Asymmetry in Unilateral Cleft Lip and Palate and Non-Cleft Patients with Class III Skeletal Relationship

    PubMed Central

    Lin, Yifan; Chen, Gui; Fu, Zhen; Ma, Lian; Li, Weiran

    2015-01-01

    Introduction To evaluate, using cone-beam computed tomography (CBCT), both the condylar-fossa relationships and the mandibular and condylar asymmetries between unilateral cleft lip and palate (UCLP) patients and non-cleft patients with class III skeletal relationship, and to investigate the factors of asymmetry contributing to chin deviation. Methods The UCLP and non-cleft groups consisted of 30 and 40 subjects, respectively, in mixed dentition with class III skeletal relationships. Condylar-fossa relationships and the dimensional and positional asymmetries of the condyles and mandibles were examined using CBCT. Intra-group differences were compared between two sides in both groups using a paired t-test. Furthermore, correlations between each measurement and chin deviation were assessed. Results It was observed that 90% of UCLP and 67.5% of non-cleft subjects had both condyles centered, and no significant asymmetry was found. The axial angle and the condylar center distances to the midsagittal plane were significantly greater on the cleft side than on the non-cleft side (P=0.001 and P=0.028, respectively) and were positively correlated with chin deviation in the UCLP group. Except for a larger gonial angle on the cleft side, the two groups presented with consistent asymmetries showing shorter mandibular bodies and total mandibular lengths on the cleft (deviated) side. The average chin deviation was 1.63 mm to the cleft side, and the average absolute chin deviation was significantly greater in the UCLP group than in the non-cleft group (P=0.037). Conclusion Compared with non-cleft subjects with similar class III skeletal relationships, the subjects with UCLP showed more severe lower facial asymmetry. The subjects with UCLP presented with more asymmetrical positions and rotations of the condyles on axial slices, which were positively correlated with chin deviation. PMID:26237311

  19. The functional EGF+61 polymorphism and nonsyndromic oral clefts susceptibility in a Brazilian population.

    PubMed

    Falagan-Lotsch, Priscila; Lopes, Talíria Silva; Küchler, Erika Calvano; Tannure, Patrícia Nivoloni; Costa, Marcelo de Castro; Amorim, Lidia Maria da Fonte de; Granjeiro, José Mauro

    2015-01-01

    Nonsyndromic oral clefts are considered a problem of public health in Brazil, presenting a multifactorial etiology that involves genetic and environmental components, such as maternal alcohol consumption. Several candidate genes have been investigated to identify some association with nonsyndromic clefts risk. The epidermal growth factor (EGF) gene is implicated in the normal craniofacial development and its functional +61 A>G polymorphism has been related to cancer susceptibility. It has been suggested that cancer and oral clefts may share the same molecular pathways.Objective Our goal was to evaluate the association between the EGF+61 A>G polymorphism and nonsyndromic oral clefts susceptibility.Material and Methods The case-control study included 218 cleft cases and 253 controls from Brazil. The control group was comprised of individuals without congenital malformations, dental anomalies and family history of clefts. The cleft phenotypes and subphenotypes were determined based on clinical examination. Genomic DNA was extracted from oral mucosa cells obtained by mouthwash. The EGF+61 A>G polymorphism genotype was determined by polymerase chain reaction-restriction fragment length polymorphism.Results We noticed the association between maternal alcohol consumption during pregnancy and cleft occurrence. The A allele and AA genotype were over-represented in cleft cases compared with control group when we considered the bilateral cleft lip with or without cleft palate (CL±P) cases, cleft cases with tooth agenesis and cleft cases presenting family history of cleft, but the differences were not statistically significant. Contradictorily, the G allele was higher in cleft palate only (CP) cases than in control group, showing a borderline p value. Comparing the different cleft phenotypes, we observed statistical differences between CP and CL±P cases. Our data suggest the EGF+61 A>G polymorphism was not related with nonsyndromic oral clefts susceptibility in a Brazilian

  20. The functional EGF+61 polymorphism and nonsyndromic oral clefts susceptibility in a Brazilian population

    PubMed Central

    FALAGAN-LOTSCH, Priscila; LOPES, Talíria Silva; KÜCHLER, Erika Calvano; TANNURE, Patrícia Nivoloni; COSTA, Marcelo de Castro; de AMORIM, Lidia Maria da Fonte; GRANJEIRO, José Mauro

    2015-01-01

    Nonsyndromic oral clefts are considered a problem of public health in Brazil, presenting a multifactorial etiology that involves genetic and environmental components, such as maternal alcohol consumption. Several candidate genes have been investigated to identify some association with nonsyndromic clefts risk. The epidermal growth factor (EGF) gene is implicated in the normal craniofacial development and its functional +61 A>G polymorphism has been related to cancer susceptibility. It has been suggested that cancer and oral clefts may share the same molecular pathways. Objective Our goal was to evaluate the association between the EGF+61 A>G polymorphism and nonsyndromic oral clefts susceptibility. Material and Methods The case-control study included 218 cleft cases and 253 controls from Brazil. The control group was comprised of individuals without congenital malformations, dental anomalies and family history of clefts. The cleft phenotypes and subphenotypes were determined based on clinical examination. Genomic DNA was extracted from oral mucosa cells obtained by mouthwash. The EGF+61 A>G polymorphism genotype was determined by polymerase chain reaction-restriction fragment length polymorphism. Results We noticed the association between maternal alcohol consumption during pregnancy and cleft occurrence. The A allele and AA genotype were over-represented in cleft cases compared with control group when we considered the bilateral cleft lip with or without cleft palate (CL±P) cases, cleft cases with tooth agenesis and cleft cases presenting family history of cleft, but the differences were not statistically significant. Contradictorily, the G allele was higher in cleft palate only (CP) cases than in control group, showing a borderline p value. Comparing the different cleft phenotypes, we observed statistical differences between CP and CL±P cases. Our data suggest the EGF+61 A>G polymorphism was not related with nonsyndromic oral clefts susceptibility in a

  1. Cleft lip with or without cleft palate: Associations with transforming growth factor alpha and retinoic acid receptor loci

    SciTech Connect

    Chenevix-Trench, G.; Jones, K. Univ. of Queensland ); Green, A.C.; Duffy, D.L.; Martin, N.G. )

    1992-12-01

    The first association study of cleft lip with or without cleft palate (CL/P), with candidate genes, found an association with the transforming growth-factor alpha (TGFA) locus. This finding has since been replicated, in whole or in part, in three independent studies. Here the authors extend their original analysis of the TGFA TaqI RFLP to two other TGFA RFLPs and seven other RFLPs at five candidate genes in 117 nonsyndromic cases of CL/P and 113 controls. The other candidate genes were the retinoic acid receptor (RARA), the bcl-2 oncogene, and the homeobox genes 2F, 2G, and EN2. Significant associations with the TGFA TaqI and BamHI RFLPs were confirmed, although associations of clefting with previously reported haplotypes did not reach significance. Of particular interest, in view of the known teratogenic role of retinoic acid, was a significant association with the RARA PstI RFLP (P = .016; not corrected for multiple testing). The effect on risk of the A2 allele appears to be additive, and although the A2A2 homozygote only has an odds ratio of about 2 and recurrence risk to first-degree relatives ([lambda][sub 1]) of 1.06, because it is so common it may account for as much as a third of the attributable risk of clefting. There is no evidence of interaction between the TGFA and RARA polymorphisms on risk, and jointly they appear to account for almost half the attributable risk of clefting. 43 refs., 1 fig., 4 tabs.

  2. Oral clefts: a retrospective study of prevalence and predisposal factors in the State of Mexico.

    PubMed

    González, Blanca S; López, María L; Rico, Martha A; Garduño, Fernando

    2008-06-01

    The purpose of this study was to up-date the records concerning oral clefts (OCs) encountered at the Child Hospital of the Maternal Infantile Institute of the State of México, and to examine the association of predisposing factors. A retrospective study of the medical records of patients generated over a 5-year period was carried out. A total of 835 files were reviewed, representing 504 boys and 331 girls. The studied variables were the type of oral clefts and predisposing factors. Kendal correlations at P < or = 0.05 and chi-squared at P < or = 0.05 were used to find any associations between variables. The distribution of oral cleft was: cleft lip and palate (CLP) 70%, cleft palate (CP) 21%, cleft lip (CL) 8%, separate cleft lip and cleft palate 1%. The sex ratios were 1.7 for CLP, 1.7 for CL, and 1 for CP. Municipalities with ethnic groups as well as industrial, agricultural and pottery activities showed a high rate of prevalence. Although there was no significant association with birth weight, familial history of clefting, consanguinity, medication usage during pregnancy, or paternal occupational risk, the results suggested that the most severe clefts were proportionally related to these factors. A significant association with maternal and paternal age, abortion rate, and parity was found. Additionally, maternal agricultural activities suggested that pesticide exposure might be a factor. PMID:18587200

  3. Clinical Outcomes of Primary Palatal Surgery in Children with Nonsyndromic Cleft Palate with and without Lip

    PubMed Central

    Ha, Seunghee; Koh, Kyung S.; Moon, Heewon; Jung, Seungeun; Oh, Tae Suk

    2015-01-01

    This study presents clinical outcomes of primary cleft palate surgery, including rate of oronasal fistula development, rate of velopharyngeal insufficiency (VPI) requiring secondary surgery, and speech outcomes. We examined the effect of cleft type on the clinical outcomes. Retrospective analysis was performed using clinical records of all patients who received a primary palatoplasty at the Cleft Palate Clinic at Seoul Asan Medical Center, South Korea, between 2007 and 2012. The study included 292 patients with nonsyndromic overt cleft palate (±cleft lip). The results revealed that the rate of oronasal fistula was 7.9% and the incidence of VPI based on the rate of secondary palatal surgery was 19.2%. The results showed that 50.3% of all the patients had received speech therapy and 28.8% and 51.4% demonstrated significant hypernasality and articulatory deficits, respectively. The results of the rate of VPI and speech outcomes were significantly different in terms of cleft type. Except for the rate of oronasal fistula, patients with cleft palate generally exhibited better clinical outcomes compared to those with bilateral or unilateral cleft lip and palate. This study suggests that several factors, including cleft type, should be identified and comprehensively considered to establish an optimal treatment regimen for patients with cleft palate. PMID:26273593

  4. Prevalence of Associated Anomalies in Cleft Lip and/or Palate Patients

    PubMed Central

    Abdollahi Fakhim, Shahin; Shahidi, Nikzad; Lotfi, Alireza

    2016-01-01

    Introduction: Orofacial clefts are among the most common congenital anomalies. Patients presenting with orofacial clefts often require surgery or other complex procedures. A cleft lip or palate can be a single anomaly or a part of multiple congenital anomalies. The reported prevalence of cleft disease and associated anomalies varies widely across the literature, and is dependent on the diagnostic procedure used. In this study we determined the prevalence of associated anomalies in patients with a cleft lip and/or palate, with a specific focus on cardiac anomalies. Materials and Methods: In this cross-sectional study, 526 patients with a cleft lip and /or palate admitted to the children’s referral hospital between 2006 and 2011 were evaluated. All associated anomalies were detected and recorded. Patient information collected included age, gender, type and side of cleft, craniofacial anomalies and presence of other anomalies, including cardiac anomalies. Data were analyzed using SPSS version 16. Results: Of the 526 patients enrolled in the study, 58% (305) were male and 42% (221) were female. In total, 75% of patients (396) were aged between 4 and 8 years and 25% (130) were aged less than 4 years. The most common cleft type in our study was bilateral cleft palate. The most commonly associated anomaly among cleft patients, in 12% of cleft patients, was a cardiac anomaly. The most common cardiac anomaly was atrial septal defect (ASD). Conclusion: The prevalence of associated anomalies among orofacial cleft patients is high. The most common associated anomaly is cardiac anomaly, with ASD being the most common cardiac anomaly. There are no significant relationships between type of cleft and associated cardiac anomalies. PMID:27280100

  5. Orofacial clefts. A theoretical basis for their prevention and treatment.

    PubMed

    Fára, M; Jelínek, R; Peterka, M; Dostál, M; Hrivnáková, J

    1988-01-01

    In spite of the existing huge number of data on palate development as well as the incidence, experimental induction and clinical treatment of orofacial clefts, no unitary concept has been made available that would make possible their sorting out, further interpretation and extrapolation. The aim of this monograph has been to provide firm grounds for managing the data within categories consistent with the general principles of teratogenesis reformulated and extended upon the theory of morphogenetic systems, and, upon this basis, to evaluate the present chances of preventing the origin of orofacial clefts. Chapter 1 introduces the problem of birth defects that possess some distinct features in common with the recognised prime problems of present medicine, that is neoplastic and cardiovascular diseases. Orofacial clefts represent a substantial component of the human birth-defect spectrum that is a mere remnant of the original volume of teratogenesis estimated as affecting about 35% of human embryos. The merciful process of prenatal extinction of abnormal conceptuses, or terathanasia, reduces this eminent figure by approximately one order of magnitude. Basing upon the prevalence of clefts in embryos and infants we may say that the prenatal extinction of individuals with orofacial clefts lies somewhere between 70-90%. Chapter 2 deals with the history of recognising and formulating the general principles of teratology that go back to Isidore Geoffroy Saint-Hilaire. Estimating the contribution of the great personalities such as Dareste, Schwalbe, and J. G. Wilson, the chapter enumerates and describes the ten principles of teratogenesis as having arisen from the known rules extended and reformulated by the original theory of morphogenetic systems. In their sum, the principles constitute a deductive system defining teratogenesis at several levels of bioorganisation, capable of predicting the large-scale effects of environmental impact on animal and human reproduction

  6. An Empirical Approach to Modeling Ion Production Rates in Titan's Nightside Ionosphere

    NASA Astrophysics Data System (ADS)

    Richard, M. S.; Cravens, T.; Wylie, C.; Webb, D.; Chediak, Q.; Mandt, K.; Waite, J. H., Jr.; Rymer, A. M.; Bertucci, C.; Wellbrock, A.

    2014-12-01

    Ionization of neutrals by precipitating electrons and ions is the main source of Titan's nightside ionosphere. Electron densities generated by theoretical modes are much larger than densities measured by instruments onboard the Cassini Orbiter. This model density overabundance must result either from overproduction or from insufficient loss of ions. This presentation has two goals: (1) characterization of the role of electron impact ionization on the nightside ionosphere for different magnetospheric conditions, and (2) presentation of empirical ion production rates determined using densities measured by the Cassini Ion and Neutral Mass Spectrometer (INMS) on the nightside. The ionosphere between 1000 and 1400 km is emphasized. We adopt electron fluxes measured by the Cassini Plasma Spectrometer - Electron Spectrometer (CAPS-ELS) and the Magnetospheric Imaging Instrument (MIMI) as classified by Rymer et al. [2009]. The current work demonstrates that modeled and empirical ionization rates on the nightside are in agreement with an electron precipitation source above 1100 km. Ion production rate profiles for each of the cases outlined by Rymer et al. are constructed for various magnetic field topologies. Empirical production rate profiles are generated for deep nightside flybys of Titan. The results also suggest that at lower altitudes (below 1100 km) another source, such as ion precipitation, is probably needed.

  7. Further evidence of a relationship between the retinoic acid receptor alpha locus and nonsyndromic cleft lip with or without cleft palate (CL [+-] P)

    SciTech Connect

    Shaw, D.; Field, L. ); Ray, A. ); Marazita, M. )

    1993-11-01

    Chenevix-Trench et al. (1992) reported a significant difference between nonsyndromic cleft lip with or without cleft palate (CL [+-] P) cases and unrelated controls in the frequency of alleles at the retinoic acid receptor alpha (RARA) PstI RFLP located at 17q21.1. They also observed borderline significant (P = .055) differences between allele frequencies in subjects with cleft lip and palate (CL + P) compared with those with cleft lip only (CL). Retinoic acid (RA) is a known teratogen capable of producing cleft palate in rodents (Abbott and Birnbaum 1990). Chenevix-Tench et al. (1992) hypothesized that variation in susceptibility to the effects of RA in humans may result from alterations at the RARA locus. We have investigated association and linkage between CL [+-] P and a microsatellite marker (D17S579) located at 17q21 (Hall et al. 1992), selected for its proximity to RARA, in 14 extended multiplex families from rural West Bengal, India.

  8. The Variability of HCN in Titan’s Upper Atmosphere as Implied by the Cassini Ion-Neutral Mass Spectrometer Measurements

    NASA Astrophysics Data System (ADS)

    Cui, J.; Cao, Y.-T.; Lavvas, P. P.; Koskinen, T. T.

    2016-07-01

    HCN is an important constituent in Titan’s upper atmosphere, serving as the main coolant in the local energy budget. In this study, we derive the HCN abundance at the altitude range of 960–1400 km, combining the Ion-Neutral Mass Spectrometer data acquired during a large number of Cassini flybys with Titan. Typically, the HCN abundance declines modestly with increasing altitude and flattens to a near constant level above 1200 km. The data reveal a tendency for dayside depletion of HCN, which is clearly visible below 1000 km but weakens with increasing altitude. Despite the absence of convincing anti-correlation between HCN volume mixing ratio and neutral temperature, we argue that the variability in HCN abundance makes an important contribution to the large temperature variability observed in Titan’s upper atmosphere.

  9. Palatoglossal fusion with cleft palate and hypoplasia of cerebellar vermis.

    PubMed

    Solanki, Shailesh; Babu, M Narendra; Gowrishankar; Ramesh, S

    2016-01-01

    A new-born male presented within 12 h of birth with respiratory distress. On examination and workup, he had palatoglossal fusion, cleft palate and hypoplasia of the cerebellar vermis. A 2.5 Fr endotracheal tube was inserted into the pharynx through nostril as a nasopharyngeal stent, following which his respiratory distress improved. Once child was optimised, then feeding was started by nasogastric tube and feeds were tolerated well. Elective tracheostomy and gastrostomy were done, followed by release of adhesions between the tongue and palate at a later stage. Review of literature suggests that palatoglossal fusion is uncommon and presents as an emergency. Mostly, these oral synechiae are associated with digital and/or cardiac anomaly. Other disorders associated with intra-oral synechiae include congenital alveolar synechiae, van der Woude syndrome, popliteal pterygium syndrome and oromandibular limb hypogenesis syndrome. The authors report a hitherto undescribed association of palatoglossal fusion with cleft palate and hypoplasia of the cerebellar vermis. PMID:27274132

  10. Genetic and environmental factors in human cleft lip and palate.

    PubMed

    Vieira, Alexandre R

    2012-01-01

    Cleft lip and palate is the most common craniofacial birth defect and its etiology has been the focus of many reports in the literature. It is well accepted that both genetics and environment play a role in the condition, however we still have not been able to translate what have been learned into clinical applications. This paper provides an interpretation of the latest research findings in humans and a perspective for where the field is going. The latest effort in gene identification and the associations between isolated cleft lip and palate and the loci harboring IRF6 (1q32) and 8q24.21 are highlighted, as well as the latest insight from more sophisticated phenotypical characterization and the inclusion of covariables related to the environment in the analysis of genetic variation. PMID:22759667

  11. Complex segregation analysis of facial clefting in Chile.

    PubMed

    Palomino, H; Cerda-Flores, R M; Blanco, R; Palomino, H M; Barton, S A; de Andrade, M; Chakraborty, R

    1997-01-01

    Nonsyndromic cleft lip with or without cleft palate (CL/P) has an incidence of 1.5 per 1,000 live births in Chile, with 1.7 per 1,000 in males and 1.3 per 1,000 in females, which is nearly the same as the level found in Asian populations. The high rate of occurrence of CL/P in Chile is probably due to the presence of Amerindian genes in Chilean populations. Using the computer program PAP, a complex segregation analysis of CL/P was conducted for 67 multigeneration pedigrees from Chile, each ascertained from one affected proband. These pedigrees yielded 162 affected individuals and over 898 family members who were included in the analysis. The most parsimonious model of transmission indicated the presence of an autosomal dominant gene with reduced (20-25%) penetrance. PMID:9224940

  12. Academic Achievement in Children With Oral Clefts Versus Unaffected Siblings

    PubMed Central

    Wehby, George L.; Barron, Sheila; Romitti, Paul A.; Ansley, Timothy N.; Speltz, Matthew L.

    2014-01-01

    Objective To compare academic achievement in children with oral-facial clefts (OFC) with their unaffected siblings. Methods 256 children with OFC were identified from the Iowa Registry for Congenital and Inherited Disorders, and 387 unaffected siblings were identified from birth certificates. These data were linked to Iowa Testing Programs achievement data. We compared academic achievement in children with OFC with their unaffected siblings using linear regression models, adjusted for potential confounders. In post hoc analyses, we explored modifiers of siblings’ academic performance. Results Achievement scores were similar between children with OFC and their siblings. Children with cleft palate only were significantly more likely to use special education than their unaffected siblings. Siblings’ academic achievement was inversely related to distance in birth order and age from the affected child. Conclusion Children with OFC and their siblings received similar achievement scores. Younger siblings, in particular, may share a vulnerability to poor academic outcomes. PMID:24993102

  13. Palatoglossal fusion with cleft palate and hypoplasia of cerebellar vermis

    PubMed Central

    Solanki, Shailesh; Babu, M. Narendra; Gowrishankar; Ramesh, S.

    2016-01-01

    A new-born male presented within 12 h of birth with respiratory distress. On examination and workup, he had palatoglossal fusion, cleft palate and hypoplasia of the cerebellar vermis. A 2.5 Fr endotracheal tube was inserted into the pharynx through nostril as a nasopharyngeal stent, following which his respiratory distress improved. Once child was optimised, then feeding was started by nasogastric tube and feeds were tolerated well. Elective tracheostomy and gastrostomy were done, followed by release of adhesions between the tongue and palate at a later stage. Review of literature suggests that palatoglossal fusion is uncommon and presents as an emergency. Mostly, these oral synechiae are associated with digital and/or cardiac anomaly. Other disorders associated with intra-oral synechiae include congenital alveolar synechiae, van der Woude syndrome, popliteal pterygium syndrome and oromandibular limb hypogenesis syndrome. The authors report a hitherto undescribed association of palatoglossal fusion with cleft palate and hypoplasia of the cerebellar vermis. PMID:27274132

  14. [Ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome, report of a case with variable expressivity].

    PubMed

    Meza Escobar, Luis Enrique; Isaza, Carolina; Pachajoa, Harry

    2012-10-01

    The ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome is a rare entity associated with mutations in the genes that express the protein p63. We present a case of a patient with right foot ectrodactyly associated with cleft lip and palate, without other evident anomalies. The patient has a positive familiar history for cleft lift and palate and mortality during the perinatal period. The management of each case must be specific and multidisciplinary. PMID:23070194

  15. Epidemiology, Etiology, and Treatment of Isolated Cleft Palate.

    PubMed

    Burg, Madeleine L; Chai, Yang; Yao, Caroline A; Magee, William; Figueiredo, Jane C

    2016-01-01

    Isolated cleft palate (CPO) is the rarest form of oral clefting. The incidence of CPO varies substantially by geography from 1.3 to 25.3 per 10,000 live births, with the highest rates in British Columbia, Canada and the lowest rates in Nigeria, Africa. Stratified by ethnicity/race, the highest rates of CPO are observed in non-Hispanic Whites and the lowest in Africans; nevertheless, rates of CPO are consistently higher in females compared to males. Approximately fifty percent of cases born with cleft palate occur as part of a known genetic syndrome or with another malformation (e.g., congenital heart defects) and the other half occur as solitary defects, referred to often as non-syndromic clefts. The etiology of CPO is multifactorial involving genetic and environmental risk factors. Several animal models have yielded insight into the molecular pathways responsible for proper closure of the palate, including the BMP, TGF-β, and SHH signaling pathways. In terms of environmental exposures, only maternal tobacco smoke has been found to be strongly associated with CPO. Some studies have suggested that maternal glucocorticoid exposure may also be important. Clearly, there is a need for larger epidemiologic studies to further investigate both genetic and environmental risk factors and gene-environment interactions. In terms of treatment, there is a need for long-term comprehensive care including surgical, dental and speech pathology. Overall, five main themes emerge as critical in advancing research: (1) monitoring of the occurrence of CPO (capacity building); (2) detailed phenotyping of the severity (biology); (3) understanding of the genetic and environmental risk factors (primary prevention); (4) access to early detection and multidisciplinary treatment (clinical services); and (5) understanding predictors of recurrence and possible interventions among families with a child with CPO (secondary prevention). PMID:26973535

  16. A Case of Atypical Cleft Hand - Reported with Ontogenetic Review

    PubMed Central

    Kundu, Sujit Kumar; Datta, Abhijit

    2014-01-01

    An asymptomatic atypical U shaped cleft hand has been found in a 21-year-old lady attending OPD. On digital skiagram it was found that central digits were absent with remnants of bases of the metacarpals, which have fused with the carpal bones. Moreover, the scaphoid and trapezium had fused to form a single mass. There was no other anomaly in other limbs, so far searched for. An endeavor has been made to explain the anomaly with ontogenetic review. PMID:25653934

  17. Epidemiology, Etiology, and Treatment of Isolated Cleft Palate

    PubMed Central

    Burg, Madeleine L.; Chai, Yang; Yao, Caroline A.; Magee, William; Figueiredo, Jane C.

    2016-01-01

    Isolated cleft palate (CPO) is the rarest form of oral clefting. The incidence of CPO varies substantially by geography from 1.3 to 25.3 per 10,000 live births, with the highest rates in British Columbia, Canada and the lowest rates in Nigeria, Africa. Stratified by ethnicity/race, the highest rates of CPO are observed in non-Hispanic Whites and the lowest in Africans; nevertheless, rates of CPO are consistently higher in females compared to males. Approximately fifty percent of cases born with cleft palate occur as part of a known genetic syndrome or with another malformation (e.g., congenital heart defects) and the other half occur as solitary defects, referred to often as non-syndromic clefts. The etiology of CPO is multifactorial involving genetic and environmental risk factors. Several animal models have yielded insight into the molecular pathways responsible for proper closure of the palate, including the BMP, TGF-β, and SHH signaling pathways. In terms of environmental exposures, only maternal tobacco smoke has been found to be strongly associated with CPO. Some studies have suggested that maternal glucocorticoid exposure may also be important. Clearly, there is a need for larger epidemiologic studies to further investigate both genetic and environmental risk factors and gene-environment interactions. In terms of treatment, there is a need for long-term comprehensive care including surgical, dental and speech pathology. Overall, five main themes emerge as critical in advancing research: (1) monitoring of the occurrence of CPO (capacity building); (2) detailed phenotyping of the severity (biology); (3) understanding of the genetic and environmental risk factors (primary prevention); (4) access to early detection and multidisciplinary treatment (clinical services); and (5) understanding predictors of recurrence and possible interventions among families with a child with CPO (secondary prevention). PMID:26973535

  18. A case of atypical cleft hand - reported with ontogenetic review.

    PubMed

    Kundu, Sujit Kumar; Roy, Hironmoy; Datta, Abhijit

    2014-12-01

    An asymptomatic atypical U shaped cleft hand has been found in a 21-year-old lady attending OPD. On digital skiagram it was found that central digits were absent with remnants of bases of the metacarpals, which have fused with the carpal bones. Moreover, the scaphoid and trapezium had fused to form a single mass. There was no other anomaly in other limbs, so far searched for. An endeavor has been made to explain the anomaly with ontogenetic review. PMID:25653934

  19. Mid-face osteotomy in the adolescent cleft palate patient.

    PubMed

    Fitzpatrick, B

    1977-10-01

    Retrognathia or retrusion of the maxilla and mid-face is present in about one-third of treated cleft palate patients. Surgical repositioning of either the dental segments, or the entire mid-face into a forward position, can greatly enhance appearance and at the same time provide for a more functional occlusion. Some surgical aspects of this work are presented together with an evaluation of soft tissue change. PMID:277152

  20. Presurgical nasoalveolar molding in unilateral cleft lip and palate

    PubMed Central

    Hegde, Rahul J.; Kharkar, Viraj R.; Kamath, Shamika

    2015-01-01

    Unilateral cleft lip and palate (UCLP) patients have an esthetic and functional compromise of the middle third of the face and nasal structures. To improve the esthetic result of lip repair, the concept of presurgical nasoalveolar molding (PNAM) was brought into conception. PNAM is an easy and passive method of bringing the alveolus and lips together by redirecting the forces of natural growth. This case report documents a 2-year follow-up of PNAM in UCLP. PMID:26681868

  1. The Essential Anatomical Subunit Approximation Unilateral Cleft Lip Repair.

    PubMed

    Chong, David K; Swanson, Jordan W

    2016-07-01

    The anatomical subunit approximation cleft lip repair advantageously achieves a balanced lip contour, with the line of repair hidden along seams of aesthetic subunits. Dr. David Fisher's original description of the repair reflects the considerable thought that went into the evolution of his design. As his technique has gained acceptance in the intervening 10 years, the authors note several key principles embodied in it that represent a shift in the cleft lip repair paradigm. The authors believe understanding these principles is important to mastery of the anatomical subunit technique, and facilitate its teaching. First, design a plan that adheres to anatomical subunits and perform measurements precisely. Second, identify and adequately release each cleft tissue layer from the lip and nose to enable restoration of balance. Third, drive surgical approximation through inset of the lateral muscle into the superiorly backcut medial orbicularis muscle, followed by skin closure with inferior triangle interposition above the white roll. In this article, the authors present essential components of the technique, and identify several principles that enable its successful execution. PMID:27348690

  2. The role of folate metabolism in orofacial development and clefting.

    PubMed

    Wahl, Stacey E; Kennedy, Allyson E; Wyatt, Brent H; Moore, Alexander D; Pridgen, Deborah E; Cherry, Amanda M; Mavila, Catherine B; Dickinson, Amanda J G

    2015-09-01

    Folate deficiency has been associated with numerous diseases and birth defects including orofacial defects. However, whether folate has a role in the face during early orofacial development has been unclear. The present study reveals that pharmacological and antisense oligonucleotide mediated inhibition of DHFR, an integral enzyme in the folate pathway, results in specific changes in the size and shape of the midface and embryonic mouth. Such defects are accompanied by a severe reduction in the muscle and cartilage jaw elements without significant change in neural crest pattern or global levels of methylation. We propose that the orofacial defects associated with DHFR deficient function are the result of decreased cell proliferation and increased cell death via DNA damage. In particular, localized apoptosis may also be depleting the cells of the face that express crucial genes for the differentiation of the jaw structures. Folate supplementation is widely known to reduce human risk for orofacial clefts. In the present study, we show that activating folate metabolism can reduce median oral clefts in the primary palate by increasing cell survival. Moreover, we demonstrate that a minor decrease in DHFR function exacerbates median facial clefts caused by RAR inhibition. This work suggests that folate deficiencies could be a major contributing factor to multifactorial orofacial defects. PMID:26144049

  3. Non-cleft causes of velopharyngeal dysfunction: implications for treatment.

    PubMed

    Kummer, Ann W; Marshall, Jennifer L; Wilson, Margaret M

    2015-03-01

    Although a history of cleft palate is the most common cause of velopharyngeal dysfunction (VPD), there are other disorders that can also cause hypernasality and/or nasal emission. These include other structural anomalies of the velopharyngeal valve (velopharyngeal insufficiency), neurophysiological disorders that result in inadequate velopharyngeal movement (velopharyngeal incompetence), and even faulty articulation placement in the pharynx (velopharyngeal mislearning). Unfortunately, individuals with non-cleft causes of hypernasality and/or nasal emission do not typically present at a cleft palate/craniofacial center where there are professionals who specialize in the evaluation and treatment of these disorders. As a result, they are often misdiagnosed and do not receive appropriate treatment. In this review, we present various conditions that can cause hypernasality and/or nasal emission during speech. We discuss appropriate treatment based on the underlying cause of the condition. It is important that pediatric otolaryngologists are able to recognize these disorders so that affected patients are referred to specialists in velopharyngeal dysfunction for treatment. PMID:25604261

  4. Clinical Aspects associated with Syndromic forms of Orofacial Clefts in a Colombian population

    PubMed Central

    Briceño Balcazar, Ignacio; Martinez Lozano, Julio; Collins, Andrew; Uricoechea Patiño, Daniel Alfredo

    2015-01-01

    Objectives: To present descriptive epidemiology of Orofacial Clefts and to determine the association of syndromic forms with antenatal high-risk conditions, preterm birth, and comorbidities among nested-series of cases. Methods: A study of nested-series of cases was conducted. Frequencies of cleft type, associated congenital anomalies, syndromic, non-syndromic and multiple malformation forms, and distribution of Orofacial Clefts according to sex and affected-side were determined. Odds ratios were calculated as measures of association between syndromic forms and antenatal high-risk conditions, preterm birth and comorbidities. A total of three hundred and eleven patients with Orofacial Clefts were assessed in a 12-month period. Results: The most frequent type of Orofacial Clefts was cleft lip and palate, this type of cleft was more frequent in males, whereas cleft palate occurred more often in females. The most common cases occurred as non-syndromic forms. Aarskog-Scott syndrome showed the highest frequency amongst syndromic forms. Hypertensive disorders in pregnancy, developmental dysplasia of the hip, central nervous diseases and respiratory failure showed significant statistical associations (p <0.05) with syndromic forms. Conclusions: These data provide an epidemiological reference of Orofacial Clefts in Colombia. Novel associations between syndromic forms and clinical variables are determined. In order to investigate causality relationships between these variables further studies must be carried out. PMID:26848196

  5. Oral clefts with associated anomalies: findings in the Hungarian Congenital Abnormality Registry

    PubMed Central

    Sárközi, Andrea; Wyszynski, Diego F; Czeizel, Andrew E

    2005-01-01

    Background Over the years, great efforts have been made to record the frequency of orofacial clefts in different populations. However, very few studies were able to account for the etiological and phenotypic heterogeneity of these conditions. Thus, data of cases with syndromic orofacial clefts from large population-based studies are infrequent. Methods Clinically recognized and notified syndromes and associations including cleft lip with or without cleft palate and other congenital anomalies were selected from the Hungarian Congenital Abnormality Registry (HCAR) between 1973 and 1982 and prevalence rates were calculated. Results Of 3,110 cases reported as having orofacial clefts, 653 had multiple congenital abnormalities. Of these, 60 (9.2%) had a known etiology (monogenic: 25 or 3.8%, chromosomal: 31 or 4.7%, teratogenic: 4 or 0.6%). Seventy-three subjects (11.2%) had schisis in addition to the oral cleft. Skeletal anomalies were the most common malformations among cases with cleft lip with/without cleft palate (CL/P) and cleft palate (CP). Disorders of the central nervous system and cardiovascular malformations were also frequently associated. Conclusion Surveillance systems, such as the HCAR, provide useful information about prevalence rates of congenital anomalies in a population. However, in a field where new syndromes are being discovered and classifications regularly updated, these rates should only be accepted as provisional. PMID:15985166

  6. A Multisite Study of Oral Clefts and Associated Abnormalities in Thailand: The Epidemiologic Data

    PubMed Central

    Thanaviratananich, Sanguansak; Chichareon, Vichai; Kamolnate, Anan; Uewichitrapochana, Chusak; Godfrey, Keith

    2015-01-01

    Abstract Background: This study aimed to obtain epidemiological data of birth incidences of cleft lips and/or cleft palates (CLP) in the Thai population with associated risk factors. Methods: The data were collected for a period of 12 months between 2003 and 2004 for infants’ deliveries with CLP and associated risk factors in all hospitals of 6 provinces from 4 regions of Thailand. The birth incidence, related factors with cleft birth, and linkage with geographical area were analyzed by the geographic information system. Results: Phitsanulok, Saraburi, and Khon Kaen had higher birth incidences for CLP of 2.01, 1.69, and 1.66 per 1000 live births, respectively, and the overall birth incidence was 1.51 per 1000 live births. There were a total of 112 cleft births (61 males and 51 females) with 43 cleft lips, 18 cleft palates, and 51 cleft lips + cleft palates. The northeast region had infants with different gestational ages at birth and mothers with higher intakes of vitamins and a use of vitamin A supplement or retinoic acid than others. A use of folic acid supplement was low in all 4 regions. Conclusions: The varied incidence of CLP may reflect the incomplete accuracy of case ascertainment. A number of challenges were addressed. The geographic information system was helpful for more background investigation and planning of cleft care management. Our study enables future studies of etiological factors and future birth registries. PMID:26894008

  7. The impact of cleft lip and palate repair on maxillofacial growth

    PubMed Central

    Shi, Bing; Losee, Joseph E

    2015-01-01

    Surgical correction is central to current team-approached cleft treatment. Cleft surgeons are always concerned about the impact of their surgical maneuver on the growth of the maxilla. Hypoplastic maxilla, concaved mid-face and deformed dental arch have constantly been reported after cleft treatments. It is very hard to completely circumvent these postoperative complications by current surgical protocols. In this paper, we discussed the factors that inhibit the maxillofacial growth on cleft patients. These factors included pre-surgical intervention, the timing of cleft palate and alveolae repair, surgical design and treatment protocol. Also, we made a review about the influence on the maxillary growth in un-operated cleft patients. On the basis of previous researches, we can conclude that most of scholars express identity of views in these aspects: early palatoplasty lead to maxilla growth inhibition in all dimensions; secondary alveolar bone graft had no influence on maxilla sagittal growth; cleft lip repair inhibited maxilla sagittal length in patients with cleft lip and palate; Veau's pushback palatoplasty and Langenbeck's palatoplasty with relaxing incisions were most detrimental to growth; Furlow palatoplasty showed little detrimental effect on maxilla growth; timing of hard palate closure, instead of the sequence of hard or soft palate repair, determined the postoperative growth. Still, scholars hold controversial viewpoints in some issues, for example, un-operated clefts have normal growth potential or not, pre-surgical intervention and pharyngoplasty inhibited maxillofacial growth or not. PMID:25394591

  8. Description of a clinical technique for tooth extraction in the cleft lip and palate area.

    PubMed

    Dalben, G S; Gomide, M R; Costa, B; Neves, L T

    2001-03-01

    Cleft lip and palate are relatively common congenital malformations, which may require specialist paedodontic treatment. In this article, the case of a 9-year-old boy with bilateral complete cleft lip and palate is presented. He attended the Hospital for Rehabilitation of Craniofacial Anomalies (HRAC) for routine examination, during which the presence of pre-canine supernumeraries bilaterally in the cleft area was seen. The extraction of these dental elements was justified by extensive carious lesions and because they represented a potential problem during secondary palatoplasty. The precautions needed in tooth extraction in patients with cleft lip and palate are described, together with illustrations of the clinical procedure. PMID:11310139

  9. The impact of cleft lip and palate repair on maxillofacial growth.

    PubMed

    Shi, Bing; Losee, Joseph E

    2015-03-01

    Surgical correction is central to current team-approached cleft treatment. Cleft surgeons are always concerned about the impact of their surgical maneuver on the growth of the maxilla. Hypoplastic maxilla, concaved mid-face and deformed dental arch have constantly been reported after cleft treatments. It is very hard to completely circumvent these postoperative complications by current surgical protocols. In this paper, we discussed the factors that inhibit the maxillofacial growth on cleft patients. These factors included pre-surgical intervention, the timing of cleft palate and alveolae repair, surgical design and treatment protocol. Also, we made a review about the influence on the maxillary growth in un-operated cleft patients. On the basis of previous researches, we can conclude that most of scholars express identity of views in these aspects: early palatoplasty lead to maxilla growth inhibition in all dimensions; secondary alveolar bone graft had no influence on maxilla sagittal growth; cleft lip repair inhibited maxilla sagittal length in patients with cleft lip and palate; Veau's pushback palatoplasty and Langenbeck's palatoplasty with relaxing incisions were most detrimental to growth; Furlow palatoplasty showed little detrimental effect on maxilla growth; timing of hard palate closure, instead of the sequence of hard or soft palate repair, determined the postoperative growth. Still, scholars hold controversial viewpoints in some issues, for example, un-operated clefts have normal growth potential or not, pre-surgical intervention and pharyngoplasty inhibited maxillofacial growth or not. PMID:25394591

  10. Association of AXIN2 with non-syndromic oral clefts in multiple populations.

    PubMed

    Letra, A; Bjork, B; Cooper, M E; Szabo-Rogers, H; Deleyiannis, F W B; Field, L L; Czeizel, A E; Ma, L; Garlet, G P; Poletta, F A; Mereb, J C; Lopez-Camelo, J S; Castilla, E E; Orioli, I M; Wendell, S; Blanton, S H; Liu, K; Hecht, J T; Marazita, M L; Vieira, A R; Silva, R M

    2012-05-01

    We have previously shown the association of AXIN2 with oral clefts in a US population. Here, we expanded our study to explore the association of 11 AXIN2 markers in 682 cleft families from multiple populations. Alleles for each AXIN2 marker were tested for transmission distortion with clefts by means of the Family-based Association Test. We observed an association with SNP rs7224837 and all clefts in the combined populations (p = 0.001), and with SNP rs3923086 and cleft lip and palate in Asian populations (p = 0.004). We confirmed our association findings in an additional 528 cleft families from the United States (p < 0.009). We tested for gene-gene interaction between AXIN2 and additional cleft susceptibility loci. We assessed and detected Axin2 mRNA and protein expression during murine palatogenesis. In addition, we also observed co-localization of Axin2 with Irf6 proteins, particularly in the epithelium. Our results continue to support a role for AXIN2 in the etiology of human clefting. Additional studies should be performed to improve our understanding of the biological mechanisms linking AXIN2 to oral clefts. PMID:22370446

  11. Equatorward shift of the cleft during magnetospheric substorms as observed by Isis 1

    NASA Technical Reports Server (NTRS)

    Yasuhara, F.; Akasofu, S.-I.; Winningham, J. D.; Heikkila , W. J.

    1973-01-01

    Isis 1 satellite observations of the cleft position during magnetospheric substorms show that the cleft shifts equatorward as the interplanetary B sub z component turns southward and substorm activity increases and that it shifts back toward higher latitudes as substorm activity subsides and B sub z returns northward. Also, unusually low latitudes for the cleft (less than 70 deg invariant latitude) were found during geomagnetic storms with significant Dst values and large negative B sub z values. Significant shifts occur in the cleft location with no accompanying effect seen in the AE index; however, B sub z is observed to be southward during these periods.

  12. Presurgical nasoalveolar molding orthopedic treatment improves the outcome of primary cheiloplasty of unilateral complete cleft lip and palate, as assessed by naris morphology and cleft gap.

    PubMed

    Sasaki, Hiroyoshi; Togashi, Shinji; Karube, Rei; Yanagawa, Toru; Nakane, Shizuo; Tabuchi, Katsuhiko; Ishibashi, Naomi; Shinya, Yoshiko; Ito, Hiroyuki; Yamagata, Kenji; Onizawa, Kojiro; Adachi, Koji; Sekido, Mitsuru; Bukawa, Hiroki

    2012-11-01

    We evaluated the effects of presurgical nasoalveolar molding (NAM) with an orthopedic appliance and compared them with a passive orthopedic method (Hotz plate, HP), focusing on the naris morphology and width of the alveolar and palate cleft gap. The subjects were 28 unilateral complete cleft lip and palate patients treated with primary cheiloplasty at Tsukuba University Hospital from 2004 to 2011. Thirteen patients were treated preoperatively with NAM (NAM group), and 15 with HP (HP group). The surgical outcome was assessed according to left-right naris symmetry, as measured by the area ratio, perimeter ratio, aspect a/u ratio (aspect ratio of the affected side/aspect ratio of the unaffected side), and Hausdorff distance. In addition, the alveolar and palate cleft width was measured at the times of orthopedic plate setting and primary cheiloplasty. The aspect ratio was significantly smaller in the NAM group than in the HP group before the operation. In both groups, the aspect ratio, perimeter ratio, and Hausdorff distance were significantly smaller after the operation than before. The width of the alveolar and palate cleft gap was significantly narrowed in the NAM group, and the cleft gap at the initiation of NAM correlated significantly with the Hausdorff distance after cheiloplasty. We found that NAM improved the form of the naris after primary cheiloplasty and decreased the palate cleft gap more effectively than HP and that the width of the palate cleft gap was correlated with the surgical outcome of the naris. PMID:23147280

  13. Rare Variants in the Epithelial Cadherin Gene Underlying the Genetic Etiology of Nonsyndromic Cleft Lip with or without Cleft Palate.

    PubMed

    Brito, Luciano Abreu; Yamamoto, Guilherme Lopes; Melo, Soraia; Malcher, Carolina; Ferreira, Simone Gomes; Figueiredo, Joana; Alvizi, Lucas; Kobayashi, Gerson Shigeru; Naslavsky, Michel Satya; Alonso, Nivaldo; Felix, Temis Maria; Zatz, Mayana; Seruca, Raquel; Passos-Bueno, Maria Rita

    2015-11-01

    Nonsyndromic orofacial cleft (NSOFC) is a complex disease of still unclear genetic etiology. To investigate the contribution of rare epithelial cadherin (CDH1) gene variants to NSOFC, we target sequenced 221 probands. Candidate variants were evaluated via in vitro, in silico, or segregation analyses. Three probably pathogenic variants (c.760G>A [p.Asp254Asn], c.1023T>G [p.Tyr341*], and c.2351G>A [p.Arg784His]) segregated according to autosomal dominant inheritance in four nonsyndromic cleft lip with or without cleft palate (NSCL/P) families (Lod score: 5.8 at θ = 0; 47% penetrance). A fourth possibly pathogenic variant (c.387+5G>A) was also found, but further functional analyses are needed (overall prevalence of CDH1 candidate variants: 2%; 15.4% among familial cases). CDH1 mutational burden was higher among probands from familial cases when compared to that of controls (P = 0.002). We concluded that CDH1 contributes to NSCL/P with mainly rare, moderately penetrant variants, and CDH1 haploinsufficiency is the likely etiological mechanism. PMID:26123647

  14. Linkage study of nonsyndromic cleft lip with or without cleft palate using candidate genes and mapped polymorphic markers

    SciTech Connect

    Stein, J.D.; Nelson, L.D.; Conner, B.J.

    1994-09-01

    Nonsyndromic cleft lip with or without cleft palate (CL(P)) involves fusion or growth failure of facial primordia during development. Complex segregation analysis of clefting populations suggest that an autosomal dominant gene may play a role in this common craniofacial disorder. We have ascertained 16 multigenerational families with CL(P) and tested linkage to 29 candidate genes and 139 mapped short tandem repeat markers. The candidate genes were selected based on their expression in craniofacial development or were identified through murine models. These include: TGF{alpha}, TGF{beta}1, TGF{beta}2, TGF{beta}3, EGF, EGFR, GRAS, cMyc, FGFR, Jun, JunB, PDFG{alpha}, PDGF{beta}, IGF2R, GCR Hox7, Hox8, Hox2B, twirler, 5 collagen and 3 extracellular matrix genes. Linkage was tested assuming an autosomal dominant model with sex-specific decreased penetrance. Linkage to all of the candidate loci was excluded in 11 families. RARA was tested and was not informative. However, haplotype analysis of markers flanking RARA on 17q allowed exclusion of this candidate locus. We have previously excluded linkage to 61 STR markers in 11 families. Seventy-eight mapped short tandem repeat markers have recently been tested in 16 families and 30 have been excluded. The remaining are being analyzed and an exclusion map is being developed based on the entire study results.

  15. Oral Clefting in China Over the Last Decade: 205,679 Patients

    PubMed Central

    Kling, Rochelle R.; Taub, Peter J.; Ye, Xiaoqian

    2014-01-01

    Background: China is the most populated country and has one of the highest prevalences of oral clefting. The present study reports the epidemiology and surgical procedures performed on the largest reported cohort of individuals with clefting in China. Methods: A retrospective review of patients who received cleft repair through Smile Train in China from 2000 to 2011 was conducted. Data on demographics, cleft characteristics, associated malformations, pregnancy and family history, and surgical technique were analyzed using SPSS (IBM, Chicago, Ill.). Results: A total of 205,679 patients underwent 209,169 cleft procedures. Cleft lip and palate (42.7%) was most common followed by isolated cleft palate (32.4%) and isolated cleft lip (24.9%). Males accounted for 63.5% of cases. The average age at initial surgery was 6.12 years. By 2011, this decreased to 1.8 years of age for lip repair and to 5.9 years of age for palate repair. The preferred techniques were rotation-advancement (55%) for unilateral lip repair and Von-Langenbeck (38%) and pushback (39%) for palate repair. The percentages of cases with associated anomalies and surgical complications were 12.8% and 0.36%, respectively. Conclusions: This study provides insight into cleft care in China as it reports the largest cohort of cleft patients treated by surgeons to date. Our results generally follow trends previously reported in China and developed countries. The male:female ratio for cleft palate patients was higher than expected. The average age at primary repair is higher than recommended, but seems to be decreasing. PMID:25426353

  16. Na+ Inhibits the Epithelial Na+ Channel by Binding to a Site in an Extracellular Acidic Cleft*

    PubMed Central

    Kashlan, Ossama B.; Blobner, Brandon M.; Zuzek, Zachary; Tolino, Michael; Kleyman, Thomas R.

    2015-01-01

    The epithelial Na+ channel (ENaC) has a key role in the regulation of extracellular fluid volume and blood pressure. ENaC belongs to a family of ion channels that sense the external environment. These channels have large extracellular regions that are thought to interact with environmental cues, such as Na+, Cl−, protons, proteases, and shear stress, which modulate gating behavior. We sought to determine the molecular mechanism by which ENaC senses high external Na+ concentrations, resulting in an inhibition of channel activity. Both our structural model of an ENaC α subunit and the resolved structure of an acid-sensing ion channel (ASIC1) have conserved acidic pockets in the periphery of the extracellular region of the channel. We hypothesized that these acidic pockets host inhibitory allosteric Na+ binding sites. Through site-directed mutagenesis targeting the acidic pocket, we modified the inhibitory response to external Na+. Mutations at selected sites altered the cation inhibitory preference to favor Li+ or K+ rather than Na+. Channel activity was reduced in response to restraining movement within this region by cross-linking structures across the acidic pocket. Our results suggest that residues within the acidic pocket form an allosteric effector binding site for Na+. Our study supports the hypothesis that an acidic cleft is a key ligand binding locus for ENaC and perhaps other members of the ENaC/degenerin family. PMID:25389295

  17. Analysis of Potential Oral Cleft Risk Factors in the Kosovo Population

    PubMed Central

    Salihu, Sami; Krasniqi, Blerim; Sejfija, Osman; Heta, Nijazi; Salihaj, Nderim; Geci, Agreta; Sejdini, Milaim; Arifi, Hysni; Isufi, Ramazan; Ueeck, Brett A.

    2014-01-01

    The aim of this study was to analyze the association of potential risk factors such as positive family cleft history, smoking, use of drugs during pregnancy, and parental age with oral clefts in offspring within the Kosovo population. We conducted a population-based case-control study of live births in Kosovo from 1996 to 2005. Using a logistic regression model, 244 oral cleft cases were compared with 488 controls. We have excluded all syndromic clefts. Heredity increases the risk of clefts in newborns [odds ratio (OR) = 8.25, 95% confidence interval (CI) 3.12–23.52]. Clefts were also associated with smoking (OR = 1.87, 95% CI 0.75–4.08), use of drugs during pregnancy (OR = 2.25, 95% CI 0.82–5.12), increasing maternal age (OR = 1.83, 95% CI 1.42–2.49), and increasing paternal age (OR = 1.3, 95% CI 1.2– 1.4). We found heredity to be the most important factor for cleft occurrence in Kosovar newborns. Another significant potential risk factor for occurrence of clefts is the parental age. We found the use of drugs and smoking during pregnancy to be less significant. PMID:24670027

  18. Subcutaneous Nasolabial Flap for Eliminating Depressed Nasal Floor in Adult Cleft Rhinoplasty: Technical Note.

    PubMed

    Rahpeyma, Amin; Khajehahmadi, Saeedeh; Torabizadeh Siraji, Arman

    2015-06-01

    Depressed nasal floor extension into the nostril in cleft patients is difficult to solve. Suggested ways for solving this problem need skin incisions other than routine open rhinoplasty incisions. Nasolabia subcutaneous flap makes the infrastructure in depressed nasal floor in cleft patients. Alar advancement and medial nasal floor triangular flap cover it. PMID:26180711

  19. Processing of Japanese Cleft Constructions in Context: Evidence from Event-Related Brain Potentials

    ERIC Educational Resources Information Center

    Yano, Masataka; Tateyama, Yuki; Sakamoto, Tsutomu

    2015-01-01

    Numerous studies have found "subject gap preference" in relative clauses and cleft constructions in English, French, and other languages. In contrast, previous studies have reported "object gap preference" in cleft constructions in Japanese. However, the effect of integrating a filler and its gap may be influenced by the effect…

  20. Nasalance Scores of Children with Repaired Cleft Palate Who Exhibit Normal Velopharyngeal Closure during Aerodynamic Testing

    ERIC Educational Resources Information Center

    Zajac, David J.

    2013-01-01

    Purpose: To determine if children with repaired cleft palate and normal velopharyngeal (VP) closure as determined by aerodynamic testing exhibit greater acoustic nasalance than control children without cleft palate. Method: Pressure-flow procedures were used to identify 2 groups of children based on VP closure during the production of /p/ in the…

  1. Verbal Competence in Narrative Retelling in 5-Year-Olds with Unilateral Cleft Lip and Palate

    ERIC Educational Resources Information Center

    Klintö, Kristina; Salameh, Eva-Kristina; Lohmander, Anette

    2015-01-01

    Background: Research regarding expressive language performance in children born with cleft palate is sparse. The relationship between articulation/phonology and expressive language skills also needs to be further explored. Aims: To investigate verbal competence in narrative retelling in 5-year-old children born with unilateral cleft lip and palate…

  2. A review of cleft lip and palate management: Experience of a Nigerian Teaching Hospital

    PubMed Central

    Efunkoya, Akinwale Adeyemi; Omeje, Kelvin Uchenna; Amole, Ibiyinka Olushola; Osunde, Otasowie Daniel; Akpasa, Izegboya Olohitae

    2015-01-01

    Background: Cleft lip (CL) and palate (CLP) management is multidisciplinary. A cleft team was formed in a Nigerian Tertiary Hospital to address the health needs of cleft patients in the centre. Aim: This paper aims at documenting the Aminu Kano Teaching Hospital (AKTH) management protocol for orofacial clefts and also to review our experience with CLP surgeries performed at AKTH since our partnering with Smile Train. Materials and Methods: A retrospective review of all the cleft patients surgically treated from January 2006 to December 2014 under Smile Train sponsorship was undertaken. A descriptive narrative of the cleft team protocol was also given. Results: One hundred and fifty-five patients (80 males, 75 females) had surgical repairs of either the lip or palate. CL patients were 83 (53.55%), while CLP patients were 45 (29.03%) and isolated cleft palate patients were 27 (17.42%). Conclusion: The inclusion of various specialities in the cleft team is highly desirable. Poverty level amongst our patients frequently limits our management to surgical treatment sponsored by the Smile Train, despite the presence of other residual problems. PMID:26712291

  3. The Young Child with Cleft Lip and Palate: Intervention Needs in the First Three Years.

    ERIC Educational Resources Information Center

    Edmonson, Rebecca; Reinhartsen, Debra

    1998-01-01

    Discusses the multiple medical, dental, therapeutic, psychosocial, and early intervention needs faced by children with cleft lip and cleft plate during the first three years of life. The physiological development of children with these disabilities is described and the need for interdisciplinary team involvement is emphasized. (Author/CR)

  4. Syntactic Structure and Information Structure: The Acquisition of Portuguese Clefts and "Be"-Fragments

    ERIC Educational Resources Information Center

    Lobo, Maria; Santos, Ana Lúcia; Soares-Jesel, Carla

    2016-01-01

    This article investigates the acquisition of different types of clefts and of "be"-fragments in European Portuguese. We first present the main syntactic and discourse properties of different cleft structures and of "be"-fragments in European Portuguese, and we discuss how data from first language acquisition may contribute to…

  5. Effects of Listening Instructions and Severity of Cleft Palate Speech on Listeners. Final Report.

    ERIC Educational Resources Information Center

    Shames, George H.; And Others

    Mothers of cleft and noncleft palate children (C- and non C-mothers) listened to a reading by a cleft palate child of a passage containing specified combinations of nasality and intelligibility. Groups were either uninstructed or instructed to listed to the content or the manner of speech; they assessed the nasality and intelligibility of the…

  6. Vocal Development of 9-Month-Old Babies with Cleft Palate.

    ERIC Educational Resources Information Center

    Chapman, Kathy L.; Hardin-Jones, Mary; Schulte, Julie; Halter, Kelli Ann

    2001-01-01

    This study compared the prelinguistic vocal development of 30 9- month-old babies with unrepaired cleft palate and age-matched peers (N=15). Fewer of the babies with cleft palate had reached the canonical babbling stage (57 percent versus 93 percent) and had smaller consonant inventories. However, syllable types and length and number of…

  7. Abnormal Patterns of Tongue-Palate Contact in the Speech of Individuals with Cleft Palate

    ERIC Educational Resources Information Center

    Gibbon, Fiona E.

    2004-01-01

    Individuals with cleft palate, even those with adequate velopharyngeal function, are at high risk for disordered lingual articulation. This article attempts to summarize current knowledge of abnormal tongue-palate contact patterns derived from electropalatographic (EPG) data in speakers with cleft palate. These data, which have been reported in 23…

  8. Perception of Place of Articulation by Children with Cleft Palate and Posterior Placement.

    ERIC Educational Resources Information Center

    Whitehill, Tara L.; Francis, Alexander L.; Ching, Christine K-Y.

    2003-01-01

    A study examined if 10 children (ages 4-12) with repaired cleft palate who demonstrate posterior placement of alveolar targets differed from 10 children with cleft palate without such error patterns, and from 10 controls in the perception of alveolar targets. Children with posterior placement appeared unable to distinguish alveolar targets.…

  9. EVIDENCE FOR EGFR PATHWAY MEDIATION OF CLEFT PALATE INDUCTION BY TCDD

    EPA Science Inventory

    EVIDENCE FOR EGFR PATHWAY MEDIATION OF CLEFT PALATE INDUCTION BY TCDD. B D Abbott, A R Buckalew, and K E Leffler. RTD, NHEERL, ORD,US EPA, RTP, NC, USA.

    2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD) is teratogenic in C57BL/6J mice, producing cleft palate (CP) after exposure...

  10. The Interrelationships between Ratings of Speech and Facial Acceptability in Persons with Cleft Palate.

    ERIC Educational Resources Information Center

    Sinko, Garnet R.; Hedrick, Dona L.

    1982-01-01

    Thirty untrained young adult observers rated the speech and facial acceptablity of 20 speakers with cleft palate. The observers were reliable in rating both speech and facial acceptability. Judgments of facial acceptability were generally more positive, suggesting that speech is generally judged more negatively in speakers with cleft palate.…

  11. Psychosocial Aspects of Cleft Lip and Palate: Implications for Parental Education. Research Report 138.

    ERIC Educational Resources Information Center

    Kalland, Mirjam

    This study focused on the psychosocial aspects of cleft lip and/or palate on maternal emotional reactions and the family, with emphasis on the effect on the maternal-infant bond. Interviews were conducted with 40 mothers of 1-year-old infants with non-syndromic cleft lip and/or palate. The interviews were analyzed using the phenomenological…

  12. A Respirometric Technique to Evaluate Velopharyngeal Function in Speakers with Cleft Palate, with and without Prostheses.

    ERIC Educational Resources Information Center

    Gilbert, Harvey R.; Ferrand, Carole T.

    1987-01-01

    Respirometric quotients (RQ), the ratio of oral air volume expended to total volume expended, were obtained from the productions of oral and nasal airflow of 10 speakers with cleft palate, with and without their prosthetic appliances, and 10 normal speakers. Cleft palate speakers without their appliances exhibited the lowest RQ values. (Author/DB)

  13. Acquisition of Linguistic and Cognitive Skills by Children with Cleft Palate.

    ERIC Educational Resources Information Center

    Broen, Patricia A.; Devers, Monica C.; Doyle, Shirley S.; Prouty, Jo McCauley; Moller, Karlind T.

    1998-01-01

    This study compared cognitive and linguistic development of young children with (N=28) and without (N=29) cleft palate. Children with cleft palate, although well within the normal range, performed significantly below the control group on cognitive and linguistic tests. Cognitive differences were linguistic in nature and were related to hearing…

  14. Current Controversies in Diagnosis and Management of Cleft Palate and Velopharyngeal Insufficiency

    PubMed Central

    Ysunza, Pablo Antonio; Repetto, Gabriela M.; Pamplona, Maria Carmen; Calderon, Juan F.; Shaheen, Kenneth; Chaiyasate, Konkgrit; Rontal, Matthew

    2015-01-01

    Background. One of the most controversial topics concerning cleft palate is the diagnosis and treatment of velopharyngeal insufficiency (VPI). Objective. This paper reviews current genetic aspects of cleft palate, imaging diagnosis of VPI, the planning of operations for restoring velopharyngeal function during speech, and strategies for speech pathology treatment of articulation disorders in patients with cleft palate. Materials and Methods. An updated review of the scientific literature concerning genetic aspects of cleft palate was carried out. Current strategies for assessing and treating articulation disorders associated with cleft palate were analyzed. Imaging procedures for assessing velopharyngeal closure during speech were reviewed, including a recent method for performing intraoperative videonasopharyngoscopy. Results. Conclusions from the analysis of genetic aspects of syndromic and nonsyndromic cleft palate and their use in its diagnosis and management are presented. Strategies for classifying and treating articulation disorders in patients with cleft palate are presented. Preliminary results of the use of multiplanar videofluoroscopy as an outpatient procedure and intraoperative endoscopy for the planning of operations which aimed to correct VPI are presented. Conclusion. This paper presents current aspects of the diagnosis and management of patients with cleft palate and VPI including 3 main aspects: genetics and genomics, speech pathology and imaging diagnosis, and surgical management. PMID:26273595

  15. Nasopharyngeal Development in Patients with Cleft Lip and Palate: A Retrospective Case-Control Study

    PubMed Central

    Wermker, Kai; Jung, Susanne; Joos, Ulrich; Kleinheinz, Johannes

    2012-01-01

    Introduction. The aim of this paper was to evaluate cephalometrically the nasopharyngeal development of patients with complete unilateral cleft lip and palate. Influencing factors were evaluated and cleft to noncleft subjects were compared to each other. Material and Methods. The lateral cephalograms of 66 patients with complete cleft lip and palate were measured and compared retrospectively to the cephalograms of 123 healthy probands. Measurements were derived from a standardized analysis of 56 landmarks. Results. We observed significant differences between cleft and control group: the cleft patients showed amaxillary retroposition and a reduced maxillary length; the inclination of the maxilla was significantly more posterior and cranial; the anterior nasopharyngeal height was reduced; the nasopharyngeal growth followed a vertical tendency with reduced sagittal dimensions concerning hard and soft tissue. The velum length was reduced. In the cleft group, an accumulation of mandibular retrognathia and an anterior position of the hyoid were observed. Skeletal configuration and type of growth were predominantly vertical. Conclusions. Our data provides a fundamental radiological analysis of the nasopharyngeal development in cleft patients. It confirms the lateral cephalogram as a basic diagnostic device in the analysis of nasopharyngeal and skeletal growth in cleft patients. PMID:22523495

  16. Complete sternal cleft - A rare congenital malformation and its repair in a 3-month-old boy: A case report.

    PubMed

    Kothari, Paras; Gupta, Abhaya; Patil, Prashant S; Kekre, Geeta; Kamble, Ravi; Dikshit, Kiran Vishesh

    2016-01-01

    Complete midline sternal cleft is a rare congenital anomaly resulting from failed midline ventral fusion of the sternal bars. Very few cases of complete sternal cleft have been described in literature. We present a case of complete sternal cleft in a 3-month-old child. The patient underwent primary closure of the defect using stainless steel wires. PMID:27046980

  17. The Impact of Early Intervention on Speech and Lexical Development for Toddlers with Cleft Palate: A Retrospective Look at Outcome

    ERIC Educational Resources Information Center

    Hardin-Jones, Mary; Chapman, Kathy L.

    2008-01-01

    Purpose: The purpose of the present investigation was to examine the impact of early intervention on speech and lexical measures for toddlers with cleft palate. Method: Speech measures of ten 27-month-old toddlers with cleft palate who had been referred for therapy at 17 months of age were compared to those of 10 toddlers with cleft palate who had…

  18. Maternal and child locus of control and field-dependence in cleft palate children.

    PubMed

    Brantley, H T; Clifford, E

    1979-04-01

    The cleft palate experience includes events which are beyond the control of cleft palate children and their mothers. To investigate whether the experiences relate to other maternal and child variables, 44 cleft palate children, 9--18 years of age, and their mothers were compared to 61 control children and their mothers. Maternal variables included locus of control and perceived reactions to the child's birth. Child variables included locus of control, field dependence, parental perceptions, and teacher ratings. Mothers of children with cleft palates indicated a significantly greater negative impact at their children's births but did not indicate greater externality. Children with clefts were significantly more external in control, were more field-dependent, perceived parental reactions as more negative, and had more negative academic ratings. Mothers who were more external in locus of control had children who were more field-dependent and had more external control. PMID:284868

  19. Nonsyndromic cleft lip and palate: No evidence of linkage to HLA or factor 13A

    SciTech Connect

    Hecht, J.T.; Yaping Wang; Connor, B.; Daiger, S.P. ); Blanton, S.H. Univ. of Virginia, Charlottesville )

    1993-06-01

    Nonsyndromic cleft lip with or without cleft palate (CLP) is a common craniofacial anomaly, the etiology of which is not known. Population studies have shown that a large proportion of cases occur sporadically. Recently, segregation analyses applied to CLP families have demonstrated that an autosomal dominant/codominant gene(s) may cause clefting in cases. Associations of autosomal dominant CLP and nonsyndromic cleft palate (CP) with HLA and F13A genes on chromosome 6p have been suggested previously. Linkage to these two areas on chromosome 6p were tested in 12 autosomal dominant families with CLP. With a LOD score of [minus]2 or less for exclusion, no evidence of linkage was found to four chromosome 6p markers. Multipoint analysis showed no evidence of a clefting locus in this region spanning 54 cM on chromosome 6p in these CLP families. 30 refs., 2 figs., 1 tab.

  20. Study of relationship between clinical factors and velopharyngeal closure in cleft palate patients

    PubMed Central

    Chen, Qi; Zheng, Qian; Shi, Bing; Yin, Heng; Meng, Tian; Zheng, Guang-ning

    2011-01-01

    BACKGROUND: This study was carried out to analyze the relationship between clinical factors and velopharyngeal closure (VPC) in cleft palate patients. METHODS: Chi-square test was used to compare the postoperative velopharyngeal closure rate. Logistic regression model was used to analyze independent variables associated with velopharyngeal closure. RESULTS: Difference of postoperative VPC rate in different cleft types, operative ages and surgical techniques was significant (P=0.000). Results of logistic regression analysis suggested that when operative age was beyond deciduous dentition stage, or cleft palate type was complete, or just had undergone a simple palatoplasty without levator veli palatini retropositioning, patients would suffer a higher velopharyngeal insufficiency rate after primary palatal repair. CONCLUSIONS: Cleft type, operative age and surgical technique were the contributing factors influencing VPC rate after primary palatal repair of cleft palate patients. PMID:22279464

  1. Major Effects on Teratogen-Induced Facial Clefting in Mice Determined by a Single Genetic Region

    PubMed Central

    Karolyi, J.; Erickson, R. P.; Liu, S.; Killewald, L.

    1990-01-01

    A major correlation has been found between the incidence of glucocorticoid-induced cleft palate and the chromosome 8 segment identified by N-acetyl transferase in mice. The resistant strain became fully susceptible while the susceptible strain became resistant when this chromosomal region, representing <0.7% of the genome, was transferred from one strain to the other by the construction of congenic strains. 6-Aminonicotinamide-induced cleft palate and phenytoin-induced cleft lip with or without cleft palate are also influenced by this genetic region but not as strongly. In both cases the susceptible strain became quite resistant to the teratogen-induced clefting when the N-acetyl transferase region of chromosome 8 was transferred. However, this chromosomal region does not make the resistant strain susceptible to these two teratogens. PMID:2227380

  2. Postoperative Speech Outcomes and Complications in Submucous Cleft Palate Patients

    PubMed Central

    Park, Tae Seo; Nam, Su Bong; Kang, Kyung Dong; Sung, Ji Yoon

    2016-01-01

    Background The postoperative speech outcomes of submucous cleft palate (SMCP) surgery are known to be poorer than those of other types of cleft palate. We attempted to objectively characterize the postoperative complications and speech outcomes of the surgical treatment of SMCP through a comparison with the outcomes of incomplete cleft palate (ICP). Methods This study included 53 SMCP patients and 285 ICP patients who underwent surgical repair from 1998 to 2015. The average age of the patients at the time of surgery was 3.9±1.9 years for the SMCP patients and 1.3±0.9 years for the ICP patients. A retrospective analysis was performed of the complications, the frequency of subsequent surgical correction for velopharyngeal dysfunction (VPD), and speech outcomes. Results In both the SMCP and ICP patients, no cases of respiratory difficulty, bleeding, or wound disruption were noted. Delayed wound healing and fistula occurred in 18.9% and 5.7% of the SMCP patients and in 14% and 3.2% of the ICP patients, respectively. However, no statistically significant difference in either delayed wound healing or fistula occurrence was observed between the two groups. The rate of surgical correction for VPD in the SMCP group was higher than in the ICP group. In the subset of 26 SMCP patients and 62 ICP patients who underwent speech evaluation, the median speech score value was 58.8 in the SMCP group and 66 in the ICP group, which was a statistically significant difference. Conclusions SMCP and ICP were found to have similar complication rates, but SMCP had significantly worse speech outcomes. PMID:27218023

  3. [Orofacial closure defects: cleft lip and palate. A literature review].

    PubMed

    Díaz Casado, G H; Díaz Grávalos, G J

    2013-01-01

    Orofacial clefts are a common problem that can lead to significant healthcare use and costs, as well as suffering on the part of the affected individuals and families. There are several theories explaining their origin, but some of the findings are inconsistent. The most accepted theories involve a major genetic basis that could be modified by the presence of external agents. Understanding the underlying causes could help to prevent its occurrence, an area in which the family physician can play an important role. PMID:23834977

  4. Three-dimensional evaluation of unilateral cleft rhinoplasty results.

    PubMed

    Dixon, Tatiana Katharina; Caughlin, Benjamin Patrick; Munaretto, Nicholas; Toriumi, Dean M

    2013-04-01

    Three-dimensional (3D) imaging is a relatively new method of objectively evaluating surgical results, allowing the surgeon to accurately measure postsurgical changes with little inconvenience to the patient. Its accuracy and reliability has been consistently demonstrated in the literature. This article describes updated methods that we use with 3D imaging software to assess rhinoplasty results at our institution. The measurements described include the assessment of symmetry, tip projection, rotation, volume, width, and topographic width. We also apply these techniques to assess the surgical changes of patients with unilateral clefts who underwent secondary rhinoplasty performed by the senior author. PMID:23564242

  5. Fluid-kinetic simulations of the passage of Storm Enhanced Density (SED) plasma flux tubes through the dayside cleft auroral processes region

    NASA Astrophysics Data System (ADS)

    Zeng, W.; Horwitz, J. L.

    2007-12-01

    Foster et al. [2002] and others have reported on elevated ionospheric density regions being convected from the subauroral plasmaspheric region toward noon, in association with convection of plasmaspheric tails in the dayside magnetosphere. It has been suggested that these so-called Storm Enhanced Density (SED) regions could serve as ionospheric plasma source populations for cleft ion fountain outflows. To investigate this scenario, we have used our Dynamic Fluid Kinetic (DyFK) model to simulate the entry of a high-density "plasmasphere-like" flux tube entering the cleft region and subjected to an episode of wave-driven transverse ion heating. We find that the O+ ion density at higher altitudes increases and the density at lower altitudes decreases, following this heating episode, indicating increased numbers of O+ ions from the ionospheric source gain sufficient energy to reach higher altitudes after the effects of transverse wave heating. We also find that O+- H+ crossing point in topside ionosphere moves upward as the wave heating continues. Foster, J. C., P. J. Erickson, A. J. Coster, J. Goldstein, and F. J. Rich, Ionospheric signatures of plasmaspheric tails, Geophys. Res. Lett., 29(13), 1623, doi:10.1029/2002GL015067, 2002.

  6. Functional Analysis of SPECC1L in Craniofacial Development and Oblique Facial Cleft Pathogenesis

    PubMed Central

    Gfrerer, Lisa; Shubinets, Valeriy; Hoyos, Tatiana; Kong, Yawei; Nguyen, Christina; Pietschmann, Peter; Morton, Cynthia C.; Maas, Richard L.; Liao, Eric C.

    2015-01-01

    Background Oblique facial clefts, also known as Tessier clefts, are severe orofacial clefts, the genetic basis of which is poorly understood. Human genetics studies revealed that disruption in SPECC1L resulted in oblique facial clefts, demonstrating that oblique facial cleft malformation has a genetic basis. An important step toward innovation in treatment of oblique facial clefts would be improved understanding of its genetic pathogenesis. The authors exploit the zebrafish model to elucidate the function of SPECC1L by studying its homolog, specc1lb. Methods Gene and protein expression analysis was carried out by reverse-transcriptase polymerase chain reaction and immunohistochemistry staining. Morpholino knockdown, mRNA rescue, lineage tracing and terminal deoxynucleotidyl transferase-mediated dUTP nick end-labeling assays were performed for functional analysis. Results Expression of specc1lb was detected in epithelia juxtaposed to chondrocytes. Knockdown of specc1lb resulted in bilateral clefts between median and lateral elements of the ethmoid plate, structures analogous to the frontonasal process and the paired maxillary processes. Lineage tracing analysis revealed that cranial neural crest cells contributing to the frontonasal prominence failed to integrate with the maxillary prominence populations. Cells contributing to lower jaw structures were able to migrate to their destined pharyngeal segment but failed to converge to form mandibular elements. Conclusions These results demonstrate that specc1lb is required for integration of frontonasal and maxillary elements and convergence of mandibular prominences. The authors confirm the role of SPECC1L in orofacial cleft pathogenesis in the first animal model of Tessier cleft, providing morphogenetic insight into the mechanisms of normal craniofacial development and oblique facial cleft pathogenesis. PMID:25357034

  7. Prediction of liability to orofacial clefting using genetic and craniofacial data from parents.

    PubMed Central

    Mossey, P A; Arngrimsson, R; McColl, J; Vintiner, G M; Connor, J M

    1998-01-01

    BACKGROUND: Cleft lip with or without cleft palate (CL(P)) and isolated cleft palate (CP) are separate clinical entities and for both polygenic multifactorial aetiology has been proposed. Parents of children with orofacial clefting have been shown to have distinctive differences in their facial shape when compared to matched controls. OBJECTIVE: To test the hypothesis that genetic and morphometric factors predispose to orofacial clefting and that these markers differ for CL(P) and CP. Methods-Polymorphisms at the transforming growth factor alpha (TGFalpha) locus in 83 parents of children with nonsyndromic orofacial clefts were analysed, and their craniofacial morphology was assessed using lateral cephalometry. RESULTS: Parents of children with CL(P) and CP showed an increased frequency of the TGFalpha/TaqI C2 allele (RR=4.10, p=0.009) relative to the comparison group. Also the TGFalpha/BamHI A1 allele was more prevalent in the CP parents. MULTIVARIATE STATISTICAL ANALYSIS: Using stepwise logistic regression analysis the TGFalpha/TaqI C2 polymorphism provides the best model for liability to orofacial clefting. To determine the type of clefting a model involving interaction between the parental TGFalpha/BamHI and TGFalpha/RsaI genotypes showed the best fit. Using genotype only to predict the clefting defect in the children according to parental genotype, 68.3% could be correctly classified. By adding information on craniofacial measurements in the parents, 76% of CP and 94% of CL(P) parents could be correctly classified. CONCLUSIONS: This study provides a model for prediction of liability to orofacial clefting. These findings suggest that different molecular aberrations at the TGFalpha locus may modify the risk for CP and CL(P). Images PMID:9610799

  8. Orofacial clefts, parental cigarette smoking, and transforming growth factor-alpha gene variants

    SciTech Connect

    Shaw, G.M.; Wasserman, C.R.; O`Malley, C.D.

    1996-03-01

    Results of studies determine whether women who smoke during early pregnancy are at increased risk of delivering infants with orofacial clefts have been mixed, and recently a gene-environment interaction between maternal smoking, transforming growth factor-alpha (TGFa), and clefting has been reported. Using a large population-based case-control study, we investigated whether parental periconceptional cigarette smoking was associated with an increased risk for having offspring with orofacial clefts. We also investigated the influence of genetic variation of the TGFa locus on the relation between smoking and clefting. Parental smoking information was obtained from telephone interviews with mothers of 731 (84.7% of eligible) orofacial cleft case infants and with mothers of 734 (78.2%) nonmalformed control infants. DNA was obtained from newborn screening blood spots and genotyped for the allelic variants of TGFa. We found that risks associated with maternal smoking were most elevated for isolated cleft lip with or without cleft palate, (odds ratio 2.1 [95% confidence interval 1.3-3.6]) and for isolated cleft palate (odds ratio 2.2 [1.1-4.5]) when mothers smoked {ge} 20 cigarrettes/d. These risks for white infants ranged from 3-fold to 11-fold across phenotypic groups. Paternal smoking was not associated with clefting among the offspring of nonsmoking mothers, and passive smoke exposures were associated with at most slightly increased risks. This study offers evidence that the risk for orofacial clefting in infants may be influenced by maternal smoke exposures alone as well as in combination (gene-environment interaction) with the presence of the uncommon TGFa allele. 56 refs., 5 tabs.

  9. Variation in WNT genes is associated with non-syndromic cleft lip with or without cleft palate

    PubMed Central

    Chiquet, Brett T.; Blanton, Susan H.; Burt, Amber; Ma, Deqiong; Stal, Samuel; Mulliken, John B.; Hecht, Jacqueline T.

    2008-01-01

    Non-syndromic cleft lip with or without cleft palate (NSCLP) is a common birth defect. Genetic and environmental factors have been causally implicated and studies have begun to delineate genetic contributions. The Wnt genes are involved in regulating mid-face development and upper lip fusion and are therefore strong candidates for an etiological role in NSCLP. Furthermore, the clf1 region in A/WyN clefting susceptible mice contains the Wnt3 and Wnt9B genes. To assess the role of the Wnt family of genes in NSCLP, we interrogated seven Wnt genes (Wnt3, Wnt3A, Wnt5A, Wnt7A, Wnt8A, Wnt9B and Wnt11) in our well-defined NSCLP dataset. Thirty-eight single nucleotide polymorphisms were genotyped in 132 multiplex NSCLP families and 354 simplex parent–child trios. In the entire dataset, single-nucleotide polymorphisms (SNPs) in three genes, Wnt3A (P = 0.006), Wnt 5A (P = 0.002) and Wnt11 (P = 0.0001) were significantly associated with NSCLP after correction for multiple testing. When stratified by ethnicity, the strongest associations were found for SNPs in Wnt3A (P = 0.0007), Wnt11 (P = 0.0012) and Wnt8A (P = 0.0013). Multiple haplotypes in Wnt genes were associated with NSCLP, and gene–gene interactions were observed between Wnt3A and both Wnt3 and Wnt5A (P = 0.004 and P = 0.039, respectively). This data suggests that alteration in Wnt gene function may perturb formation and/or fusion of the facial processes and predispose to NSCLP. PMID:18413325

  10. Variation in WNT genes is associated with non-syndromic cleft lip with or without cleft palate.

    PubMed

    Chiquet, Brett T; Blanton, Susan H; Burt, Amber; Ma, Deqiong; Stal, Samuel; Mulliken, John B; Hecht, Jacqueline T

    2008-07-15

    Non-syndromic cleft lip with or without cleft palate (NSCLP) is a common birth defect. Genetic and environmental factors have been causally implicated and studies have begun to delineate genetic contributions. The Wnt genes are involved in regulating mid-face development and upper lip fusion and are therefore strong candidates for an etiological role in NSCLP. Furthermore, the clf1 region in A/WyN clefting susceptible mice contains the Wnt3 and Wnt9B genes. To assess the role of the Wnt family of genes in NSCLP, we interrogated seven Wnt genes (Wnt3, Wnt3A, Wnt5A, Wnt7A, Wnt8A, Wnt9B and Wnt11) in our well-defined NSCLP dataset. Thirty-eight single nucleotide polymorphisms were genotyped in 132 multiplex NSCLP families and 354 simplex parent-child trios. In the entire dataset, single-nucleotide polymorphisms (SNPs) in three genes, Wnt3A (P = 0.006), Wnt 5A (P = 0.002) and Wnt11 (P = 0.0001) were significantly associated with NSCLP after correction for multiple testing. When stratified by ethnicity, the strongest associations were found for SNPs in Wnt3A (P = 0.0007), Wnt11 (P = 0.0012) and Wnt8A (P = 0.0013). Multiple haplotypes in Wnt genes were associated with NSCLP, and gene-gene interactions were observed between Wnt3A and both Wnt3 and Wnt5A (P = 0.004 and P = 0.039, respectively). This data suggests that alteration in Wnt gene function may perturb formation and/or fusion of the facial processes and predispose to NSCLP. PMID:18413325

  11. Prenatal Counseling, Ultrasound Diagnosis, and the Role of Maternal-Fetal Medicine of the Cleft Lip and Palate Patient.

    PubMed

    James, Jeffrey N; Schlieder, Daniel W

    2016-05-01

    A multidisciplinary team is the standard of care and the cornerstone of management of cleft patients. With readily improving advanced diagnostic modalities, early prenatal diagnosis of cleft lip and palate increasingly becomes a topic of importance for both the team caring for and families of cleft patients. Maternal-fetal medicine is a fellowship subspecialty of obstetrics that can offer high-quality care and coordination to the cleft team. Both 3-D and 4-D sonography lead to early prenatal diagnosis of cleft patients; however, differences in training result in variations in its diagnostic accuracy. PMID:26928557

  12. Facial morphometrics of children with NON-syndromic orofacial clefts in Tanzania

    PubMed Central

    2014-01-01

    Background Orofacial clefts (cleft lip/palate; CL/P) are among the most common congenital anomalies, with prevalence that varies among different ethnic groups. Craniofacial shape differences between individuals with CL/P and healthy controls have been widely reported in non-African populations. Knowledge of craniofacial shape among individuals with non-syndromic CL/P in African populations will provide further understanding of the ethnic and phenotypic variation present in non-syndromic orofacial clefts. Methods A descriptive cross-sectional study was carried out at Bugando Medical Centre, Tanzania, comparing individuals with unrepaired non-syndromic CL/P and normal individuals without orofacial clefts. Three-dimensional (3D) facial surfaces were captured using a non-invasive 3D camera. The corresponding 3D coordinates for 26 soft tissue landmarks were used to characterize facial shape. Facial shape variation within and between groups, based on Procrustes superimposed data, was studied using geometric morphometric methods. Results Facial shape of children with cleft lip differed significantly from the control group, beyond the cleft itself. The CL/P group exhibited increased nasal and mouth width, increased interorbital distance, and more prognathic premaxillary region. Within the CL/P group, PCA showed that facial shape variation is associated with facial height, nasal cavity width, interorbital distance and midfacial prognathism. The isolated cleft lip (CL) and combined cleft lip and palate (CLP) groups did not differ significantly from one another (Procrustes distance = 0.0416, p = 0.50). Procrustes distance permutation tests within the CL/P group showed a significant shape difference between unilateral clefts and bilateral clefts (Procrustes distance = 0.0728, p = 0.0001). Our findings indicate the morphological variation is similar to those of studies of CL/P patients and their unaffected close relatives in non-African populations. Conclusion

  13. Oblique facial clefts in Johanson-Blizzard syndrome.

    PubMed

    Corona-Rivera, Jorge Román; Zapata-Aldana, Eugenio; Bobadilla-Morales, Lucina; Corona-Rivera, Alfredo; Peña-Padilla, Christian; Solis-Hernández, Elizabeth; Guzmán, Celina; Richmond, Erick; Zahl, Christian; Zenker, Martin; Sukalo, Maja

    2016-06-01

    Johanson-Blizzard syndrome (JBS) is considered as an infrequent, but clinically easily recognizable autosomal recessive entity by the pathognomonic combination of congenital exocrine pancreatic insufficiency and hypoplastic alae nasi, in addition to other distinctive findings such as scalp defects, hypothyroidism, and rectourogenital malformations. There are few reports of patients with JBS in association with facial clefting, referring all to types 2 to 6 of Tessier's classification that can be characterized properly as oblique facial clefts (OFCs). We describe the clinical aspects in four patients with JBS and extensive OFCs. In all of them, the diagnosis of JBS was confirmed by the demonstration of homozygous or compound-heterozygous mutations in the UBR1 gene. Additionally, we review three previously reported cases of JBS with OFCs. Taking into account a number of approximately 100 individuals affected by JBS that have been published in the literature we estimate that the frequency of OFCs in JBS is between 5% and 10%. This report emphasizes that extensive OFCs may be the severe end of the spectrum of facial malformations occurring in JBS. No obvious genotype phenotype correlation could be identified within this cohort. Thus, UBR1 should be included within the list of contributory genes of OFCs, although the exact mechanism remains unknown. © 2016 Wiley Periodicals, Inc. PMID:26989884

  14. [Presentation of a flap web space laterodigital in cleft foot].

    PubMed

    Szwebel, J; Haddad, R; Mitrofanoff, M

    2012-08-01

    Cleft foot deformity is characterized by the absence of one or more median rays of the foot. This rare polymorphous congenital anomaly occurs more frequently in males, with a frequent autosomal dominant type of transmission. The purpose of surgical treatment is to narrow the width of the foot, but also to improve its global aesthetic look. Toe reparation, and more specifically web space reconstruction, provide the main technical challenges. We present an adaptation to the foot of a laterodigital cutaneous flap published by Barsky in 1964 for commissural reconstruction in cleft hand syndroms. The anatomical structure of fingers and toes commisures being different, this flap seems more adapted to the surgery of the foot. We gathered seven patients' files treated for ectrodactyly of the foot with this technique by the same surgeon from 2005 to 2008. No particular postoperative complications were noted, and the patients all expressed their satisfaction regarding the improvement of the appearance of their foot. We recommend to add the use of this flap in the "tool box" of the surgeon in charge of the management of foot deformities. PMID:20947236

  15. Middle ear cleft in chronic otitis media: a clinicohistopathological study.

    PubMed

    Sharma, Karan; Manjari, Mridu; Salaria, Neha

    2013-12-01

    Chronic mucosal diseases of middle ear cleft or chronic suppurative otitis media has been traditionally defined as a chronic inflammation of the middle ear and mastoid usually associated with perforation of the tympanic membrane and otorrhoea. Understanding the pathology and pathogenesis of chronic suppurative otitis media is important in predicting the management, prognosis and sequelae of the disease. The present prospective study was conducted to evaluate the clinical, intraoperative and histopathological changes in middle ear cleft. 100 patients diagnosed with CSOM who underwent surgery were taken. The mucosa and granulation tissue was removed along with ossicles wherever indicated and sent for histopathological examination. On clinical examination, 72 cases were found to be of tubotympanic type and 28 cases of atticoantral variety. However, intraoperatively, of the tubotympanic cases 8 were found to be of unsafe type which was also proven histologically. Stratified squamous epithelium was revealed in most of the cases accompanied by changes in the submucosa. Ossicular chain was involved in 40 cases with incus being the commonest bone to be eroded. PMID:24427703

  16. Midline Cervical Cleft: Review of an Uncommon Entity

    PubMed Central

    Puscas, Liana

    2015-01-01

    Introduction. Midline cervical cleft is a rare congenital malformation which nonetheless has a classic presentation. This study presents one of the largest single series of new patients with MCC and provides an exhaustive review and catalogue of publications from the international literature. Materials and Methods. Retrospective chart review performed in two academic medical centers and literature review performed with primary verification of all quoted references. Results. Ten patients with MCC were identified (8 boys and 2 girls). All patients presented with the classic findings of this congenital anomaly, and the length of the skin defect correlated with an increase in the patient's age. Surgical excision was complete in all cases. Thorough international literature review yielded only 195 verifiable previously reported cases. Conclusions. This is one of the largest series of new patients with midline cervical cleft presented in the world literature. Although rare (with less than 200 cases published to date) this entity does have a reliable presentation that should lead to rapid and accurate diagnosis. Complete surgical excision at an early age is appropriate since the anomaly increases in length commensurate with the patient's age. PMID:25983756

  17. "Three-unit" muscle reconstruction in secondary cleft lip repair.

    PubMed

    Fan, Qi; Li, Yu; Danning, Zheng; Zhang, Bo; Chen, Siqi; Wang, Jian

    2015-01-01

    Background :  Secondary deformities are common in people born with unilateral cleft lip and palate. In recent years, more and more attempts and efforts have been directed toward muscle reconstruction. The authors present a new method of orbicularis oris repair in correction of secondary cleft lip deformities. Methods :  From April 2009 to April 2013, a total of 28 patients underwent this procedure in the authors' department and had a follow-up with a minimum length of 1 year. Muscle reconstruction was divided into three units that deal with the nasal floor, white lip, and red lip. Common anatomical pathologies including a deviated columella, blunted alar-facial groove, lack of philtral column, "free border" deficiency, and unapparent vermilion tubercle can be corrected in a single operation. Results :  The average follow-up period was 14.6 months (range, 12 to 24 months). Contractubex gel (Merz Pharma, Frankfurt, Germany) was used to treat prominent or reddish scars in 16 patients. No major complications occurred. All the patients were satisfied with their nasolabial appearance. Conclusions :  "Three-unit" muscle repair was found to be effective and practical in secondary repair. Improved aesthetic and functional results can be achieved with this comprehensive procedure. PMID:24443976

  18. A Co-Investigator Project for the Cornell University Cleft Accelerated Plasma Experimental Rocket-CAPER

    NASA Technical Reports Server (NTRS)

    Deehr, Charles S.

    1999-01-01

    The CAPER rocket campaign was to follow the SCIFER experiment as a detailed study of the ion acceleration processes in the Cleft Ion Fountain (CIF) above 1000 km altitude. The SCIFER rocket demonstrated that the experiment was feasible and that the CIF acceleration processes on the dayside are different from those observed in the discrete aurora on the nightside. The responsibility of the GI/UAF co-investigator project was to provide the real-time acquisition and display of large-and small-scale ground observations, and satellite solar wind data at the launch control center at Longyearbyen, Svalbard for the determination of the launch conditions and the later interpretation of the rocket observations. The rocket campaign was proposed for January of 1998, but was slipped to January of 1999. The rocket was launched on January 21, 1999 at 06 h 13 m 30 s UT. All of the GI/UAF co-investigator systems functioned well, except the narrow-field TV camera which was to follow the 140 km conjugate of the payload on command from GPS tracking data sent from Andoya. The data were not available during the flight, and the camera tracked the nominal conjugate. Unfortunately, the trajectory was well west of nominal, so no useful narrow-field conjugate data were acquired . In addition, the payload missed the region of more intense precipitation, brighter aurora, stronger currents, and likely large fluxes of transverse ion acceleration. On the other hand, good data were acquired across a region of the ionosphere that appears to have had a double convection boundary because of the IMF switching its z component shortly before launch. These data are important for understanding the reaction of the magnetosphere and ionosphere to changes in the IMF.

  19. Coping With Cleft: A Conceptual Framework of Caregiver Responses to Nasoalveolar Molding

    PubMed Central

    Sischo, Lacey; Broder, Hillary L.; Phillips, Ceib

    2014-01-01

    Objective To present a conceptual framework of caregiver coping and adaptation to early cleft care using nasoalveolar molding. Design In-depth interviews were conducted at three time points with caregivers of infants with cleft lip or cleft lip and palate whose children had nasoalveolar molding to treat their cleft. Qualitative data were analyzed using modified grounded theory. Results Most caregivers expressed initial apprehension and anxiety about the responsibilities of care associated with nasoalveolar molding (e.g., changing and positioning tapes, cleaning the appliance). In subsequent interviews, caregivers often reported positive feelings related to their active participation in their child’s treatment for cleft. These positive feelings were associated with increased self-esteem and feelings of empowerment for the caregivers. Although caregivers also identified burdens associated with nasoalveolar molding (e.g., stress related to lip taping, concerns about the appliance causing sores in their child’s mouth, travel to weekly appointments), they tended to minimize the impact of these issues in comparison with the perceived benefits of nasoalveolar molding. Conclusions Despite the increased burden of care, many caregivers of infants with cleft used nasoalveolar molding as a problem-focused coping strategy to deal with their child’s cleft. Completing nasoalveolar molding was often associated with positive factors such as increased empowerment, self-esteem, and bonding with their infant. PMID:25225840

  20. Bone grafting, corticotomy, and orthodontics: treatment of cleft alveolus in a chinese cohort.

    PubMed

    Mao, Li-Xia; Shen, Guo-Fang; Fang, Bing; Xia, Yun-Hui; Ma, Xu-Hui; Wang, Bo

    2013-11-01

    Objective : A multimodal therapy was applied to solve a set of related problems including collapse of the posterior segment, high level gingival margin of canine, and resorption of grafted bone in a cohort of Chinese youngsters with cleft lip and palate. This study aimed to evaluate the benefits of this treatment procedure. Methods : Thirty patients with unilateral cleft lip and palate were included in this prospective study. All patients had previously undergone only cleft lip and palate repair and presented with alveolar cleft and an obvious step in the gingival margin between the canine tooth and the teeth beside it. A multimodal therapy that included bone grafting, corticotomy, and orthodontics was applied to solve these problems. Grafted bone volume, parallelism of the roots, root resorption, gingival margin, and mobility of the canine on the cleft side were established before surgery, 1 week after surgery, and after straightening of the canine. Results : Less than 25% of the grafted bone was reabsorbed in 25 of the 30 patients, while less than 50% was resorbed in the remaining five. The roots of the canines on the cleft side were mostly parallel to the adjacent teeth. Root resorption and mobility of the canines were slight. The difference in the gingival margin between the canines on the cleft side and the other side was small. Conclusions : Canines moved into the grafted bone safely and effectively, thus achieving a normal gingival margin and retaining grafted bone volume in one operation. PMID:22849663

  1. Communication disorders in individuals with cleft lip and palate: An overview

    PubMed Central

    Nagarajan, Roopa; Savitha, V. H.; Subramaniyan, B.

    2009-01-01

    The need for an interdisciplinary approach in the comprehensive management of individuals with cleft lip and palate is well recognized. This article provides an introduction to communication disorders in individuals with cleft lip and palate for members of cleft care teams. The speech pathologist is involved in identifying those infants who are at risk for communication disorders and also for initiating early intervention to prevent or mitigate communication disorders caused by the cleft. Even with early cleft repair, some children exhibit ‘cleft palate speech’ characterized by atypical consonant productions, abnormal nasal resonance, abnormal nasal airflow, altered laryngeal voice quality, and nasal or facial grimaces. These manifestations are evaluated to identify those that (a) are developmental, (b) can be corrected through speech therapy alone, and, (c) those that may require both surgery and speech therapy. Speech is evaluated perceptually using several types of stimuli. It is important to identify compensatory and obligatory errors in articulation. When velopharyngeal dysfunction is suspected, the assessment should include at least one direct measure such as nasoendoscopy or videofluoroscopy. This provides information about the adequacy of the velopharyngeal valve for speech production, and is useful for planning further management of velopharyngeal dysfunction. The basic principle of speech therapy in cleft lip and palate is to establish the correct placement of the articulators and appropriate air flow. Appropriate feedback is important during therapy for establishing the correct patterns of speech. PMID:19884669

  2. Dual embryonic origin of maxillary lateral incisors: clinical implications in patients with cleft lip and palate

    PubMed Central

    Garib, Daniela Gamba; Rosar, Julia Petruccelli; Sathler, Renata; Ozawa, Terumi Okada

    2015-01-01

    Introduction: Cleft lip and palate are craniofacial anomalies highly prevalent in the overall population. In oral clefts involving the alveolar ridge, variations of number, shape, size and position are observed in maxillary lateral incisors. The objective of this manuscript is to elucidate the embryonic origin of maxillary lateral incisors in order to understand the etiology of these variations. Contextualization: The hypothesis that orofacial clefts would split maxillary lateral incisor buds has been previously reported. However, recent studies showed that maxillary lateral incisors have dual embryonic origin, being partially formed by both the medial nasal process and the maxillary process. In other words, the mesial half of the lateral incisor seems to come from the medial nasal process while the distal half of the lateral incisor originates from the maxillary process. In cleft patients, these processes do not fuse, which results in different numerical and positional patterns for lateral incisors relating to the alveolar cleft. In addition to these considerations, this study proposes a nomenclature for maxillary lateral incisors in patients with cleft lip and palate, based on embryology and lateral incisors position in relation to the alveolar cleft. Conclusion: Embryological knowledge on the dual origin of maxillary lateral incisors and the use of a proper nomenclature for their numerical and positional variations renders appropriate communication among professionals and treatment planning easier, in addition to standardizing research analysis. PMID:26560830

  3. Environmental factors related to the occurrence of oral clefts in a Brazilian subpopulation

    PubMed Central

    Campos Neves, Ana Thereza de Saboia; Volpato, Luiz Evaristo Ricci; Espinosa, Mariano Martinez; Aranha, Andreza Maria Fabio; Borges, Alvaro Henrique

    2016-01-01

    Background: A cross-sectional study was conducted at the Craniofacial Rehabilitation Center in the General Hospital of the University of Cuiabá, Cuiabá city, Mato Grosso, Brazil. Materials and Methods: Poisson regression model was used to analyze the relationship between antenatal factors and the occurrence of oral clefts in 116 patients. Results: Oral clefts were more common in males (64.66%) and White race (46.02%). The mean age of the children was 21.91 months. The most common type of cleft was cleft lip and palate (CLP, 55.17%). Maternal and paternal smoking in the first trimester of pregnancy and parity were significantly associated with the occurrence of CLP. Parent's age, educational level, and occupation did not interfere in the occurrence of oral clefts. There was also no significant association between maternal illness, medication use, alcohol consumption, and maternal exposure to chemicals in the first trimester of pregnancy and the occurrence of clefts in this population. Conclusion: The analysis of the environmental factors present during the pregnancy of children with oral clefts revealed a significant association between parity (second onward), maternal smoking, and paternal smoking and the occurrence of CL and/or palate in this population. PMID:27397957

  4. Observations of the Earth's polar cleft at large radial distances with the Hawkeye 1 magnetometer

    SciTech Connect

    Farrell, W.M.; Van Allen, J.A.

    1990-12-01

    Based on 364 spacecraft passes through the dayside region, the position of the polar cleft at large radial distances was determined with the magnetometer flown on Hawkeye 1. This data set represents one of the largest to investigate the high-latitude region at large radial distances, making it ideal for study of the cusp and cleft region. Identification of the cleft depended on noting strong negative deviations of the magnetic field strength in the region from that of the dipole field. In solar magnetic coordinates, cleft observations were found between 40 deg and 70 deg lat. and + or - 75 deg long., while in geocentric magnetospheric coordinates, these observations were found between 20 deg and 75 deg lat. and + or - 75 deg long. The extreme longitudinal extent of 150 deg is larger than those reported in some previous studies. Large magnetic depressions associated with the cleft extend out to 12 earth radii. Beyond this point, low model dipole field strengths make the determination of the cleft based on magnetic depressions unreliable. The cleft occurrences fall within an oval in magnetic latitude and longitude, but this oval is of a statistical nature and cannot be interpreted as the shape of the region at a given moment. (edc)

  5. The Effect of Cleft Palate Repair on Contractile Properties of Single Permeabilized Muscle Fibers From Congenitally Cleft Goat Palates

    PubMed Central

    Hanes, Michael C.; Weinzweig, Jeffrey; Panter, Kip E.; McClellan, W. Thomas; Caterson, Stefanie A.; Buchman, Steven R.; Faulkner, John A.; Yu, Deborah; Cederna, Paul S.; Larkin, Lisa M.

    2009-01-01

    Inherent differences in the levator veli palatini (LVP) muscle of cleft palates before palatoplasty may play a role in persistent postrepair velopharyngeal insufficiency (VPI). Contractile properties of LVP muscle fibers were analyzed from young (2-month) normal (YNP), young congenitally cleft (YCP) and again on the same YCP subjects 6 months after palatoplasty, mature repaired palate (MRP). The cross-sectional area and rate of force development (ktr) were measured. Specific force (sF0) and normalized power (nPmax) were calculated. Using ktr to determine fiber type composition, YNP was 44% type 1 and 56% type 2, while YCP was 100% type 2. Two MRP subjects shifted to 100% type 1; 1 demonstrated increased resistance to fatigue. No differences in sF0 were observed. nPmax increased with presence of type 2 fibers. The persistent state of type 2 fibers following palatoplasty leads to increased fatigue in the LVP of MRP subjects and may cause VPI symptoms. PMID:18216514

  6. Genome-wide association study identifies a new susceptibility locus for cleft lip with or without a cleft palate.

    PubMed

    Sun, Yimin; Huang, Yongqing; Yin, Aihua; Pan, Yongchu; Wang, Yirui; Wang, Cheng; Du, Yong; Wang, Meilin; Lan, Feifei; Hu, Zhibin; Wang, Guoqing; Jiang, Min; Ma, Junqing; Zhang, Xiaozhuang; Ma, Hongxia; Ma, Jian; Zhang, Weibing; Huang, Qun; Zhou, Zhongwei; Ma, Lan; Li, Yadi; Jiang, Hongbing; Xie, Lan; Jiang, Yuyang; Shi, Bing; Cheng, Jing; Shen, Hongbing; Wang, Lin; Yang, Yinxue

    2015-01-01

    Nonsyndromic cleft lip with or without a cleft palate (NSCL/P) is among the most common human congenital birth defects and imposes a substantial physical and financial burden on affected individuals. Here, we conduct a case-control-based GWAS followed by two rounds of replication; we include six independent cohorts from China to elucidate the genetic architecture of NSCL/P in Chinese populations. Using this combined analysis, we identify a new locus at 16p13.3 associated with NSCL/P: rs8049367 between CREBBP and ADCY9 (odds ratio=0.74, P=8.98 × 10(-12)). We confirm that the reported loci at 1q32.2, 10q25.3, 17p13.1 and 20q12 are also involved in NSCL/P development in Chinese populations. Our results provide additional evidence that the rs2235371-related haplotype at 1q32.2 could play a more important role than the previously identified causal variant rs642961 in Chinese populations. These findings provide information on the genetic basis and mechanisms of NSCL/P. PMID:25775280

  7. SATB2 gene variants in non-syndromic cleft lip with or without cleft palate in Indian population

    PubMed Central

    Gurramkonda, Venkatesh Babu; Syed, Altaf Hussain; Murthy, Jyotsna; Lakkakula, Bhaskar V.K.S.

    2015-01-01

    Objectives Non-syndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common craniofacial birth defects and little is known about its aetiology. Initial studies of cytogenetic analysis provided the clues for possible genes involved in the pathogenesis of NSCL/P. This approach led to the identification of SATB2 gene on 2q32-q33. The aim of this study was to determine the association between SATB2 mutations and NSCL/P. Materials and methods The rs137853127, rs200074373 and rs1992950 mutations of the SATB2 gene were investigated in 173 patients with NSCL/P and 176 normal controls using Kbioscience KASPar chemistry, which is a competitive allele-specific PCR SNP genotyping system. Results The mutations in exon 6 (rs137853127 and rs200074373) were monomorphic, the intronic variant (rs1992950) was polymorphic and genotype distribution was in agreement with Hardy–Weinberg equilibrium. The rs1992950 genotype distribution is not statistically significant between NSCL/P and controls. Conclusion Our findings suggest that the SATB2 gene variations do not contribute to the development of NSCL/P in the south Indian population. PMID:26605140

  8. Nonsyndromic cleft lip with or without cleft palate: Evidence of linkage to BCL3 in 17 multigenerational families

    SciTech Connect

    Stein, J.; Hecht, T.; Stal, S.

    1995-08-01

    Nonsyndromic cleft lip with or without cleft palate (CL/P) is a common craniofacial developmental defect. Recent segregation analyses have suggested that major genes play a role in the etiology of CL/P. Linkage to 22 candidate genes was tested in 11 multigenerational families with CL/P, and 21 of these candidates were excluded. APOC2, 19q13.1, which is linked to the proto-oncogene BCL3, gave suggestive evidence for linkage to CL/P. The study was expanded to include a total of 39 multigenerational CL/P families. Linkage was tested in all families, using anonymous marker, D19S178, and intragenic markers in BCL3 and APOC2. Linkage was tested under two models, autosomal dominant with reduced penetrance and affecteds-only model. Both models showed evidence of heterogeneity, with 43% of families linked at zero recombination to BCL3 when marker data from BCL3 and APOC2 were included. A maximum multipoint LOD score of 7.00 at BCL3 was found among the 17 families that had posterior probabilities {ge}50% in favor of linkage. The transmission disequilibrium test provided additional evidence for linkage with the 3 allele of BCL3 more often transmitted to affected children. These results suggest that BCL3, or a nearby gene, plays a role in the etiology of CL/P in some families. 39 refs., 8 figs., 4 tabs.

  9. The evaluation and surgical management of cyclodialysis clefts that have failed to respond to conservative management

    PubMed Central

    Ioannidis, Alexander S; Bunce, Catey; Barton, Keith

    2014-01-01

    Purpose To investigate factors that may influence successful correction of hypotony in a consecutive series of patients with cyclodialysis clefts repaired surgically over a 10-year period. Design Retrospective interventional case series. Methods Interventional case series of consecutive patients with cyclodialysis clefts and hypotony treated surgically after failure of conservative treatment. Results Eighteen patients (18 eyes) of mean (SD) age 48.3 (15.8) years at the time of surgery were included (16 male, 2 female). All were diagnosed using gonioscopy, usually assisted with intracameral viscoelastic injection. Imaging used in three cases was not found to be sufficiently precise to plan surgical intervention, without prior gonioscopic cleft visualisation. The intraocular pressure (IOP) was restored in nine cases (50%) after one procedure with a postoperative IOP (mean±SD) of 13.6±4.5 mm Hg (6/11 who had cyclopexy as a first procedure and 3/6 who had cryopexy). 2–3 procedures were required in the remaining nine patients. There was a trend towards the use of cyclopexy for larger clefts and cryopexy for smaller clefts (NS). We observed a trend for a lower likelihood of successful closure of larger clefts after one intervention. Two eyes that had cyclopexy required later IOP-lowering surgery to achieve IOP control. Conclusions Most clefts were closed with one procedure. A trend towards larger cleft size as a preoperative risk factor for failure to achieve closure with one procedure was observed. In this series, imaging was not found to be sufficiently precise to replace viscoelastic-assisted gonioscopy in the diagnosis and evaluation of cyclodialysis clefts. PMID:24457370

  10. A Genome Wide Linkage Scan for Cleft Lip and Palate and Dental Anomalies

    PubMed Central

    Vieira, Alexandre R.; McHenry, Toby G.; Daack-Hirsch, Sandra; Murray, Jeffrey C.; Marazita, Mary L.

    2008-01-01

    We revisited 46 families with two or more siblings affected with an orofacial cleft that participated in previous genome wide studies and collected complete dental information. Genotypes from 392 microsatellite markers at 10 cM intervals were reanalyzed. We carried out four sets of genome wide analyses. First, we ran the analysis solely on the cleft status. Second, we assigned to any dental anomaly (tooth agenesis, supernumerary teeth, and microdontia) an affection status, and repeated the analysis. Third, we ran only the 19 families where the proband had a cleft with no dental anomalies. Finally, we ran only the 27 families that had a proband with cleft and additional dental anomalies outside the cleft area. Chromosomes (1, 2, 6, 8, 16, and 19) presented regions with LOD scores >2.0. Chromosome 19 has the most compelling results in our study. The LOD scores increased from 3.11 (in the scan of all 46 families with clefts as the only assigned affection status) to 3.91 when the 19 families whose probands present with no additional dental anomalies were studied, suggesting the interval 19p13.12-19q12 may contain a gene that contributes to clefts but not to dental anomalies. On the other hand, we found a LOD score of 3.00 in the 2q22.3 region when dental anomalies data were added to the analysis to define affection status. Our preliminary results support the hypothesis that some loci may contribute to both clefts and congenital dental anomalies. Also, adding dental anomalies information will provide new opportunities to map susceptibility loci for clefts. PMID:18442096

  11. Observations of the Earth's polar cleft at large radial distances with the Hawkeye 1 magnetometer

    SciTech Connect

    Farrell, W.M.; Van Allen, J.A. )

    1990-12-01

    Based on 364-spacecraft passes through the dayside region, the position of the polar cleft at large redial distances was determined with the magnetometer flown on Hawkeye 1. This data set represents one of the largest to investigate the high-latitude region at large radial distances, making it ideal for the study of the cusp and cleft region. Identification of the cleft depended on noting strong negative deviations of the magnetic field strength in the region from that of the dipole field. In solar magnetic coordinates, cleft observations were found between 40{degree} and 70{degree} latitude and {plus minus}75{degree} longitude, while in geocentric magnetospheric coordinates, these observations were found between 20{degree} and 75{degree} latitude and {plus minus} 75{degree} longitude. The extreme longitudinal extent of 150{degree} is larger than those reported in some previous studies. Large magnetic depressions associated with the cleft extend out to 12 R{sub E}. Beyond this point, low model dipole field strengths make the determination of the cleft based on magnetic depressions unreliable. The cleft occurrences fall within an oval in magnetic latitude and longitude, but this oval is of a statistical nature and cannot be interpreted as the shape of the region at a given moment. As reported in other studies, the cleft was observed to shift to lower latitudes as compared to its quiet time geometry during periods when Kp was large and when the interplanetary magnetic field (IMF) pointed in a southerly direction. A southerly shift was also observed when th solar wind bulk flow speed, V{sub sw}, was large (>450 km/s), and the region might have enlarged when solar wind pressure, P{sub sw}, was large. The variation of the cleft latitude with V{sub sw} and P{sub sw} has not been thoroughly examined in previous studies.

  12. TGF-alpha genotypes, oral clefts, and environmental risk factors: A population-based California study

    SciTech Connect

    Shaw, G.M.; Wasserman, C.R.; Lammer, E.J.

    1994-09-01

    Several studies have shown a relation between genetic variation at the TGF-alpha locus and oral clefts. These studies had limited sample sizes and also lacked data on additional factors potentially related to clefting. We investigated the influence on clefting from risk factors, such as maternal smoking, dependent on TFG-alpha genotype. This was accomplished using a large population-bases case-control study of fetuses and liveborn infants with oral clefts among a 1987-89 cohort of California births (N=548,844). To obtain data on potential risk factors, telephone interviews were conducted with mothers of 731 (84.5% of eligible) cleft cases, and 734 (78.2%) nonmalformed controls. DNA was obtained from newborn screening bloodspots and genotyped by using SSCP designed to detect the Taq1 RFLP. Among mothers who completed an interview, genotyping results were available for 571 (78.1%) cases and 640 (87.2%) controls. Compared to controls, the risk estimate for TGF-alpha polymorphism as measured by the odds ratio was: 0.99 (95% confidence interval 0.64, 1.5) for isolated cleft lip {plus_minus}palate; 0.88 (0.33, 2.2) for nonisolated cleft lip {plus_minus}palate; 1.6 (0.94, 2.8) for isolated cleft palate; 1.9 (0.82, 4.3) for nonisolated cleft palate; and 2.2 (0.99, 5.0) for clefts with known etiology. This dataset also revealed 1.4 to 2-fold increased risks for maternal cigarette smoking > 19 cigs/day in early pregnancy. Among these heavy smokers, risk of clefting was even more increased for infants with the TGF-alpha polymorphism. Our data suggest an association between the TGF-alpha uncommon allele and some phenotypic subgroups as well as provide evidence for a genetic-environment interaction between maternal smoking and the variant in the etiology of clefting. The fraction of cases possibly attributed to this interaction, however, was small.

  13. The Coexistence of Rathke Cleft Cyst and Pituitary Adenoma.

    PubMed

    Gao, Mingtong; An, Yanyan; Huang, Zhihong; Niu, Jianyi; Yuan, Xunhui; Bai, Yun'an; Guo, Liemei

    2016-03-01

    Both of Pituitary adenoma (PA) and Rathke cleft cyst (RCC) are the most common and benign sellar lesions. Generally, the origin of RCC is considered to be derived from remnants of Rathke punch, while PA is formed by proliferation of the anterior wall of Rathke pouch. Although they have a possibility to share a common embryological origin, the coexistence of PA and RCC is extremely rare. Here, the authors report a 50-year-old male patient who was found to have a large cystic sellar lesion, and surgical resection revealed components of a RCC coexisting with a PA. This collision reminded us of the possibility of RCC coexisting with PA. Furthermore, a clinicopathologic relation of them were reviewed and investigated. PMID:26845092

  14. TCDD disrupts posterior palatogenesis and causes cleft palate.

    PubMed

    Yamada, Tomohiro; Hirata, Azumi; Sasabe, Eri; Yoshimura, Tomohide; Ohno, Seiji; Kitamura, Naoya; Yamamoto, Tetsuya

    2014-01-01

    Dioxins (e.g. 2,3,7,8-tetrachlorodibenzo-p-dioxin; TCDD) cause cleft palate at a high rate. A post-fusional split may contribute to the pathogenesis, and tissue fragility may be a concern. The objective of this study was to investigate the effects of TCDD on the palatal epithelium, bone and muscle, which contribute to tissue integrity. ICR mice (10-12 weeks old) were used. TCDD was administered on E12.5 at 40 mg/kg. Immunohistochemical staining for AhR, ER-α, laminin, collagen IV, osteopontin, Runx2, MyoD, and desmin were performed. Furthermore, western blot analysis for osteopontin, Runx2, MyoD, and desmin were performed to evaluate protein expression in the palatal tissue. Immunohistologically, there was little difference in the collagen IV and laminin localization in the palatal epithelium between control versus TCDD-treated mice. Runx2 and osteopontin immunoreactivity decreased in the TCDD-treated palatal bone, and MyoD and desmin decreased in the TCDD-treated palatal muscle. AhR and ER-α immunoreactivity were localized to the normal palatal bone, but ER-α was diminished in the TCDD-treated palate. On western blot analysis, Runx2, MyoD, and desmin were all downregulated in the TCDD-treated palate. TCDD may suppress palatal osteogenesis and myogenesis via AhR, and cause cleft palates via a post-fusional split mechanism, in addition to a failure of palatal fusion. PMID:23602632

  15. Stability after Cleft Maxillary Distraction Osteogenesis or Conventional Orthognathic Surgery

    PubMed Central

    Svenstrup, Martin; Pedersen, Thomas Klit; Küseler, Annelise; Jensen, John; Nørholt, Sven Erik

    2015-01-01

    ABSTRACT Objectives To compare stability of maxillary advancements in patients with cleft lip and palate following distraction osteogenesis or orthognathic surgery. Material and Methods Inclusion criteria: 1) cleft lip and palate, 2) advancement > 8 mm. Eleven patients comprised the distraction osteogenesis group (DOG). Seven patients comprised the orthognathic treatment group (CONVG). Skeletal and soft tissue points were traced on lateral cephalograms: T1 (preoperatively), T2 (after surgery), T3 (follow-up). Group differences were analyzed using Students t-test. Results At T1-T2, advancement of 6.98 mm (P = 0.002) was observed in DOG. Horizontal overjet increased 11.62 mm (P = 0.001). A point-nasion-B point (ANB) angle increased 8.82° (P = 0.001). Aesthetic plane to upper lip was reduced 5.44 mm (P = 0.017) and the naso-labial angle increased 16.6° (P = 0.001). Vertical overbite (VOB) increased 2.27 mm (P = 0.021). In T2-T3, no significant changes were observed in DOG. In T1-T2, horizontal overjet increased 8.45 mm (P = 0.02). The ANB angle, 9.33° (P = 0.009) in CONVG. At T2-T3, VOB increased, 2.35 mm (P = 0.046), and the ANB angle reduced, 3.83° (P = 0.003). In T2-T3, no parameters changed in CONVG. At follow-up (T3), VOB increased in CONVG compared with DOG, (P = 0.01). Vertical position of A point differed between the groups (P = 0.04). No significant intergroup differences between soft tissue parameters occurred. Conclusions Distraction osteogenesis resulted in a stable position of the maxilla and movement upwards in vertical plane, however in case of orthognathic treatment sagittal relapse and a continued postoperatively downward movement was registered. PMID:26229581

  16. Rocket-borne particle, field, and plasma observations in the cleft region. [ionospheric sounding

    NASA Technical Reports Server (NTRS)

    Ungstrup, E.; Bahnsen, A.; Olesen, J. K.; Primdahl, F.; Spangslev, F.; Heikkila, W. J.; Klumpar, D. M.; Winningham, J. D.; Fahleson, U.; Falthammar, C.-G.

    1975-01-01

    Results are reported for comprehensive observations of magnetic and electric fields together with ambient and suprathermal plasmas above the dayside auroral oval with rocket-borne instrumentation which penetrated the cleft region. Measurements were also obtained equatorward and poleward of the cleft. Convection velocities as inferred from electric-field measurements were generally toward noon equatorward of the cleft and were antisunward over the polar cap. Observations of electron temperatures, electric fields, and low-frequency electrostatic noise provide strong evidence of a plasma instability (Farley-Buneman) in the E-layer associated with the appearance of the 'slant E condition' identified in ground-acquired ionograms. The positions of these measurements relative to that of the cleft were firmly established via the determination of the plasma environment with an electrostatic analyzer.

  17. A protocol for safe anasthesia for cleft lip and palate surgery in developing countries.

    PubMed

    Hodges, S C; Hodges, A M

    2000-05-01

    A project to perform surgical correction of cleft lips and palates was carried out in Uganda in 1998. Twenty centres were visited and 336 cleft lips and 41 cleft palates were repaired. The age of the patients ranged from 2 weeks to 60 years. Many of the centres visited were remote and lacked even the most basic equipment. Patients were anasthetised using ketamine, ether or halothane according to a protocol that we developed. There was no anasthetic mortality and only one case of significant morbidity. We report our experience and discuss recommendations regarding the provision of anasthesia in remote circumstances based on our outcome. An additional benefit of the project was that we provided training to local medical personnel in anasthesia and surgery for cleft lips and palates. PMID:10792134

  18. Maternal stress, superstition and communicative behaviour with Nigerian cleft lip and palate children.

    PubMed

    Nwanze, H O; Sowemimo, G O

    1987-01-01

    This study examines, through video recordings and interviews, superstitions held by families of children with cleft lip and palates (CLP) and the mothers' communicative relationship with them. 10 CLP children, 10 non-cleft (NC) children and their mothers, were the subjects. Evil spirits were cited as the dominant cause of the cleft. Husbands or the extended family blamed the mother for the defect in 70% of the homes. Negative family support was evident in 6 of the families. Mothers of CLP children were indulgent with them, but afforded them less autonomy than did mothers of NC children. There was also more linguistic sensitivity between mother and CLP child than within the control group, perhaps facilitating language development in the CLP children. Mothers were, however, withdrawn in relation to children with unrepaired cleft lips. Family education and counselling were recommended. PMID:3589574

  19. Dental management of Rapp-Hodgkin syndrome associated with oral cleft and hypodontia.

    PubMed

    Karthikeyani, Shanmugasundaram; Thirumurthy, Velliangattur Ramasamy; Yuvaraja, Bindhoo A

    2016-01-01

    Rapp-Hodgkin syndrome (RHS) is a rare type of autosomal dominant disorder characterized by association of ectodermal dysplasia (ED) with cleft lip/palate. The main features include dry, brittle hair with alopecia in adulthood, dental anomalies (hypodontia, microdontia with delayed eruption, fissured tongue, and retruded maxilla), hypohidrosis, dysplastic nails, and clefting. Palmar-plantar keratoderma is seen frequently. RHS has signs and symptoms that overlap considerably with those of ankyloblepharon-ED-clefting syndrome and ectrodactyly-ED-clefting syndrome. This manuscript discusses a case of RHS, one of the four members in three generations who had ED with variable degree of involvement of hair, teeth, nail, and sweat glands. PMID:27080974

  20. [Prevention of cleft lip and palate. Reducing risk of recurrence--a 25-year clinical experience].

    PubMed

    Schubert, Johannes; Krost, Birgit

    2006-09-01

    From 1980 to 2005, 71 female patients having non-syndromic cleft lip and palate (CLP) or cleft palate (CP) themselves or in their family and desiring to have children underwent 88 times a cleft prevention protocol with high doses of Vitamin B Complex and Actovegin twice a week. The data about the outcome of the pregnancy were prospectively collected. Empiric data of the recurrence risks from the literature depending on the cleft type were used as comparative group. In 80 cases, a healthy child was born. In two cases microsymptoms of unilateral lip notches were observed. The observed risks with prophylaxis were 2.9% (only microsymptoms!) and 0% comparing with 4.9% and 2.4% respectively in the controls. The relative risk as reference value between expected and observed risk was 0.6 (microsymptoms) for CLP and 0 for CP. PMID:16944083

  1. A Innovative Technique - Modified Feeding Bottle for a Cleft Palate Infant

    PubMed Central

    Lingegowda, Ashwini Budunur; Rayannavar, Sounyala; Kumari, Nirmala

    2016-01-01

    Cleft lip and cleft palate are one of the most common craniofacial anomalies. Infants suffer a lot of difficulty in sucking during the initial few days after birth. There is even psychological stress to the parents due to improper feeding and the infants lose weight and are prone to nutritional insufficiency. Due to recent advancement in the medical field, there is a total repair of cleft lip and cleft palate and these procedures are performed in the later stages of infants. It is the multidisciplinary approach which includes pedodontist, oral surgeon, prosthodontist and speech therapist. In this article, the technique is highlighted to fulfill the feeding problem of infants in the early stages of birth with a modified feeding bottle. PMID:27190971

  2. Morphofunctional changes of orofacial muscles in patients with unilateral or bilateral cleft lip, alveolus and palate.

    PubMed

    Proff, Peter; Weingärtner, Jens; Koppe, Thomas; Fanghänel, Jochen; Mack, Florian; Gedrange, Tomas

    2007-01-01

    The facial musculature is part of a biocybernetic feedback system within the stomatognathic system, the continuity of which is disturbed by clefts of the lip, jaw, and palate (cheilognathopalatoschisis). This results in topographic, fine-structural and functional alterations of the facial musculature. In two heads with unilateral clefts and two heads with bilateral clefts, the facial musculature was dissected and the M. orbicularis oris macroscopically and topographically examined. We found changes in the attachment of the M. orbicularis oris. The modiolus, which is coresponsible for the proper topographic relation of the M. obicularis oris to the other facial muscles, was unchanged. Further, we examined the vascular system of the muscle, which likewise adapts to the altered situation. Lip/jaw/palatal clefts result in anatomically functional and fine-structural alterations of the M. orbicularis oris, while the rest of the facial musculature remains unchanged. PMID:17419554

  3. Management of feeding Problem in a Patient with Cleft Lip/Palate

    PubMed Central

    Goswami, Mridula; Bhushan, Urvashi

    2016-01-01

    ABSTRACT In a child with cleft lip and/or palate, nutrition is the first priority as for any other child. These children have specific physical limitations. To fulfill their nutritional requirement, these children need modifications in order to thrive and grow. Failure to adjust to these needs could place the children into a potential life-threatening situation. One of the immediate problems to be addressed in a newborn with cleft lip/palate is difficulty in feeding. Nasal regurgitation and choking are common because of inability of the palate to separate the nasal and oral cavities. The case presented here discusses the management of feeding problem in the infant with cleft lip/palate. How to cite this article: Goswami M, Jangra B, Bhushan U. Management of feeding Problem in a Patient with Cleft Lip/ Palate. Int J Clin Pediatr Dent 2016;9(2):143-145. PMID:27365936

  4. A Innovative Technique - Modified Feeding Bottle for a Cleft Palate Infant.

    PubMed

    Hiremath, Vinuta Siddayya; Lingegowda, Ashwini Budunur; Rayannavar, Sounyala; Kumari, Nirmala

    2016-04-01

    Cleft lip and cleft palate are one of the most common craniofacial anomalies. Infants suffer a lot of difficulty in sucking during the initial few days after birth. There is even psychological stress to the parents due to improper feeding and the infants lose weight and are prone to nutritional insufficiency. Due to recent advancement in the medical field, there is a total repair of cleft lip and cleft palate and these procedures are performed in the later stages of infants. It is the multidisciplinary approach which includes pedodontist, oral surgeon, prosthodontist and speech therapist. In this article, the technique is highlighted to fulfill the feeding problem of infants in the early stages of birth with a modified feeding bottle. PMID:27190971

  5. Management of feeding Problem in a Patient with Cleft Lip/Palate.

    PubMed

    Goswami, Mridula; Jangra, Babita; Bhushan, Urvashi

    2016-01-01

    In a child with cleft lip and/or palate, nutrition is the first priority as for any other child. These children have specific physical limitations. To fulfill their nutritional requirement, these children need modifications in order to thrive and grow. Failure to adjust to these needs could place the children into a potential life-threatening situation. One of the immediate problems to be addressed in a newborn with cleft lip/palate is difficulty in feeding. Nasal regurgitation and choking are common because of inability of the palate to separate the nasal and oral cavities. The case presented here discusses the management of feeding problem in the infant with cleft lip/palate. How to cite this article: Goswami M, Jangra B, Bhushan U. Management of feeding Problem in a Patient with Cleft Lip/ Palate. Int J Clin Pediatr Dent 2016;9(2):143-145. PMID:27365936

  6. Ectrodactyly, Ectodermal dysplasia, and Cleft Lip-Palate Syndrome; Its Association with Conductive Hearing Loss

    ERIC Educational Resources Information Center

    Robinson, Geoffrey C.; And Others

    1973-01-01

    Conductive hearing loss associated with the ectrodactyly, ectodermal dysplasia, and cleft lip palate syndrome was reported in one sporadic case and in a pedigree with four cases in three generations. (GW)

  7. Phenotypic discordance in a family with monozygotic twins and non-syndromic cleft lip and palate

    SciTech Connect

    Wyszynski, D.F. |; Lewanda, A.F. |; Beaty, T.H.

    1996-12-30

    Despite considerable research, the cause of non-syndromic cleft lip with or without cleft palate (NSCLP) is still an enigma. Case-control and cohort studies have searched for environmental factors that might influence the development of this common malformation, such as maternal cigarette smoking, periconceptional supplementation of folic acid and multivitamins, agricultural chemical use, and place of residence, among others. However, these studies are subject to numerous biases, and their results have often been contradictory and inconclusive. 41 refs., 1 fig.

  8. No spreading across the southern Juan de Fuca ridge axial cleft during 1994-1996

    USGS Publications Warehouse

    Chadwell, C.D.; Hildebrand, J.A.; Spiess, Fred N.; Morton, J.L.; Normark, W.R.; Reiss, C.A.

    1999-01-01

    Direct-path acoustic measurements between seafloor transponders observed no significant extension (-10 ?? 14 mm/yr) from August 1994 to September 1996 at the southern Juan de Fuca Ridge (44??40' N and 130??20' W). The acoustic path for the measurement is a 691-m baseline straddling the axial cleft, which bounds the Pacific and Juan de Fuca plates. Given an expected full-spreading rate of 56 mm/yr, these data suggest that extension across this plate boundary occurs episodically within the narrow (~1 km) region of the axial valley floor, and that active deformation is occurring between the axial cleft and the plate interior. A cleft-parallel 714-m baseline located 300 m to the west of the cleft on the Pacific plate monitored system performance and, as expected, observed no motion (+5??7 mm/yr) between the 1994 and 1996 surveys.Direct-path acoustic measurements between seafloor transponders observed no significant extension (-10 ?? 14 mm/yr) from August 1994 to September 1996 at the southern Juan de Fuca Ridge (44??40 minutes N and 130??20 minutes W). The acoustic path for the measurement is a 691-m baseline straddling the axial cleft, which bounds the Pacific and Juan de Fuca plates. Given an expected full-spreading rate of 56 mm/yr, these data suggest that extension across this plate boundary occurs episodically within the narrow (approx. 1 km) region of the axial valley floor, and that active deformation is occurring between the axial cleft and the plate interior. A cleft-parallel 714-m baseline located 300 m to the west of the cleft on the Pacific plate monitored system performance and, as expected, observed no motion (+5 ?? 7 mm/yr) between the 1994 and 1996 surveys.

  9. Folate and One-Carbon Metabolism Gene Polymorphisms and Their Associations With Oral Facial Clefts

    PubMed Central

    Boyles, Abee L.; Wilcox, Allen J.; Taylor, Jack A.; Meyer, Klaus; Fredriksen, Åse; Ueland, Per Magne; Drevon, Christian A.; Vollset, Stein Emil; Lie, Rolv Terje

    2008-01-01

    Folate metabolism plays a critical role in embryonic development. Prenatal folate supplementation reduces the risk of neural tube defects and probably oral facial clefts. Previous studies of related metabolic genes have associated polymorphisms in cystathionine-beta-synthase (CBS) and 5,10-methylenetetrahydrofolate reductase (MTHFR) with cleft risk. We explored associations between genes related to one-carbon metabolism and clefts in a Norwegian population-based study that included 362 families with cleft lip with or without cleft palate (CL/P) and 191 families with cleft palate only (CPO). We previously showed a 39% reduction in risk of CL/P with folic acid supplementation in this population. In the present study we genotyped 12 polymorphisms in nine genes related to one-carbon metabolism and looked for associations of clefting risk with fetal polymorphisms, maternal polymorphisms, as well as parent-of-origin effects, using combined likelihood-ratio tests (LRT). We also stratified by maternal periconceptional intake of folic acid (>400 μg) to explore gene-exposure interactions. We found a reduced risk of CL/P with mothers who carried the CBS C699T variant (rs234706); relative risk was 0.94 with one copy of the T allele (95% CI 0.63-1.4) and 0.50 (95% CI 0.26-0.96) with two copies (P = 0.008). We found no evidence of interaction of this variant with folate status. We saw no evidence of risk from the MTHFR C677T variant (rs1801133) either overall or after stratifying by maternal folate intake. No associations were found between any of the polymorphisms and CPO. Genetic variations in the nine metabolic genes examined here do not confer a substantial degree of risk for clefts. Published 2008 Wiley-Liss, Inc.† PMID:18203168

  10. Sternal Cleft associated with Patent Ductus Arteriosus, Atrial Septal Defect, and Subglottic Hemangioma: A rarity.

    PubMed

    Sadeghian, Naser; Mirshemirani, Alireza; Sadeghian, Irandokht

    2014-01-01

    We present a 2-day-old female neonate with cleft of the upper sternum, patent ductus arteriosus (PDA), atrial septal defect (ASD), and subglottic hemangioma. Dimensional and Doppler echocardiography, abdominal ultrasonography, and imaging were performed. She underwent a surgical repair of sternal cleft in neonatal life. After 8 months, she developed respiratory distress, apnea due to subglottic hemangioma. She underwent urgent tracheostomy. Subglottic hemangioma was treated with the KTP532 laser. PMID:24834387

  11. Prevalence and management of natal/neonatal teeth in cleft lip and palate patients

    PubMed Central

    Yilmaz, R. Burcu Nur; Cakan, Derya Germec; Mesgarzadeh, Nasim

    2016-01-01

    Objective: The aim of this study was to determine the prevalence and distribution of natal/neonatal teeth in infants with cleft lip and palate (CLP) according to gender, involving jaw and side and to show the management of some cases. Materials and Methods: A retrospective study was carried out on medical history and photographic records of 69 infants with CLP, who were treated at the CLP clinic of Yeditepe University between years 2014–2015. The presence of neonatal teeth was determined, and if present the gender, type of cleft, and position were recorded. Statistical analysis was performed. Results: Neonatal teeth were observed in 7% of the study group. No significant differences were found between cleft types and gender (P > 0.05). The prevalence of neonatal teeth in bilateral, unilateral and isolated cleft type was 16.5%, 6.5%, and none, respectively. All neonatal teeth were located in the maxilla and on the cleft-side (100%). Conclusion: The presence of natal/neonatal teeth in infants with CLP was not rare. In all of these cases the teeth were located adjacent to the cleft region. In isolated palatal cleft, where the alveolar region including the teeth buds are away from the cleft, no neonatal teeth were observed. It may be concluded that neonatal teeth in infants with CLP are frequently present and located inside the borders of the presurgical orthopedic treatment (POT) plate. Therefore, if possible, immediate extraction of the neonatal teeth is advised or if not possible because of systemic health reasons, modifications of the plate are required. PMID:27011740

  12. CRISPLD2 VARIANTS INCLUDING A C471T SILENT MUTATION MAY CONTRIBUTE TO NONSYNDROMIC CLEFT LIP WITH OR WITHOUT CLEFT PALATE

    PubMed Central

    Letra, Ariadne; Menezes, Renato; Cooper, Margaret E.; Fonseca, Renata F.; Tropp, Stephen; Govil, Manika; Granjeiro, Jose M.; Imoehl, Sandra R.; Mansilla, M. Adela; Murray, Jeffrey C.; Castilla, Eduardo E.; Orioli, Iêda M.; Czeizel, Andrew E.; Ma, Lian; Chiquet, Brett T.; Student, Dental; Hecht, Jacqueline T.; Vieira, Alexandre R.; Marazita, Mary L.

    2010-01-01

    Objective To assess association between nonsyndromic (NS) cleft lip with or without cleft palate (CL(P)) and SNPs within the CRISPLD2 gene (cysteine-rich secretory protein LCCL domain containing 2). Design Four SNPs within the CRISPLD2 gene domain (rs1546124, rs8061351, rs2326398, rs4783099) were genotyped to test for association via family-based association methods. Participants 5,826 individuals from 1,331 families in which one or more family member is affected with CL(P). Results Evidence of association was seen for SNP rs1546124 in USA (p=0.02) and Brazilian (p=0.04) Caucasian cohorts. We also found association of SNP rs1546124 with cleft palate alone (CP) in South Americans (Guatemala and ECLAMC) and combined Hispanics (Guatemala, ECLAMC and Texas Hispanics) (p=0.03 for both comparisons), and with both cleft lip with cleft palate (CLP; p=0.04) and CL(P) (p=0.02) in North Americans. Strong evidence of association was found for SNP rs2326398 with CP in Asian populations (p=0.003) and with CL(P) in Hispanics (p=0.03), and also with bilateral CL(P) in the Brazilians (p=0.004). In the Brazilians, SNP rs8061351 showed association with cleft subgroups incomplete CL(P) (p=0.004), and unilateral incomplete CL(P) (p=0.003). Prediction of SNP functionality revealed that the C allele in the C471T silent mutation (overrepresented in cases with CL(P) presents two putative exonic splicing enhancer motifs and creates a binding site AP-2 alpha, a transcription factor involved in craniofacial development. Conclusions Our results support the hypothesis that variants in the CRISPLD2 gene may be involved in the etiology of NS CL(P). PMID:20815724

  13. Nasoalveolar Molding in Cleft Care—Experience in 40 Patients from a Single Centre in Germany

    PubMed Central

    Rau, Andrea; Ritschl, Lucas M.; Mücke, Thomas; Wolff, Klaus-Dietrich; Loeffelbein, Denys J.

    2015-01-01

    Nasoalveolar molding (NAM) has gained wide acceptance and evidence in cleft therapy. However, standardized treatment protocols and experiences recorded from European centres are lacking. The results of 40 infants with cleft lip and palate treated with presurgical NAM according to the Grayson technique were analyzed. Standardized parameters of cleft width and nasal symmetry were measured in pre- and posttreatment plaster casts and in digitalized 3-dimensional STL models. Statistical analyses were performed by using Student´s t-test in a per-protocol manner. 27 out of 40 infants completed NAM and were analyzed. In 13 patients NAM was either temporarily interrupted or terminated prematurely due to skin irritations or lack of parental support. These cases were excluded from statistical analysis, resulting in a drop-out rate of 32.5%. Intersegmental alveolar distance (ISAD), intersegmental lip distance (ISLD), nostril height (NH), nostril width (NW) and columella deviation angle (CDA) were significantly changed in unilateral cleft lip and palate (UCLP) (n = 8). In unilateral cleft lip (UCL) (n = 9), only ISLD, NH and CDA were significantly changed. ISAD of the right and left side, ISLD of the right and left side, premaxilla deviation angle, nostril height and columella length were changed significantly in bilateral cleft lip and palate (BCLP) cases (n = 10). NAM is a suitable presurgical treatment modality. A positive effect has been seen in UCLP and BCLP infants, as compared with their birth status. PMID:25734535

  14. 3D comparison of average faces in subjects with oral clefts.

    PubMed

    Bugaighis, Iman; Tiddeman, Bernard; Mattick, Claire R; Hobson, Ross

    2014-08-01

    This prospective cross-sectional, case-controlled morphometric study assessed three dimensional (3D) facial morphological differences between average faces of 103 children aged 8-12 years; 40 with unilateral cleft lip and palate (UCLP), 23 with unilateral cleft lip and alveolus (UCLA), 19 with bilateral cleft lip and palate (BCLP), 21 with isolated cleft palate (ICP), and 80 gender and age-matched controls. 3D stereophotogrammetric facial scans were recorded for each participant at rest. Thirty-nine landmarks were digitized for each scan, and x-, y-, z-coordinates for each landmark were extracted. A 3D photorealistic average face was constructed for each participating group and subjective and objective comparisons were carried out between each cleft and control average faces. Marked differences were observed between all groups. The most severely affected were groups where the lip and palate were affected and repaired (UCLP and UCLA). The group with midsagittal palatal deformity and repair (ICP) was the most similar to the control group. The results revealed that 3D shape analysis allows morphometric discrimination between subjects with craniofacial anomalies and the control group, and underlines the potential value of statistical shape analysis in assessing the outcomes of cleft lip and palate surgery, and orthodontic treatment. PMID:23172581

  15. X-linked markers in the Duchenne muscular dystrophy gene associated with oral clefts.

    PubMed

    Patel, Poorav J; Beaty, Terri H; Ruczinski, Ingo; Murray, Jeffrey C; Marazita, Mary L; Munger, Ronald G; Hetmanski, Jacqueline B; Wu, Tao; Murray, Tanda; Rose, Margaret; Redett, Richard J; Jin, Sheng C; Lie, Rolv T; Wu-Chou, Yah-Huei; Wang, Hong; Ye, Xiaoqian; Yeow, Vincent; Chong, Samuel; Jee, Sun H; Shi, Bing; Scott, Alan F

    2013-04-01

    As part of an international consortium, case-parent trios were collected for a genome-wide association study of isolated, non-syndromic oral clefts, including cleft lip (CL), cleft palate (CP), and cleft lip and palate (CLP). Non-syndromic oral clefts have a complex and heterogeneous etiology. Risk is influenced by genes and environmental factors, and differs markedly by gender. Family-based association tests (FBAT) were used on 14,486 single nucleotide polymorphisms (SNPs) spanning the X chromosome, stratified by type of cleft and racial group. Significant results, even after multiple-comparisons correction, were obtained for the Duchenne muscular dystrophy (DMD) gene, the largest single gene in the human genome, among CL/P (i.e., both CL and CLP combined) trios. When stratified into groups of European and Asian ancestry, stronger signals were obtained for Asian subjects. Although conventional sliding-window haplotype analysis showed no increase in significance, selected combinations of the 25 most significant SNPs in the DMD gene identified four SNPs together that attained genome-wide significance among Asian CL/P trios, raising the possibility of interaction between distant SNPs within the DMD gene. PMID:23489894

  16. A focal adhesion protein-based mechanochemical checkpoint regulates cleft progression during branching morphogenesis

    PubMed Central

    Daley, William P.; Kohn, Joshua M.; Larsen, Melinda

    2011-01-01

    Cleft formation is the initial step of branching morphogenesis in many organs. We previously demonstrated that ROCK 1 regulates a non-muscle myosin II-dependent mechanochemical checkpoint to transition initiated clefts to progressing clefts in developing submandibular salivary glands. Here, we report that ROCK-mediated integrin activation and subsequent formation of focal adhesion complexes comprise this mechanochemical checkpoint. Inhibition of ROCK1 and non-muscle myosin II activity decreased integrin β1 activation in the cleft region and interfered with localization and activation of focal adhesion complex proteins, such as focal adhesion kinase (FAK). Inhibition of FAK activity also prevented cleft progression, by disrupting recruitment of the focal adhesion proteins talin and vinculin and subsequent fibronectin assembly in the cleft region while decreasing ERK1/2 activation. These results demonstrate that inside-out integrin signaling leading to a localized recruitment of active FAK-containing focal adhesion protein complexes generates a mechanochemical checkpoint that facilitates progression of branching morphogenesis. PMID:22016182

  17. Esthetic, Functional, and Everyday Life Assessment of Individuals with Cleft Lip and/or Palate

    PubMed Central

    Papamanou, Despina A.; Karamolegkou, Marina; Dorotheou, Domna

    2015-01-01

    Objectives. To evaluate the level of satisfaction of individuals with cleft lip and/or palate (CLP) and their parents concerning the esthetic and functional treatment outcomes, the impact of the cleft on everyday life, and potential associations with treatment outcome satisfaction. Subjects and Methods. The sample consisted of 33 patients (7 CP, 20 unilateral CLP, and 6 bilateral CLP; median age: 17.1, range: 9.0–33.1 years) and 30 parents, who responded to a questionnaire in an interview-guided session. All participants received their orthodontic treatment at the Department of Orthodontics in the University of Athens. Results. Patients and their parents were quite satisfied with esthetics and function. Patients with UCLP primarily were concerned about nose esthetics (BCLP about lip esthetics and CP about speech). Increased satisfaction was associated with decreased influence of the cleft in everyday life (0.35 < rho < 0.64, P < 0.05). Parents reported significant influence of the cleft on family life, while patients did not. Conclusions. Despite the limited sample size of subgroups, the main concerns of patients with different cleft types and the importance of satisfying lip, nose, and speech outcomes for an undisturbed everyday life were quite evident. Thus, the need for targeted treatment strategies is highlighted for individuals with cleft lip and/or palate. PMID:26064918

  18. Dental anomalies in children with cleft lip and palate in Western Australia

    PubMed Central

    Nicholls, Wendy

    2016-01-01

    Objective: The purpose of this paper was to describe the prevalence and type of dental anomalies in the primary and permanent dentition in children with a cleft condition at Princess Margaret Hospital in Perth, Western Australia. Materials and Methods: The details of 162 current dental patients extracted from the main dental database through their year of birth for the period 1998–2001 were selected consecutively. Dental records and X-rays were examined by one examiner (WN) and verified by a second examiner (RB) to determine dental development. The mean age of the subjects was 10.8 years with equal numbers of males and females. Subjects were further divided into cleft type; unilateral cleft lip (UCL) and palate, bilateral cleft lip (BCL) and palate, UCL, BCL, and cleft palate. Results: One hundred sixty-two subjects were grouped into 21 categories of anomaly or abnormality. Prevalence rates for the categories were calculated for the overall group and for gender and cleft type. Conclusion: Overall, 94% of patients were found to have at least one dental anomaly, with fifty-six (34%) patients having more than one anomaly or abnormality. PMID:27095907

  19. Centralization of cleft care in the UK. Part 6: a tale of two studies

    PubMed Central

    Ness, A R; Wills, A K; Waylen, A; Al-Ghatam, R; Jones, T E M; Preston, R; Ireland, A J; Persson, M; Smallridge, J; Hall, A J; Sell, D; Sandy, J R

    2015-01-01

    Structured Abstract Objectives We summarize and critique the methodology and outcomes from a substantial study which has investigated the impact of reconfigured cleft care in the United Kingdom (UK) 15 years after the UK government started to implement the centralization of cleft care in response to an earlier survey in 1998, the Clinical Standards Advisory Group (CSAG). Setting and Sample Population A UK multicentre cross-sectional study of 5-year-olds born with non-syndromic unilateral cleft lip and palate. Data were collected from children born in the UK with a unilateral cleft lip and palate between 1 April 2005 and 31 March 2007. Materials and Methods We discuss and contextualize the outcomes from speech recordings, hearing, photographs, models, oral health and psychosocial factors in the current study. We refer to the earlier survey and other relevant studies. Results We present arguments for centralization of cleft care in healthcare systems, and we evidence this with improvements seen over a period of 15 years in the UK. We also make recommendations on how future audit and research may configure. Conclusions Outcomes for children with a unilateral cleft lip and palate have improved after the introduction of a centralized multidisciplinary service, and other countries may benefit from this model. Predictors of early outcomes are still needed, and repeated cross-sectional studies, larger longitudinal studies and adequately powered trials are required to create a research-led evidence-based (centralized) service. PMID:26567856

  20. Selection bias in genetic-epidemiological studies of cleft lip and palate

    SciTech Connect

    Christensen, K.; Holm, N.V.; Kock, K. ); Olsen, J. ); Fogh-Anderson, P.

    1992-09-01

    The possible impact of selection bias in genetic and epidemiological studies of cleft lip and palate was studied, using three nationwide ascertainment sources and an autopsy study in a 10% sample of the Danish population. A total of 670 cases were identified. Two national record systems, when used together, were found suitable for ascertaining facial cleft in live births. More than 95% ascertainment was obtained by means of surgical files for cleft lip (with or without cleft palate) without associated malformations/syndromes. However, surgical files could be a poor source for studying isolated cleft palate (CP) (only a 60% and biased ascertainment), and they cannot be used to study the prevalence of associated malformations or syndromes in facial cleft cases. The male:female ratio was 0.88 in surgically treated cases of CP and was 1.5 in nonoperated CP cases, making the overall sex ratio for CP 1.1 (95% confidence limits 0.86-1.4) The sex ratio for CP without associated malformation was 1.1 (95% confidence limits 0.84-1.6). One of the major test criteria in CP multifactorial threshold models (higher CP liability among male CP relatives) must be reconsidered, if other investigations confirm that a CP sex-ratio reversal to male predominance occurs when high ascertainment is achieved. 24 refs., 1 fig., 4 tabs.

  1. Tobacco and alcohol use during pregnancy and risk of oral clefts. Occupational Exposure and Congenital Malformation Working Group.

    PubMed Central

    Lorente, C; Cordier, S; Goujard, J; Aymé, S; Bianchi, F; Calzolari, E; De Walle, H E; Knill-Jones, R

    2000-01-01

    OBJECTIVES: This study examined the relationship between maternal tobacco and alcohol consumption during the first trimester of pregnancy and oral clefts. METHODS: Data were derived from a European multicenter case-control study including 161 infants with oral clefts and 1134 control infants. RESULTS: Multivariate analyses showed an increased risk of cleft lip with or without cleft palate associated with smoking (odds ratio [OR] = 1.79, 95% confidence interval [CI] = 1.07, 3.04) and an increased risk of cleft palate associated with alcohol consumption (OR = 2.28, 95% CI = 1.02, 5.09). The former risk increased with the number of cigarettes smoked. CONCLUSIONS: This study provides further evidence of the possible role of prevalent environmental exposures such as tobacco and alcohol in the etiology of oral clefts. PMID:10705862

  2. Unilateral Le Fort I Osteotomy for Rehabilitating the Large Alveolar Cleft and Vertical Malocclusion With the Distraction Technique.

    PubMed

    Baykul, Timuçin; Aydin, Mustafa Asim; Findik, Yavuz; Esenlik, Elçin

    2016-05-01

    Rehabilitation of the large alveolar clefts with autogenous graft or distraction osteogenesis is one of the most common treatment choices. Depending on the clinical situation such as vertical deficiencies, linear transport of the segment does not always ensure a proper closure of the cleft space. In this report, the authors present a patient in whom large unilateral cleft and vertical alveolar deficiency were closed by unilateral Le Fort I osteotomy and distraction technique using the orthodontic elastics. PMID:27054420

  3. CLEFT LIP, ALVEOLUS AND PALATE IN AFRICAN NATIVES: AN UPDATE ON DEMOGRAPHICS AND MANAGEMENT OUTCOME

    PubMed Central

    Akintububo, O.B.; Ojo, E.O.; Kokong, DD; Adamu, S.A.; Nnadozie, U.U; Yunusa-Kaltungo, Z; Jalo, I; Dauda, A.M

    2015-01-01

    Background Development of craniofacial structures is a complex process and disruption of any of the numerous steps can lead to development of oro-facial clefts. This is a surgically amenable anomaly as from early life that has had conflicting pattern of demographics reported by various researchers globally. There are several factors that are critical to the surgical outcome. Objective Study the demographics and the management outcome of cleft lip, alveolus and palate and highlight factors responsible for improved care in recent time. Design Descriptive cohort study. Setting Tertiary health institution Method All consecutive patients managed for cleft lip, alveolus and palate (CLAP) over 7years and 10months were studied. Outcome Cleft lip, alveolus and palate repair was performed on 149 patients, January 1, 2001– December 31, 2008 with an incidence of 2.1/1000 live births. From this, 27 patients, averaging 4.5 patients per year were operated for the first 6 1/3 years while the remaining 122(81.9%) the next 1 1/2 years, averaging 81.6 patients yearly. Their ages ranged from 3 months – 60 years with 77 (51.7%) males and 72 (48.3.0%) females. Cleft lip was the main presentation in 108(72.5%) of which 72(66.7%) were left sided. Bilateral cleft lip were14 (9.4%). Five (3.4%) patients had associated anomalies out of which 3(60.0%) had CLAP while 2(40.0%) isolated cleft lip or palate. The technique for cleft lip repair was Millard’s and Noordhoof’s while palatal cleft was the two-flap palatoplasty with intravelar veloplasty. Success was recorded in 142(95.3%) with complication observed in 7(4.7%) patients. Conclusion The rarity of cleft lip, alveolus and/or palate in the African native documented previously may no longer be tenable as observe in this study. Management outcome has improved owing to the collaboration with SmileTrain, USA, along with multidisciplinary approach. PMID:26709327

  4. Contemporary management of cleft lip and palate in the United Kingdom. Have we reached the turning point?

    PubMed

    Colbert, S D; Green, Ben; Brennan, P A; Mercer, N

    2015-09-01

    Babies born with clefts of the lip, and the alveolus or palate, or both, require multidisciplinary, highly specialised treatment from birth to early adulthood. We review the contemporary management of clefts and outline the current treatment protocol adopted by cleft networks in the United Kingdom. We also look at the level of evidence and the restructuring of services that has defined current practice. In light of the recent Cleft Care UK study, we ask whether it is now time to adopt a new philosophy towards the surgical techniques that are used. PMID:26130590

  5. 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

  6. Dental and maxillofacial characteristics of six Japanese individuals with ectrodactyly-ectodermal dysplasia-clefting syndrome.

    PubMed

    Okamura, Erika; Suda, Naoto; Baba, Yoshiyuki; Fukuoka, Hiroki; Ogawa, Takuya; Ohkuma, Mizue; Ahiko, Nozomi; Yasue, Akihiro; Tengan, Toshimoto; Shiga, Momotoshi; Tsuji, Michiko; Moriyama, Keiji

    2013-03-01

    Objective : Ectrodactyly-ectodermal dysplasia-clefting syndrome is a congenital anomaly characterized by ectodermal dysplasia, ectrodactyly, cleft lip and palate, and lacrimal duct anomalies. Because this syndrome is frequently accompanied by a congenital lack of teeth, narrow palate, and malocclusion, comprehensive orthodontic intervention is required. Design : To highlight the specific dental and maxillofacial characteristics of ectrodactyly-ectodermal dysplasia-clefting syndrome, six Japanese individuals diagnosed with the syndrome are described here. Patients : The subjects consisted of two boys and four girls (age range, 6.0 to 13.9 years) diagnosed with ectrodactyly-ectodermal dysplasia-clefting syndrome by medical and dental specialists. Their conditions included ectodermal dysplasia (hypodontia, microdontia, enamel hypoplasia, and abnormalities in hair and nails), cleft lip and/or palate, and ectrodactyly. Cephalograms, panoramic x-rays, and dental casts were taken; systemic complications were recorded at the first visit to our dental hospital. Results : All individuals had severe oligodontia with 9 to 18 missing teeth. The missing teeth were mainly maxillary and mandibular incisors and second bicuspids, arranged in a symmetrical manner. Cephalometric analysis showed retruded and short maxilla due to cleft lip and/or palate. It is interesting that all individuals showed a characteristically shaped mandibular symphysis with a retruded point B. It is likely that this unusual symphyseal morphology is due to the lack of mandibular incisors. Conclusions : This study demonstrates the presence of severe oligodontia in the incisal and premolar regions and describes a characteristic maxillary and mandibular structure in Japanese individuals with ectrodactyly-ectodermal dysplasia-clefting syndrome. PMID:22236363

  7. CLEFT PALATE IN HIV-EXPOSED NEWBORNS OF MOTHERS ON HIGHLY ACTIVE ANTIRETROVIRAL THERAPY

    PubMed Central

    James, Ayotunde; Oluwatosin, Babatunde; Njideka, Georgina; Babafemi; Benjamin, Onyekwere George; Olufemi, David; Leo, Robert; Folorunso, Isaac; Phylis; Olusina, Olusegun

    2014-01-01

    Aims Cleft lip/palate, though rare, is the commonest head and neck congenital malformation. Both genetic and environmental factors have been implicated in the aetiopathogenesis but the role of in-utero exposure to human immunodeficiency virus (HIV) and highly active antiretroviral therapy (HAART) is still being investigated. This short communication reports the occurrence of cleft palate in three newborns exposed in-utero to HIV and HAART. Material and methods This is a case series of HIV-exposed newborns observed to have cleft palate among a larger cohort of HIV-exposed and unexposed newborns in a study evaluating the effect of HIV infection and HAART on newborn hearing. The Risk Ratio (RR) was calculated to detect a potential association between in-utero exposure to Efavirenz containing ART and cleft palate. Results Three HIV-exposed newborns with cleft palate were identified during hearing screening performed on 126 HIV-exposed and 121 HIV unexposed newborns. Two had exposure to tenofovir+lamivudine+efavirenz (TDF+3TC+EFV) while the third had exposure to zidovudine+lamivudine+nevirapine (ZDV+3TC+NVP) during the first trimester. There was no statistically significant association between presence of cleft palate and exposure to an EFV containing HAART regimen (p=0.07, RR=10.95 [0.94-126.84]). Conclusions This communication highlights the possible aetiologic role of HAART in cleft palate, the need for further prospective follow-up studies and establishment of antiretroviral pregnancy, birth and neonatal registries. PMID:25653715

  8. Orthognathic Consequences of Sphincter Pharyngoplasty in Cleft Patients: A 2-Institutional Study

    PubMed Central

    Yoshikane, Frances; Lai, Li Han; Hui, Brian K.; Martins, Deborah B.; Farias-Eisner, Gina; Mandelbaum, Rachel S.; Hoang, Han; Bradley, James P.; Wilson, Libby

    2016-01-01

    Background: Understanding long-term sequelae of cleft treatment is paramount in the refinement of treatment algorithms to accomplish optimized immediate and long-term outcomes. In this study, we reviewed sphincter pharyngoplasties as a method of velopharyngeal insufficiency (VPI) treatment in relationship to orthognathic surgery. Methods: Cleft lip/palate and cleft palate patients, 15 years of age and older, were reviewed for demographics, VPI surgery, revisions, and subsequent orthognathic surgery at 2 institutions. Chi-square test, Student’s t test, and logistic regression analyses were performed. Results: In 214 patients reviewed (mean age, 19.5 years), 61.7% were male, 18.2% had isolated cleft palate, 61.2% had unilateral cleft lip and palate, and 20.6% had bilateral cleft lip and palate. A total of 33.6% were diagnosed with VPI and received a sphincter pharyngoplasty (mean age, 11.9 years). When subsequent orthognathic surgery was examined, sphincter pharyngoplasty was not associated with maxillary advancement (P = 0.59) but did correlate with an increase in mandibular surgery from 2.8% to 11.1% (P = 0.02). The indications for mandibular surgery in the pharyngoplasty population were related to congenital micrognathia. When cephalometric analyses were evaluated, sphincter pharyngoplasty resulted in a decreased sella-to-nasion-to-B point angle (mean, 79.0–76.3 degrees, P = 0.02) and a higher incidence of normal to class II maxillomandibular relationships as defined by A point-to-nasion-to-B point angles >0.5 (P = 0.02). Conclusions: Sphincter pharyngoplasty decreases anterior mandibular growth and the discrepancy between maxillomandibular skeletal relationships because of the frequent predisposition of cleft patients to maxillary hypoplasia. In patients with congenital mandibular micrognathia, a small increase in mandibular surgeries may occur. PMID:27200238

  9. A comprehensive review of the genetic basis of cleft lip and palate

    PubMed Central

    Kohli, Sarvraj Singh; Kohli, Virinder Singh

    2012-01-01

    Cleft lip and palate (CLP) are birth defects that affect the upper lip and the roof of the mouth. CLP has a multifactorial etiology, comprising both genetic and environmental factors. In this review we discuss the recent data on the etiology of cleft lip and palate. We conducted a search of the MEDLINE database (Entrez PubMed) from January 1986 to December 2010 using the key words: ‘cleft lip,’ ‘cleft palate,’ ‘etiology,’ and ‘genetics.’ The etiology of CLP seems complex, with genetics playing a major role. Several genes causing syndromic CLP have been discovered. Three of them—T-box transcription factor-22 (TBX22), poliovirus receptor-like-1 (PVRL1), and interferon regulatory factor-6 (IRF6)—are responsible for causing X-linked cleft palate, cleft lip/palate–ectodermal dysplasia syndrome, and Van der Woude and popliteal pterygium syndromes, respectively; they are also implicated in nonsyndromic CLP. The nature and functions of these genes vary widely, illustrating the high vulnerability within the craniofacial developmental pathways. The etiological complexity of nonsyndromic cleft lip and palate is also exemplified by the large number of candidate genes and loci. To conclude, although the etiology of nonsyndromic CLP is still largely unknown, mutations in candidate genes have been identified in a small proportion of cases. Determining the relative risk of CLP on the basis of genetic background and environmental influence (including smoking, alcohol use, and dietary factors) will be useful for genetic counseling and the development of future preventive measures. PMID:22438645

  10. Addressing the challenges of cleft lip and palate research in India

    PubMed Central

    Mossey, Peter; Little, Julian

    2009-01-01

    The Indian sub-continent remains one of the most populous areas of the world with an estimated population of 1.1 billion in India alone. This yields an estimated 24.5 million births per year and the birth prevalence of clefts is somewhere between 27,000 and 33,000 clefts per year. Inequalities exist, both in access to and quality of cleft care with distinct differences in urban versus rural access and over the years the accumulation of unrepaired clefts of the lip and palate make this a significant health care problem in India. In recent years the situation has been significantly improved through the intervention of Non Governmental Organisations such as SmileTrain and Transforming Faces Worldwide participating in primary surgical repair programmes. The cause of clefts is multi factorial with both genetic and environmental input and intensive research efforts have yielded significant advances in recent years facilitated by molecular technologies in the genetic field. India has tremendous potential to contribute by virtue of improving research expertise and a population that has genetic, cultural and socio-economic diversity. In 2008, the World Health Organisation (WHO) has recognised that non-communicable diseases, including birth defects cause significant infant mortality and childhood morbidity and have included cleft lip and palate in their Global Burden of Disease (GBD) initiative. This will fuel the interest of India in birth defects registration and international efforts aimed at improving quality of care and ultimately prevention of non-syndromic clefts of the lip and palate. PMID:19884687

  11. Cleft Palate Habilitation; Proceedings of the Annual Symposium on Cleft Palate Habilitation (5th, Syracuse University, New York, May 11-12, 1967).

    ERIC Educational Resources Information Center

    Lencione, Ruth M., Ed.

    With emphasis on the growing interdisciplinary approach to the treatment of cleft palate, Ruth M. Lencione introduces the subject covering incidence, causes, and classification. Richard B. Stark discusses surgery of the primary pharyngeal flap and E. Harris Nober presents a review of the literature on hearing problems. Aubrey L. Ruess examined…

  12. Effect of cleft palate repair on the susceptibility to contraction-induced injury of single permeabilized muscle fibers from congenitally-clefted goat palates.

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Despite cleft palate repair, velopharyngeal competence is not achieved in ~ 15% of patients, often necessitating secondary surgical correction. Velopharyngeal competence postrepair may require the conversion of levator veli palatini muscle fibers from injury-susceptible type 2 fibers to injury-resi...

  13. A study of the cleft region using synoptic ionospheric plasma data obtained by the polar orbiting satellites Aeros-B and Isis-2

    NASA Technical Reports Server (NTRS)

    Kist, R.; Klumpar, D.

    1980-01-01

    The concentrations of O(+) and NO(+) in the dayside high-latitude cleft region of the ionosphere are investigated based on synoptic particle and plasma measurements obtained by the polar orbiting Aeros-B and Isis-2 satellites. At a time when the orbital planes of the satellites are almost at right angles to each other, three maxima in ion temperature are observed, with two of them accompanied by an increased electron temperature and electron density irregularities, and the density of the molecular ions NO(+) and O2(+) is found to increase at the expense of O(+) density. Results are discussed in terms of a theory relating perpendicular electric fields to oxygen atom reaction rates. Systematic analysis of the Aeros data base reveals 14 additional instances of O(+) to NO(+) conversion, with a large variety of forms and structures reflecting the complex structure and dynamics of the high-latitude dayside ionosphere.

  14. Strategies for treating compensatory articulation in patients with cleft palate.

    PubMed

    Del Carmen Pamplona, Maria; Ysunza, Antonio; Morales, Santiago

    2014-03-01

    Patients with cleft palate frequently show compensatory articulation (CA). CA requires a prolonged period of speech intervention. Some scaffolding strategies can be useful for correcting placement and manner of articulation in these cases. The purpose of this paper was to study whether the use of specific strategies of speech pathology can be more effective if applied according to the level of severity of CA. Ninety patients with CA were studied in two groups. One group was treated using strategies specific for their level of severity of articulation, whereas in the other group all strategies were used indistinctively. The degree of severity of CA was compared at the end of the speech intervention. After the speech therapy intervention, the group of patients in which the strategies were used selectively, showed a significantly greater decrease in the severity of CA, as compared with the patients in whom all the strategies were used indistinctively. An assessment of the severity of CA can be useful for selecting the strategies, which can be more effective for correcting the compensatory errors. PMID:24711749

  15. Rathke's cleft cysts: review of natural history and surgical outcomes.

    PubMed

    Han, Seunggu J; Rolston, John D; Jahangiri, Arman; Aghi, Manish K

    2014-04-01

    Rathke's cleft cysts (RCCs), also known as pars intermedia cysts, represent benign lesions formed from remnants of the embryologic Rathke's pouch. Commonly asymptomatic, they are identified in nearly 1 in 6 healthy volunteers undergoing brain imaging. When symptomatic, they can cause headaches, endocrine dysfunction, and, rarely, visual disturbances. A systematic review of the published English literature was performed focusing on large modern case series of RCCs to describe their natural history, clinicopathologic features, radiographic features, and surgical outcomes, including rates of recurrence. The natural history of asymptomatic RCCs is one of slow growth, suggesting that observation through serial magnetic resonance imaging is appropriate for smaller asymptomatic RCCs. Symptomatic RCCs can be treated by surgical resection with low morbidity, usually through an endonasal transsphenoidal corridor using either a microscope or an endoscope. Surgical treatment frequently provides symptomatic relief of headaches and visual disturbances, and sometimes even improves endocrine dysfunction. Rates of recurrence after surgical treatment range from 16 to 18 % in large series, and higher rates of recurrence are associated with suprasellar location, inflammation and reactive squamous metaplasia in the cyst wall, superinfection of the cyst, and use of a fat graft into the cyst cavity. PMID:24146189

  16. Branchial Cleft-Like Cysts Involving 3 Different Organs

    PubMed Central

    Nakazawa, Tadao; Kondo, Tetsuo; Oishi, Naoki; Tahara, Ippei; Kasai, Kazunari; Inoue, Tomohiro; Mochizuki, Kunio; Katoh, Ryohei

    2015-01-01

    Abstract Branchial cleft cysts (BCCs) are also named lateral cervical cysts and widely acknowledged as being derived from embryonic remnants. Lymphoepithelial cysts (LECs) generally show microscopic features that are identical to those of BCCs, and rarely occur at unusual sites or organs. A case of multiple cysts arising in both lobes of the thyroid gland, thymus, and right parotid gland in a 41-year-old man is reported. Clinically, the patient presented with Hashimoto's thyroiditis for about 20 years and had past histories of idiopathic thrombocytopenic purpura and severe respiratory infection. This case is unusual in that multiple cysts arose synchronously and/or heterochronously and grew, increasing their sizes in these different organs. Microscopic examinations revealed that all of the cysts were composed of squamous epithelium, dense lymphoid tissue with germinal centers, and a fibrous capsule. These findings corresponded to those of BCCs or LECs. It is notable that the histopathological features were nearly the same in the individual organs. A review of the literature disclosed no previous such reported cases. The etiology is unknown. However, based upon the similar histopathological features of all the excised specimens, common immune and/or hematopoietic disorders may have contributed to their occurrence and development in association with putative genetic abnormalities. PMID:26496296

  17. Postoperative analgesia for cleft lip and palate repair in children

    PubMed Central

    Reena; Bandyopadhyay, Kasturi Hussain; Paul, Abhijit

    2016-01-01

    Acute pain such as postoperative pain during infancy was ignored approximately three decades ago due to biases and misconceptions regarding the maturity of the infant's developing nervous system, their inability to verbally report pain, and their perceived inability to remember pain. More recently, these misconceptions are rarely acknowledged due to enhanced understanding of the developmental neurobiology of infant pain pathways and supraspinal processing. Cleft lip and palate is one of the most common congenital abnormalities requiring surgical treatment in children and is associated with intense postoperative pain. The pain management gets further complicated due to association with postsurgical difficult airway and other congenital anomalies. Orofacial blocks like infraorbital, external nasal, greater/lesser palatine, and nasopalatine nerve blocks have been successively used either alone or in combinations to reduce the postoperative pain. Since in pediatric population, regional anesthesia is essentially performed under general anesthesia, association of these two techniques has dramatically cut down the risks of both procedures particularly those associated with the use of opioids and nonsteroidal anti-inflammatory drugs. Definitive guidelines for postoperative pain management in these patients have not yet been developed. Incorporation of multimodal approach as an institutional protocol can help minimize the confusion around this topic. PMID:27006533

  18. Social motivation in individuals with isolated cleft lip and palate

    PubMed Central

    van der Plas, Ellen; Koscik, Timothy R; Conrad, Amy L; Moser, David; Nopoulos, Peg

    2013-01-01

    Social isolation is common among individuals with isolated cleft lip and palate (ICLP), but the available data on why this may be are mixed. We present a novel theory relating to reduced social motivation in ICLP, called the social abulia hypothesis. Based on this hypothesis, we predicted that reduced social motivation would lead to reduced responsiveness to negative social feedback, both in terms of explicit responses and non-controlled, psychophysiological responses. Twenty males with ICLP and 20 normal comparison males (NC group) between 13 and 25 years old participated in the study. Social motivation was examined by measuring participants’ response to negative social feedback (social exclusion). Additionally, psychophysiological reactivity to positive and negative social stimuli was measured. In order to rule out other potential contributors to social isolation, we tested basic social perception, emotion recognition, and social anxiety. In line with the social abulia hypothesis, we show that negative social feedback had less of an effect on males with ICLP relative to healthy male peers, which was evident in explicit responses, and non-controlled, psychophysiological responses to negative social feedback. Our results could not be attributed to problems in social perception, a lack of understanding facial expressions, or increased social anxiety, as groups did not differ on these constructs. This study suggests that current views on social isolation in ICLP may need to be reconsidered to include the possibility that isolation in this population may be the direct result of reduced social motivation. PMID:23634967

  19. Social motivation in individuals with isolated cleft lip and palate.

    PubMed

    van der Plas, Ellen; Koscik, Timothy R; Conrad, Amy L; Moser, David J; Nopoulos, Peg

    2013-01-01

    Social isolation is common among individuals with isolated cleft lip and palate (ICLP), but the available data on why this may be are mixed. We present a novel theory relating to reduced social motivation in ICLP, called the social abulia hypothesis. Based on this hypothesis, we predicted that reduced social motivation would lead to reduced responsiveness to negative social feedback, in terms of both explicit responses and noncontrolled, psychophysiological responses. Twenty males with ICLP and 20 normal comparison males between 13 and 25 years old participated in the study. Social motivation was examined by measuring participants' response to negative social feedback (social exclusion). Additionally, psychophysiological reactivity to positive and negative social stimuli was measured. In order to rule out other potential contributors to social isolation, we tested basic social perception, emotion recognition, and social anxiety. In line with the social abulia hypothesis, we show that negative social feedback had less of an effect on males with ICLP than on healthy male peers, which was evident in explicit responses and noncontrolled, psychophysiological responses to negative social feedback. Our results could not be attributed to problems in social perception, a lack of understanding facial expressions, or increased social anxiety, as groups did not differ on these constructs. This study suggests that current views on social isolation in ICLP may need to be reconsidered to include the possibility that isolation in this population may be the direct result of reduced social motivation. PMID:23634967

  20. Genetics and Management of the Patient with Orofacial Cleft

    PubMed Central

    Brito, Luciano Abreu; Meira, Joanna Goes Castro; Kobayashi, Gerson Shigeru; Passos-Bueno, Maria Rita

    2012-01-01

    Cleft lip or palate (CL/P) is a common facial defect present in 1 : 700 live births and results in substantial burden to patients. There are more than 500 CL/P syndromes described, the causes of which may be single-gene mutations, chromosomopathies, and exposure to teratogens. Part of the most prevalent syndromic CL/P has known etiology. Nonsyndromic CL/P, on the other hand, is a complex disorder, whose etiology is still poorly understood. Recent genome-wide association studies have contributed to the elucidation of the genetic causes, by raising reproducible susceptibility genetic variants; their etiopathogenic roles, however, are difficult to predict, as in the case of the chromosomal region 8q24, the most corroborated locus predisposing to nonsyndromic CL/P. Knowing the genetic causes of CL/P will directly impact the genetic counseling, by estimating precise recurrence risks, and the patient management, since the patient, followup may be partially influenced by their genetic background. This paper focuses on the genetic causes of important syndromic CL/P forms (van der Woude syndrome, 22q11 deletion syndrome, and Robin sequence-associated syndromes) and depicts the recent findings in nonsyndromic CL/P research, addressing issues in the conduct of the geneticist. PMID:23213504

  1. Contractile Properties of Single Permeabilized Muscle Fibers from Congenital Cleft Palates and Normal Palates of Spanish Goats

    PubMed Central

    Hanes, Michael C.; Weinzweig, Jeffrey; Kuzon, William M.; Panter, Kip E.; Buchman, Steven R.; Faulkner, John A.; Yu, Deborah; Cederna, Paul S.; Larkin, Lisa M.

    2009-01-01

    Background Analysis of the composition of muscle fibers constituent to a cleft palate could provide significant insight into the cause of velopharyngeal inadequacy. The authors hypothesized that levator veli palatini muscle dysfunction inherent to cleft palates could affect the timing and outcome of cleft palate repair. Methods Single, permeabilized muscle fibers from levator veli palatini muscles of three normal (n = 19 fibers) and three chemically induced congenital cleft palates (n = 21 fibers) of 14-month-old goats were isolated, and contractile properties were evaluated. The maximum isometric force and rate constants of tension redevelopment (ktr) were measured, and the specific force and normalized power were calculated for each fiber. Results The ktr measures indicate that cleft fibers are predominantly fast-fatigable; normal fibers are slow fatigue-resistant: after a 10-minute isometric contraction, fibers from cleft palates had a loss of force 16 percent greater than that from normal palates (p = 0.0001). The cross-sectional areas of the fibers from cleft palates (2750 ± 209 μm2) were greater (p = 0.05) than those from normal palates (2226 ± 143 μm2). Specific forces did not differ between the two groups. Maximum normalized power of fibers from cleft palates (11.05 ± 1.82 W/l) was greater (p = 0.0001) than fibers from normal palates (1.60 ± 0.12 W/l). Conclusions There are clear physiologic differences in single muscle fibers from cleft palates and normal palates: cleft palate fibers are physiologically fast, have greater fatigability, and have greater power production. Detection of functional and/or fiber type differences in muscles of cleft palates may provide preoperative identification of a patient's susceptibility to velopharyngeal inadequacy and permit early surgical intervention to correct this clinical condition. PMID:17440342

  2. Cellular alterations and enhanced induction of cleft palate after coadministration of retinoic acid and TCDD

    SciTech Connect

    Abbott, B.D.; Birnbaum, L.S. )

    1989-06-15

    2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD) and retinoic acid (RA) are both teratogenic in mice. TCDD is a highly toxic, stable environmental contaminant, while RA is a naturally occurring form of vitamin A. Exposure to TCDD induces hydronephrosis and cleft palate, and exposure to RA induces limb defects and cleft palate. Teratology studies previously have shown that the incidence of clefting is higher after exposure to RA + TCDD than would be observed for the same doses of either compound given alone. This study examines the cellular effects which result in cleft palate, after po administration on gestation Day (GD) 10 or 12 of RA + TCDD in corn oil (10 ml/kg total volume). Exposure on GD 10 to 6 micrograms TCDD + 40 mg RA/kg inhibited early growth of the shelves and clefting was due to a failure of shelves to meet and fuse. This effect on mesenchyme was observed in previous studies to occur after exposure on GD 10 to 40 mg/kg RA alone, but not after TCDD alone. After exposure on GD 12 to 6 micrograms TCDD + 80 mg RA/kg, clefting was due to a failure of shelves to fuse after making contact, because the medial cells differentiated into an oral-like epithelium. This response was observed in previous studies to occur after exposure to TCDD alone, but RA alone on GD 12 resulted in differentiation toward nasal-like cells. The interaction between TCDD and RA results in RA-like clefting after exposure on GD 10 and TCDD-like clefting after exposure on GD 12, and this clefting occurs at higher incidences than would occur after the same levels of either agent alone. After exposure on either GD 10 or 12 to RA + TCDD, the programmed cell death of the medial cells does not occur, and these cells continue to express EGF receptors and to bind 125I-EGF. The effects of RA and TCDD may involve modulation of the cells responses to embryonic growth and differentiation factors.

  3. Attitudes toward children with clefts in rural Muslim and Hindu societies.

    PubMed

    el-Shazly, Mohamed; Bakry, Rania; Tohamy, Ahmed; Ali, Wagdy M; Elbakry, Shewikar; Brown, Shan-Estelle; Weatherley-White, R C A

    2010-06-01

    Many charitable organizations conduct overseas missions to correct cleft lip and palate where surgical care is hard to obtain. However, little is known about genetic backgrounds, cultural and societal attitudes regarding the cleft deformity. A questionnaire has been designed to elicit these attitudes. The questionnaire was administered to 50 families of children with cleft lip seeking care at Operation Smile missions in each of 2 disparate rural communities, one in the state of Gujarat in India and the other in the upper Nile valley in Egypt. Saliva and blood samples were collected from all patients to investigate MSX1, IRF6, PVRL1, MHC class I chain related (MICA), TP73L, MTHFR, TGF-beta3, and RAR alpha genes, within a proposed multinational genetic research project for cleft causation using micro-array and polymerase chain reaction (PCR) methods. All patients had been operated and experienced good results through the follow-up period, which was ranging from 3-24 months. Demographic data defined literacy and educational level; answers established the degree of social isolation, the impact on the family, and the expectations of what surgery would accomplish for the child. Beliefs concerning the causation of the cleft were explored in detail. Knowledge of these issues is important for the more complete care of children in an unfamiliar cultural environment. PMID:20061939

  4. The clinical application of rhBMP-7 for the reconstruction of alveolar cleft.

    PubMed

    Ayoub, Ashraf; Roshan, Cherian P; Gillgrass, Toby; Naudi, Kurt; Ray, Arup

    2016-01-01

    In this study, radiographic assessment was performed to find out the effectiveness of bone regeneration following the application of recombinant human bone morphogenetic protein 7 (rhBMP-7) for the reconstruction of alveolar cleft defects in 11 cases: nine unilateral and two bilateral alveolar clefs. Reconstruction of the alveolar cleft was performed by using 3.5 mg of rhBMP-7 (Osigraft OP1) on a type I collagen carrier. Radiographs were taken 6 months post operation using a Gendex Intraoral Unit with Agfa Dentus M2 Comfort occlusal film. The amount of bony infill was graded on a Kindelan four-point scale. The patients were followed up for an average of 6.6 years. Based on the radiographic analysis, eight out of the nine unilateral alveolar cleft cases received a score of grade I and one patient had a grade II score, using the Kindelan scale. In the two bilateral alveolar clefts, only one side had bone formation. The radiographic appearance showed a normal trabecular pattern similar to the adjacent bone. Thus, rhBMP-7 was radiographically and clinically successful in regenerating the bone at the alveolar cleft which resulted in shortening of the operation time, absence of donor-site morbidity and a shorter hospital stay. The promising results of this preliminary study should encourage a phase II trial to compare bone grafts with BMP for the reconstruction of alveolar defects. PMID:26507862

  5. Constitutively active mutation of ACVR1 in oral epithelium causes submucous cleft palate in mice.

    PubMed

    Noda, Kazuo; Mishina, Yuji; Komatsu, Yoshihiro

    2016-07-15

    Cleft palate is among the most common human birth defects. Submucous cleft palate (SMCP) is a subgroup of cleft palate, which may be as common as overt cleft palate. Despite the high frequency of SMCP in humans, only recently have several animal models of SMCP begun to provide insight into the mechanisms by which SMCP develops. In this study, we show that enhanced BMP signaling through constitutively active ACVR1 in palatal epithelium causes submucous cleft palate in mice. In these mutant mice, the fusion of both palatal mesenchyme in hard palate, and muscles in soft palate were hampered by epithelial tissue. During palatal fusion, enhanced SMAD-dependent BMP signaling impaired cell death and altered cell proliferation rate in medial edge epithelium (MEE), and resulted in MEE persistence. At the molecular level, downregulation of ΔNp63, which is crucial for normal palatal fusion, in MEE cells was impaired, leading to a reduction in caspase-3 activation. Our study provides a new insight into the etiology of SMCP caused by augmented BMP signaling. PMID:26116174

  6. Constitutive Activation of the N-Methyl-d-aspartate Receptor via Cleft-spanning Disulfide Bonds*

    PubMed Central

    Blanke, Marie L.; VanDongen, Antonius M. J.

    2008-01-01

    Although the N-methyl-d-aspartate (NMDA) receptor plays a critical role in the central nervous system, many questions remain regarding the relationship between its structure and functional properties. In particular, the involvement of ligand-binding domain closure in determining agonist efficacy, which has been reported in other glutamate receptor subtypes, remains unresolved. To address this question, we designed dual cysteine point mutations spanning the NR1 and NR2 ligand-binding clefts, aiming to stabilize these domains in closed cleft conformations. Two mutants, E522C/I691C in NR1 (EI) and K487C/N687C in NR2 (KN) were found to exhibit significant glycine- and glutamate-independent activation, respectively, and co-expression of the two subunits produced a constitutively active channel. However, both individual mutants could be activated above constitutive levels in a concentration-dependent manner, indicating that cleft closure does not completely prevent agonist association. Interestingly, whereas the NR2 KN disulfide was found to potentiate channel gating and M3 accessibility, NR1 EI exhibited the opposite phenotype, suggesting that the EI disulfide may trap the NR1 ligand-binding domain in a lower efficacy conformation. Furthermore, both mutants affected agonist sensitivity at the opposing subunit, suggesting that closed cleft stabilization may contribute to coupling between the subunits. These results support a correlation between cleft stability and receptor activation, providing compelling evidence for the Venus flytrap mechanism of glutamate receptor domain closure. PMID:18450751

  7. White Roll Vermilion turn down flap in primary unilateral cleft lip repair: A novel approach

    PubMed Central

    Mishra, R. K.; Agarwal, Amit

    2015-01-01

    Aim: Numerous modifications of Millard's technique of rotation – advancement repair have been described in literature. This article envisions a new modification in Millard's technique of primary unilateral chieloplasty. Material and Methods: Eliminating or reducing the secondary deformities in children with cleft lip has been a motivating factor for the continual refinement of cleft lip surgical techniques through the years. Vermilion notching, visibility of paramedian scars and scar contracture along the white roll are quite noticeable in close-up view even in good repairs. Any scar is less noticeable if it is in midline or along the lines of embryological closure. White Roll Vermilion turn down Flap (WRV Flap), a modification in the Millard's repair is an attempt to prevent these secondary deformities during the primary cleft lip sugery. This entails the use of white roll and the vermilion from the lateral lip segment for augmenting the medial lip vermilion with the final scar in midline at the vermilion. Result: With an experience of more than 100 cases of primary cleft lip repair with this technique, we have achieved a good symmetry and peaking of cupid's bow with no vermilion notching of the lips. Conclusion: WRV flap aims to high light the importance of achieving a near normal look of the cleft patient with the only drawback of associated learning curve with this technique. PMID:26424983

  8. Evolution of my philosophy in the treatment of unilateral cleft lip and palate.

    PubMed

    Brusati, Roberto

    2016-08-01

    At the end of 50-year-long clinical activity, the evolution of my approach to the treatment of unilateral cleft of the lip and palate is discussed. I had several teachers in this field (Rusconi, Reherman, Perko, Delaire, Talmant, Sommerlad and others) and I introduced in my approach what I considered to be improvements from all of them. My current protocol is related to the anatomy of the cleft: for wide clefts a two-stage protocol is applied (1° step: soft palate and lip and nose repair; 2° step: hard palate repair with gingivoalveoloplasty); for narrow cleft (less than 1 cm at the posterior border of hard palate) an "all in one" protocol is performed with or without gingivoalveoloplasty (in accordance to the presence or absence of contact between the stumps at alveolar level). The most important details regarding surgery of the lip and palate are discussed. Robust data collection on speech and skeletal growth is still needed to determine whether the "all in one" approach can be validated as the treatment of choice for unilateral complete lip and palate cleft in selected cases. PMID:27318751

  9. Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability.

    PubMed

    Johansson, Stefan; Berland, Siren; Gradek, Gyri Aasland; Bongers, Ernie; de Leeuw, Nicole; Pfundt, Rolph; Fannemel, Madeleine; Rødningen, Olaug; Brendehaug, Atle; Haukanes, Bjørn Ivar; Hovland, Randi; Helland, Gunnar; Houge, Gunnar

    2014-07-01

    MEIS2 is a homeodomain-containing transcription factor of the TALE superfamily that has been proven important for development. We confirm and extend a recent single clinical report stating that deletions in MEIS2 can cause cleft palate [Crowley et al. (2010); Am J Med Genet 152A:1326-1327]. Here we report on five additional patients with 15q14 deletions of sizes 0.6, 0.6, 1.0, 1.9, and 4.8 Mb, respectively, all involving MEIS2. In addition, we present a family with four affected individuals and an intragenic 58 kb direct duplication disrupting MEIS2. In total, 7/9 cases had clefting, from mild (submucous cleft palate) to severe (cleft lip and palate), and 3/9 cases had ventricular septal defects. All cases had delayed motor development and most had learning disability, at worst in the mild intellectual disability range. The cases had overlapping facial features (broad forehead, finely arched eyebrows, mildly shortened philtrum, and tented upper lip) but individually they were not considered to be dysmorphic. Our results show that MEIS2 is a gene needed for palate closure. In syndromic cases of cleft palate, MEIS2 should be considered among the candidate genes, for example, in cases without 22q11.2 deletions. PMID:24678003

  10. Non-syndromic cleft lip and palate: could stress be a causal factor?

    PubMed

    Wallace, Graeme H; Arellano, Jacinta M; Gruner, Tini M

    2011-03-01

    The aetiology of non-syndromic cleft lip and palate has as yet not been clearly defined. Familial relationships, environmental toxins and nutritional status have all been considered without conclusive results, although in some studies a potential link between non-syndromic cleft lip and palate and any one or more of these factors has been proposed. Elevated stress, particularly an extended term of traumatic stress, can lead to oxidative damage at the cellular level via hypothalamus-pituitary-adrenal (HPA) axis dysregulation, high cortisol and cytokine production. The effect of this hormonal shift is to re-direct the blood supply to the mother's muscles, thereby reducing the supply to the placenta, causing a potential nutritional deficiency which may then result in a genetic alteration in the foetus. Mothers with a child aged two years or younger who had been born with a cleft, who were members of CleftPals, a family support group, volunteered to be participants in this qualitative study. The research first called for a survey to be completed by the mother and this was then followed by an interview conducted by the researcher. The study involved families living in the three eastern States of Australia. The results suggest that physical and/or emotional stress may well be implicated in clefting. While little work has been done in considering stress as a causal factor, the existing literature suggests, as does this study, that elevated stress levels at, or soon after, conception appear to affect foetal development. PMID:20832377

  11. Development and Validation of the Quality-of-Life Adolescent Cleft Questionnaire in Patients With Cleft Lip and Palate

    PubMed Central

    Piombino, Pasquale; Ruggiero, Federica; Dell’Aversana Orabona, Giovanni; Scopelliti, Domenico; Bianchi, Alberto; De Simone, Federica; Carnevale, Nina; Brancati, Federica; Iengo, Maurizio; Grassia, Maria Gabriella; Cataldo, Rosanna; Califano, Luigi

    2014-01-01

    Abstract Only a few reports in the literature have described the use of specific instruments for assessing the quality of life in adolescents and young adults with cleft lip and palate (CLP). This condition markedly affects their lifestyle, even after surgical treatment. In the present study, we aimed to develop a quality-of-life assessment tool specifically designed for such patients with CLP. Our multidisciplinary team created a questionnaire focused on the physical, psychological, and social satisfaction of adolescents and young adults with CLP, which was adapted from 3 dimensions of the 36-item Short-Form Health Survey. The questionnaire was administered to a randomized sample of 40 adolescents and young adults (aged 16–24 years) with CLP who had completed treatment protocols and 40 (aged 16–24 years) who were not affected by CLP. The statistical results stated that the questionnaire had good reliability and validity; the Cronbach α coefficient was found to be 0.944. Moreover, factorial analysis confirmed the presence of 3 subscales that were the fundamental components of this questionnaire, which is consistent with the areas theoretically proposed and from which the items were designed and selected. Thus, we validated our novel questionnaire that was administered in the present study and proved its consistency. However, further investigations on a larger population would be useful to confirm these findings. PMID:25010834

  12. Oral Health in 4-6 Years Children with Cleft Lip/Palate: A Case Control Study

    PubMed Central

    Chopra, Amandeep; Lakhanpal, Manav; Rao, Nanak Chand; Gupta, Nidhi; Vashisth, Shelja

    2014-01-01

    Background: Oro-facial clefts are a major public health problem. Children with clefts rarely escape dental complications. Aims: This study was to determine differences in the dental caries experience, gingival health, and prevalence malocclusion, enamel defects and oral mucosal lesions among 4-6 year old children with and without cleft in Panchkula. Materials and Methods: The sampling frame consisted of 4-6 year old children with clefts visiting Swami Devi Dyal Hospital and Dental College, Panchkula, India. As a control group an age (±3 months) and gender-matched sample from the same geographical areas were recruited. Dental caries status, gingival health status, developmental defect of enamel, malocclusion and oral mucosal health were assessed and compared between the two groups. Results: Significant differences in dental caries and gingival health status were found between children with and without cleft. Anterior open-bite, increased overjet and oral mucosal lesions (P < 0.05) were more prevalent among children with clefts. Children with and without clefts had similar developmental defects of enamel (P > 0.05). Conclusion: Differences of oral health status exist among 4-6 year old children with and without clefts. Children fare worse in terms of dental caries, gingival health, oral mucosal health and malocclusion. PMID:25006561

  13. Methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and nonsyndromic orofacial clefts susceptibility in a southern Chinese population.

    PubMed

    Han, Yue; Pan, Yongchu; Du, Yifei; Tong, Na; Wang, Meilin; Zhang, Zhengdong; Wan, Linzhong; Wang, Lin

    2011-12-01

    Nonsyndromic orofacial clefts (NSOC) are one of the most common congenital anomalies in humans. Great efforts have been taken to unravel its genetic background. Methylenetetrahydrofolate reductase (MTHFR) is an important enzyme in folate metabolism and two of its functional polymorphisms, MTHFR C677T and MTHFR A1298C, might be associated with NSOC susceptibility. The aim of the present study was to investigate their associations with risks of NSOC in a southern Chinese population. We found that MTHFR 677 TT and 677 CT/TT were associated with increased risk of cleft lip with or without cleft palate; meanwhile, MTHFR 1298 AC and 1298 AC/CC had protective effects against cleft lip with or without cleft palate. In further stratified analysis, we found that MTHFR 677 CT contributed to elevated risk of cleft lip only, as did MTHFR 677 CT/TT. On the contrary, MTHFR 1298 AC and 1298 AC/CC appeared to be protective against cleft lip with cleft palate. These results suggested that these two polymorphisms were involved in the development of NSOC in a southern Han Chinese population. PMID:21612398

  14. The Impact of Early Infant Jaw-Orthopaedics on Early Speech Production in Toddlers with Unilateral Cleft Lip and Palate

    ERIC Educational Resources Information Center

    Lohmander, Anette; Lillvik, Malin; Friede, Hans

    2004-01-01

    The purpose of study was to investigate the impact of pre-surgical Infant Orthopaedics (IO) on consonant production at 18 months of age in children with Unilateral Cleft Lip and Palate (UCLP) and to compare the consonant production to that of age-matched children without clefts. The first ten children in a consecutive series of 20 with UCLP…

  15. Spectral Analysis of Word-Initial Alveolar and Velar Plosives Produced by Iranian Children with Cleft Lip and Palate

    ERIC Educational Resources Information Center

    Eshghi, Marziye; Zajac, David J.; Bijankhan, Mahmood; Shirazi, Mohsen

    2013-01-01

    Spectral moment analysis (SMA) was used to describe voiceless alveolar and velar stop-plosive production in Persian-speaking children with repaired cleft lip and palate (CLP). Participants included 11 children with bilateral CLP who were undergoing maxillary expansion and 20 children without any type of orofacial clefts. Four of the children with…

  16. Contraction-induced injury to single permeabilized muscle fibers from normal and congenitally-clefted goat palates

    Technology Transfer Automated Retrieval System (TEKTRAN)

    A goat model in which cleft palate is induced by the plant alkaloid, anabasine was used to determine muscle fiber integrity of the levator veli palatine (LVP) muscle. It was determined that muscle fiber type, size, and sensitivity to contraction-induced injury was different between cleft palate ind...

  17. Contractile properties of single permeabilized muscle fibers from congenital cleft palates and normal palates of Spanish goats

    Technology Transfer Automated Retrieval System (TEKTRAN)

    A goat model in which cleft palate is induced by the plant alkaloid, anabasine was used to determine muscle fiber integrity of the levator veli palatine muscle. It was determined that the muscle fibers of the cleft palate-induced goats were primarily of the type 2 (fast fibers) which fatigue easil...

  18. Development of the Object Permanence Concept in Cleft Lip and Palate and Noncleft Lip and Palate Infants.

    ERIC Educational Resources Information Center

    Pecyna, Paula M.; And Others

    1987-01-01

    The development of the concept of object permanence was investigated with eight infants with cleft lip/palate and four nonimpaired infants. Superior performance of the cleft lip/palate group was found, possibly due to increased environmental stimulation provided by parents. (DB)

  19. The Correlation between Maternal Exposure to Air Pollution and the Risk of Orofacial Clefts in Infants: a Systematic Review and Meta-Analysis

    PubMed Central

    Rao, Ajit; Ahmed, Mairaj K.; Taub, Peter J.

    2016-01-01

    ABSTRACT Objectives The authors performed a systematic review and meta-analysis to investigate the possible correlation between ambient air pollution and orofacial cleft anomalies in newborns. Material and Methods A literature search was performed using the PubMed and Google Scholar, using the keywords “air pollution”, “cleft lip”, “cleft palate”, “carbon monoxide”, “ozone”, “sulfur dioxide”, “nitrogen oxide”, “nitrogen dioxide”, and “aerodynamic diameter”. Eight epidemiologic articles met the criteria of correlating either carbon monoxide (CO), ozone (O3), nitrogen oxides (NOx), airborne particulate matter of less than 10 µm in diameter (PM10), or sulfur dioxide (SO2) exposures with clefting of the palate alone, clefting of the lip alone, or clefting of the lip and palate. Odds ratios were extracted from the eight studies and tabulated in this meta-analysis. Quality analysis showed six high quality, one medium quality, and one low quality study. Results Meta-analysis of the combined data confirmed the association of O3 exposure and risk of orofacial cleft anomalies (OR = 1.08; P = 0.02). NOx was consistently associated with decreased risk of cleft lip with or without palate and cleft palate. Conclusions Ozone showed the strongest correlation with cleft lip and cleft palate anomalies. However, the studies overall showed an inconsistent correlation between orofacial clefts and air pollutants. PMID:27099696

  20. Complete sternal cleft — A rare congenital malformation and its repair in a 3-month-old boy: A case report

    PubMed Central

    Kothari, Paras; Gupta, Abhaya; Patil, Prashant S.; Kekre, Geeta; Kamble, Ravi; Dikshit, Kiran Vishesh

    2016-01-01

    Complete midline sternal cleft is a rare congenital anomaly resulting from failed midline ventral fusion of the sternal bars. Very few cases of complete sternal cleft have been described in literature. We present a case of complete sternal cleft in a 3-month-old child. The patient underwent primary closure of the defect using stainless steel wires. PMID:27046980

  1. The Effect of Cleft Lip and Palate, and the Timing of Lip Repair on Mother-Infant Interactions and Infant Development

    ERIC Educational Resources Information Center

    Murray, Lynne; Hentges, Francoise; Hill, Jonathan; Karpf, Janne; Mistry, Beejal; Kreutz, Marianne; Woodall, Peter; Moss, Tony; Goodacre, Tim

    2008-01-01

    Background: Children with cleft lip and palate are at risk for psychological problems. Difficulties in mother-child interactions may be relevant, and could be affected by the timing of lip repair. Method: We assessed cognitive development, behaviour problems, and attachment in 94 infants with cleft lip (with and without cleft palate) and 96…

  2. An Analysis of the Frame-Content Theory in Babble of 9-Month-Old Babies with Cleft Lip and Palate

    ERIC Educational Resources Information Center

    Stout, Gwendolyn; Hardin-Jones, Mary; Chapman, Kathy L.

    2011-01-01

    The aim of this study was to examine the consonant-vowel co-occurrence patterns predicted by the Frame-Content theory in 16 nine-month-old babies with unrepaired cleft palate ([plus or minus]cleft lip) and 16 age-matched non-cleft babies. Babble from these babies was phonetically transcribed and grouped according to the intrasyllabic predictions…

  3. Parabolic heavy ion flow in the polar magnetosphere

    NASA Technical Reports Server (NTRS)

    Horwitz, J. L.

    1987-01-01

    Recent observations by the Dynamics Explorer 1 satellite over the dayside polar cap magnetosphere have indicated downward flows of heavy ions such as O(+), O(2+), N(+), and N(2+) with flow velocities of the order 1 km/s (Lockwood et al., 1985). These downward flows were interpreted as the result of 'parabolic' flow of these heavy ionospheric ions from a source region associated with the polar cleft topside ionosphere. Here, a two-dimensional kinetic model is utilized to elicit features of the transport of very low energy O(+) ions from the cleft ionosphere. Bulk parameter (density, flux, thermal energies, etc.) distributions in the noon-midnight meridian plane illustrate the effects of varying convection electric fields and source energies. The results illustrate that, particularly under conditions of weak convection electric fields and weak ion heating in the cleft region, much of the intermediate altitude polar cap magnetosphere may be populated by downward flowing heavy ions. It is further shown how two-dimensional transport effects may alter the characteristic vertical profiles of densities and fluxes from ordinary profiles computed in one-dimensional steady-state models.

  4. Secondary rhinoplasty using flying-bird and vestibular tornado incisions for unilateral cleft lip patients.

    PubMed

    Matsuya, Tokuzo; Iida, Seiji; Kogo, Mikihiko

    2003-08-01

    To correct the nasal deformity in cleft lip patients, a new procedure of open rhinoplasty using a "flying-bird" incision in the nostril tip with a vestibule "tornado"-shaped incision in the cleft side is presented. The newly designed vestibular incision produces effective vestibular advancement with the freed lower lateral cartilage. The flying-bird incision makes it possible to produce a suitable nostril tip appearance with symmetrical external nostril vestibules. If the vestibular defect after flap advancement is wide, a full-thickness skin graft is used to give priority for making a good external nostril shape. This procedure is useful for most cleft lip noses, particularly in cases of moderate to severe deformity. PMID:12900595

  5. Introduction of "Papazian Pusher: " A Modified-Design Knot Pusher for Surgical Repair of Cleft Palates.

    PubMed

    Papazian, Nazareth J; Chahine, Fadl; Atiyeh, Bishara; Deeba, Samer; Zgheib, Elias; Abu-Sittah, Ghassan

    2015-09-01

    Tying sutures is an integral aspect of any surgery and reliable instruments are essential for hassle-free procedures including craniofacial surgeries. Knot pushers have been widely known for their application in various laparoscopic, arthroscopic, and anal surgeries. The literature reveals numerous articles pertaining to knot pushers, as well as improvements on existing designs. Nevertheless, no application of knot pushers in the surgical repair of cleft palates has been described. We describe a new knot pusher "Papazian Pusher" (PP) finely designed for application in oral surgeries in general and repair of cleft palates in particular. The instrument was used satisfactorily in repair of cleft palate surgeries and no complications were encountered. The PP was found, overall, to be easy to use, and helps in performing faster, stronger, smooth, and secure knots. PMID:26355980

  6. The developmental characteristics of mastoid pneumatisation in cleft palate children: the genetic influence.

    PubMed

    Srzentić, Mladen; Handzić, Jadranka; Trotić, Robert

    2012-09-01

    Physiologic and developmental role of mastoid pneumatisation in children with otitis media with effusion (OME) is still controversial. For measuring mastoid pneumatisation and examine developmental characteristics, we used children with orofacial malformation of high risk for long term negative pressure in the middle ear and are expected to have lower rate of size and growth of pneumatisation. Mastoid were measured on Schuller's mastoid X-ray pictures planimetrically in study group of 146 children with bilateral (BCLP), unilateral (UCLP) and isolated (ICP) cleft palate, and control group of non-cleft 52 children, both groups with confirmed otitis media with effusion and no previous otological surgery. The lowest pneumatisation found in BCLE, BCLP and UCLP showed no growth of mastoid with age and lower mastoid size than OME controls. ICP is the only cleft type with growth of mastoid with aging. OME patients has the highest size of mastoid and growth rate with aging. PMID:23213949

  7. "The open sky rhinoplasty" for correction of secondary cleft lip nose deformity, Technique and recent results.

    PubMed

    Tschopp, H M

    1988-01-01

    The typical nose deformity after cleft-lip repair still represents great challenge for the plastic surgeon in this field. Many methods have been designed in attempts to correct the deformity, either during primary closure of the lip or as a secondary procedure when growth of the nose is complete. In this paper the author's own technique of secondary rhinoseptoplasty in cleft-lip patients is presented. The different cartilaginous and osseous structures are approached through a transcolumellar incision and the skin of the nose completely reflected upwards. This so-called "open sky view" gives a total perspective on the entire pathology of the cleft-lip nose deformity and makes it possible to correct it accordingly. Emphasis is put on some important surgical manoeuvers. Recent results are presented and the pros and cons of this procedure discussed. PMID:3187450

  8. Receptor-dependent mechanisms of glucocorticoid and dioxin-induced cleft palate

    SciTech Connect

    Pratt, R.M.

    1985-09-01

    Glucocorticoids (triamcinolone) and dioxins (TCDD) are highly specific teratogens in the mouse, in that cleft palate is the major malformation observed. Glucocorticoids and TCDD both readily cross the yolk sac and placenta and appear in the developing secondary palate. Structure-activity relationships for glucocorticoid- and TCDD-induced cleft palate suggest a receptor involvement. Receptors for glucocorticoids and TCDD are present in the palate and their levels in various mouse strains are highly correlated with their sensitivity to cleft palate induction. Receptors for glucocorticoids appear to be more prevalent in the palatal mesenchymal cells whereas those for TCDD are probably located in the palatal epithelial cells. Glucocorticoids exert their teratogenic effect on the palate by inhibiting the growth of the palatal mesenchymal cells whereas TCDD alters the terminal cell differentiation of the media palatal epithelial cells. 71 references.

  9. Association between alleles of the transforming growth factor alpha locus and cleft lip and palate in the Chilean population

    SciTech Connect

    Jara, L.; Blanco, R.; Chiffelle, I.

    1995-07-17

    Two RFLPs at the TGFA locus were studied in 39 unrelated Chilean (Caucasoid-Mongoloid) patients with non-syndromic cleft lip/palate [CL(P)] and 51 control individuals. A highly significant association between BamHI A2 allele and CL(P) was detected ({chi}{sub 2} = 6.00; P = 0.014), while no association was found between TaqI RFLPs and clefting. No significant differences were found when comparing genotypes by type of cleft and a positive or negative family history of clefting. Our results seem to support rather definitively the association between TGFA and clefting but not support the hypothesis that TGFA is a major causal gene of CL(P). 29 refs., 5 tabs.

  10. Prevention of oro-facial clefts in developing world

    PubMed Central

    Oginni, Fadekemi O.; Adenekan, Anthony T.

    2012-01-01

    Oro-facial cleft (OFC) remains a prominent health issue in developed and developing countries alike. It is the commonest craniofacial birth defect in humans. Mounting evidence suggest a polygenic, multifactorial and a list of epigenetic events. Primary prevention of OFC is based on recognition of the etiologic and risk factors. While a number of preventive strategies are in place for OFC in most developed countries of the world, the majority of developing countries are distant from achieving this goal for a number of reasons. Notable among these are a huge knowledge and practice gap in the field of genetics and dearth of accurate data. In addition, improper coordination and absenteeism from antenatal care contributed greatly to this set back. With ongoing efforts aimed at determining the genetics of nonsyndromic OFC in developing countries, researches directed at identifying environmental factors should equally be in place. Pending the outcome of these, implicated environmental and attitudinal risk factors in other populations could serve as preventive template in health education and interventions. Since risk factors vary between populations, definitive and effective preventive strategies and models would vary from place to place and from time to time. Frantic effort directed at identifying specific implicated risk factors in developing countries should include developing and keeping comprehensive national perinatal database and centralization of antenatal care protocol. Additionally, active health education at every level and a focus on developing manpower in the field of genetics should be in place. These would be designed and tailored toward identified, proven, and emerging risk factors. PMID:23482510

  11. Percutaneous balloon kyphoplasty of osteoporotic vertebral compression fractures with intravertebral cleft

    PubMed Central

    Chen, Bao; Fan, Shunwu; Zhao, Fengdong

    2014-01-01

    Background: Intravertebral cleft is a structural change in osteoporotic vertebral compression fractures (OVCF), which is the manifestation of ischemic vertebral osteonecrosis complicated with fracture nonunion and pseudoarthrosis and appears in the late stage of OVCF. Despite numerous studies on OVCF, few aim to evaluate the clinicoradiological characteristics and clinical significance of intravertebral cleft in OVCF. This study investigates clinicoradiological characteristics of intravertebral cleft in OVCF and the effect on the efficacy of percutaneous balloon kyphoplasty (PKP). Materials and Methods: PKP was performed on 139 OVCF patients without intravertebral cleft (group A) and 44 OVCF patients with intravertebral cleft (group B). The frequency distribution of the affected vertebral body, bone cement infusion volume, imaging manifestation, leakage rate and type, preoperative and postoperative height of the affected vertebral body, visual analog scale (VAS) and Oswestry disability index (ODI) score were evaluated. Results: Significant differences were found in the frequency distribution of the affected vertebral body and bone cement leakage type between the two groups (P < 0.05). However, differences in bone cement infusion volume and leakage rate (P > 0.05) were not detected. In both groups, the postoperative height of the affected vertebral body was significantly improved (P < 0.05). The restoration of vertebral body height in group B was more evident than that in group A (P < 0.05). The preoperative VAS and ODI scores in group B were significantly higher than those in group A (P < 0.05). After surgical treatment, pain relief and daily activity function in both groups were significantly improved (P < 0.05), and no significant difference in postoperative scores was detected between the two groups (P > 0.05). Conclusion: Intravertebral cleft exhibits specific clinical and imaging as well as bone cement formation characteristics. PKP can effectively restore the

  12. MATERNAL OCCUPATIONAL EXPOSURE TO POLYCYCLIC AROMATIC HYDROCARBONS AND RISK OF ORAL CLEFT-AFFECTED PREGNANCIES

    PubMed Central

    Langlois, Peter H; Hoyt, Adrienne T; Lupo, Philip J; Lawson, Christina C; Waters, Martha A; Desrosiers, Tania A; Shaw, Gary M; Romitti, Paul A; Lammer, Edward J

    2014-01-01

    Objective Evaluate whether there is an association between maternal occupational exposure to polycyclic aromatic hydrocarbons (PAHs) and oral cleftsin offspring. This is the first human study of PAHs and clefts of which the authors are aware. Design Case-control study. Setting, Participants Data for 1997–2002 from the National Birth Defects Prevention Study, a large population-based case-control study in the US, were analyzed. Maternal telephone interviews yielded information on jobs held in the month before through three months after conception. Two industrial hygienists independently assessed occupational exposure to PAHs ; all jobs rated as exposed or with rating difficulty were reviewed with a third industrial hygienist to reach consensus on all exposure parameters. Logistic regression estimated crude and adjusted odds ratios (ORs) with 95% confidence intervals (CIs) for cleft lip with or without cleft palate (CL±P) and cleft palate alone (CP). Results There were 2989 controls( 3.5% exposed), 805 cases of CL±P (5.8% exposed) and 439 cases of CP (4.6% exposed). The odds of maternal occupational exposure to PAH (any vs none) during pregnancy was increased for CL±P cases as compared with controls (OR 1.69, 95% CI 1.18–2.40); the OR was 1.47 (95% CI 1.02–2.12) adjusted for maternal education. There was a statistically significant adjusted exposure-response relationship for CL±P (ptrend = 0.02). ORs for CP were not statistically significant. Conclusions Maternal occupational exposure to PAHs was associated with increased risk of cleft lip with or without cleft palate in offspring. PMID:23136939

  13. Electrophysiological assessment of auditory processing disorder in children with non-syndromic cleft lip and/or palate

    PubMed Central

    McPherson, Bradley; Ma, Lian

    2016-01-01

    Objectives Cleft lip and/or palate is a common congenital craniofacial malformation found worldwide. A frequently associated disorder is conductive hearing loss, and this disorder has been thoroughly investigated in children with non-syndromic cleft lip and/or palate (NSCL/P). However, analysis of auditory processing function is rarely reported for this population, although this issue should not be ignored since abnormal auditory cortical structures have been found in populations with cleft disorders. The present study utilized electrophysiological tests to assess the auditory status of a large group of children with NSCL/P, and investigated whether this group had less robust central auditory processing abilities compared to craniofacially normal children. Methods 146 children with NSCL/P who had normal peripheral hearing thresholds, and 60 craniofacially normal children aged from 6 to 15 years, were recruited. Electrophysiological tests, including auditory brainstem response (ABR), P1-N1-P2 complex, and P300 component recording, were conducted. Results ABR and N1 wave latencies were significantly prolonged in children with NSCL/P. An atypical developmental trend was found for long latency potentials in children with cleft compared to control group children. Children with unilateral cleft lip and palate showed a greater level of abnormal results compared with other cleft subgroups, whereas the cleft lip subgroup had the most robust responses for all tests. Conclusion Children with NSCL/P may have slower than normal neural transmission times between the peripheral auditory nerve and brainstem. Possible delayed development of myelination and synaptogenesis may also influence auditory processing function in this population. Present research outcomes were consistent with previous, smaller sample size, electrophysiological studies on infants and children with cleft lip/palate disorders. In view of the these findings, and reports of educational disadvantage associated

  14. Treatment of cleft lip and palate during the Revolutionary war: bicentennial reflections.

    PubMed

    Rogers, B O

    1976-10-01

    Cleft palate surgery was not performed either in Europe or in America during the time of America's Revolutionary War. Cleft lip surgery was performed by the pinning and figure-of-eight thread method of closure in keeping with current European teachings on the subjects. This surgery was frequently performed by itinerant mendicants, charlatans, and also by the more legitimate members of the surgical community living in the 13 states at the time of the Revolution. A brief review of the surgical methods employed form the major portion of the article. PMID:786505

  15. Bilateral cleft lip and palate, hypertelorism with agenesis of corpus callosum.

    PubMed

    Balaji, S M

    2016-01-01

    Agenesis of corpus callosum (ACC) can have various development abnormalities spectrum. These include delay in milestones to complex neuropsychiatric manifestations. Following case report highlights the case of a young infant presenting with associated features including bilateral cleft lip and palate and hypertelorism. The kid was refused treatment at several centers owing to the central nervous system abnormality. This case reports highlight the ACC as a comorbid diagnosis in cleft lip and palate patient with hypertelorism perhaps owing to ignorance and fear of this apparently innocuous congenital malformation. PMID:27054869

  16. Transient thyrotoxicosis accompanied by panhypopituitarism caused by ruptured Rathke's cleft cyst.

    PubMed

    Chung, Jin Ook; Cho, Dong Hyeok; Chung, Dong Jin; Chung, Min Young

    2011-01-01

    We describe a rare case of transient thyrotoxicosis secondary to painless thyroiditis accompanied by panhypopituitarism caused by ruptured Rathke's cleft cyst. A 32-year-old man presented with vomiting and diarrhea. Laboratory data showed that he had transient hypercalcemia, primary thyrotoxicosis due to painless thyroiditis and panhypopituitarism. The sellar magnetic resonance imaging showed cystic macroadenoma. He underwent surgical exploration. Histological examination showed a ruptured Rathke's cleft cyst. Our case suggests that, although rare, it is important to recognize the possibility of coexistence of hypopituitarism in patients with primary thyrotoxicosis. PMID:22185992

  17. Unusual case of concomitant occurrence of Tessier's number 7 cleft and dentigerous cyst

    PubMed Central

    Issar, Yuvraj; Kaushal, Nitin; Goomer, Pallvi

    2014-01-01

    Dentigerous cysts are commonly encountered associated with impacted teeth; however the exact histogenesis of these cysts is not known even though numerous theories have been proposed. Majority of the maxillary cysts arise as a result of defect in the embryonal development, which can be either abnormal fusion of facial processes or as a result of abnormality in the development of dental follicle. Congenital Tessier's number 7 unilateral facial cleft is a rare anomaly, which arises as a result of defect in the fusion of facial processes. We report an unusual case of concomitant occurrence of Tesssier's number 7 cleft and maxillary dentigerous cyst in 11-year-old child. PMID:25191083

  18. Evaluation of hydroxylapatite particles in repair of alveolar clefts in dogs.

    PubMed

    Cullum, P E; Frost, D E; Newland, T B; Keane, T M; Ehler, W J

    1988-04-01

    Twelve adult mongrel dogs were used to evaluate the use of hydroxylapatite (HA) in the closure of alveolar clefts. Bilateral alveolar clefts were surgically created in each animal. After healing, they were implanted randomly with either HA or particulate cancellous bone and marrow (PCBM). The results were evaluated clinically, radiographically, and histologically for healing, acceptance of the implant, closure of the fistula, and bony ingrowth. The results show that HA was as successful in closure of the fistulas and re-establishing an intact maxilla as PCBM. Minimal osteoid and bone was interspersed in the HA implant sites. No complications resulted from the HA graft. PMID:2834525

  19. First Branchial Cleft Fistula Associated with External Auditory Canal Stenosis and Middle Ear Cholesteatoma

    PubMed Central

    Abdollahi fakhim, Shahin; Naderpoor, Masoud; Mousaviagdas, Mehrnoosh

    2014-01-01

    Introduction: First branchial cleft anomalies manifest with duplication of the external auditory canal. Case Report: This report features a rare case of microtia and congenital middle ear and canal cholesteatoma with first branchial fistula. External auditory canal stenosis was complicated by middle ear and external canal cholesteatoma, but branchial fistula, opening in the zygomatic root and a sinus in the helical root, may explain this feature. A canal wall down mastoidectomy with canaloplasty and wide meatoplasty was performed. The branchial cleft was excised through parotidectomy and facial nerve dissection. Conclusion: It should be considered that canal stenosis in such cases can induce cholesteatoma formation in the auditory canal and middle ear. PMID:25320705

  20. Rehabilitation of an Edentulous Maxilla in a Patient with Isolated Cleft Palate.

    PubMed

    Valizadeh, Bardia; Barzanji, S Agrin; Patel, Mital; Shahdad, Shakeel

    2016-04-01

    This article aims to discuss the use of short dental implants in cleft patients, the construction of an implant-retained obturator and the use of a Createch milled titanium bar with three Locator overdenture attachments incorporated within the bar. CPD/Clinical Relevance: Implant-retained obturators offer a possible solution for treating patients with isolated cleft palate who are struggling with dentures due to the unfavourable soft and hard tissue profile. This paper demonstrates how to manage such patients and shows all the clinical and laboratory stages involved. PMID:27439268

  1. Skeletal facial balance and harmony in the cleft patient: Principles and techniques in orthognathic surgery

    PubMed Central

    Salyer, Kenneth E.; Xu, Haisong; Portnof, Jason E.; Yamada, Akira; Chong, David K.; Genecov, Edward R.

    2009-01-01

    The management of the palatal cleft, dental arch, and subsequent maxillary form is a challenge for the craniomaxillofacial surgeon. The purpose of this paper is to present the experience of a senior surgeon (KES) who has treated over 2000 patients with cleft lip and palate. This paper focuses on the experience of a recent series of 103 consecutive orthognathic cases treated by one surgeon with a surgical-orthodontic, speech-oriented approach. It will concentrate on not only correcting the occlusion, as others have described, but also on how a surgeon who was trying to achieve optimal aesthetic balance, harmony, and beauty, approached this problem. PMID:19884671

  2. A computer-aided method of measuring nasal symmetry in the cleft lip nose.

    PubMed

    Coghlan, B A; Laitung, J K; Pigott, R W

    1993-01-01

    Objective assessment of the results of cleft lip and nose surgery is necessary to quantify differences between alternative surgical techniques. A previously described method of measuring facial asymmetry has been modified to allow a comparison of differently treated cleft noses (radical nasal correction versus no nasal correction). Standardised, inferior view photographs of 10-year-olds were obtained from patient records. These were projected, traced, digitised and analysed using a BBC microcomputer. A method of excluding the ill-defined nasal baseline by obtaining a mirror-image of the upper nasal perimeter is described. The method has a high degree of inter and intra observer reproducibility. PMID:8503955

  3. The Maurer's clefts of Plasmodium falciparum: parasite-induced islands within an intracellular ocean.

    PubMed

    Przyborski, Jude M

    2008-07-01

    It is suggested that Maurer's clefts, membranous structures observed within the cytoplasm of Plasmodium-falciparum-infected human erythrocytes, play an important role in trafficking virulence proteins from the parasite to the surface of the host cell. How they fulfil this role, however, still is unclear. A recent study by Bhattacharjee et al. now suggests that the clefts function as the major conduit through which parasite-encoded proteins pass before entering the host cell. In this article we comment on the significance of this information in our understanding of the novel 'extracellular' secretory pathway of this important human pathogen. PMID:18514031

  4. Evidence, from family studies, for linkage disequilibrium between TGFA and a gene for nonsyndromic cleft lip with or without cleft palate

    SciTech Connect

    Feng, Hongshu; Lee, A.; Gasser, D.L.; Sassani, R.; Bartlett, S.P.; Buetow, K.H.; Hecht, J.T.; Malcolm, S.; Winter, R.M.; Vintiner, G.M.

    1994-11-01

    The inheritance of alleles of the transforming growth factor alpha (TGFA) locus has been studied in families affected with cleft lip with or without cleft palate (CL/P), by using the transmission/disequilibrium test described by Spielman and colleagues. Only heterozygous parents with an affected child can be included in this test, but within such families a significantly greater frequency of C2 alleles were transmitted to affected children than would be expected by chance. There was no evidence that the total number of C2 alleles transmitted to affected and unaffected children differed significantly from random segregation. These data provide evidence from within families that a gene for susceptibility to CL/P is in significant linkage disequilibrium with the C2 allele of the TGFA locus. 30 refs., 1 fig., 2 tabs.

  5. Perioperative respiratory complications in cleft lip and palate repairs: An audit of 1000 cases under ‘Smile Train Project’

    PubMed Central

    Kulkarni, Kalpana R; Patil, Mohan R; Shirke, Abasaheb M; Jadhav, Shivaji B

    2013-01-01

    Background and Aim: Anaesthesia for cleft surgery in children is associated with a variety of airway related problems. This study aims to review the frequency of associated anomalies and other conditions as well as perioperative respiratory complications during the cleft lip/palate repair surgeries. Methods: An audit of 1000 cleft surgeries in children enrolled under “Smile Train” is presented. Following informed consent, general anaesthesia was induced with endotracheal (ET) intubation using halothane in O2 and/or intravenous thiopentone 5 mg/kg or propofol 1.5 mg/kg, suxamethonium 1.5 mg/kg or rocuronium 0.8 mg/kg and maintained with halothane/isoflurane 0.4-1% in 50% N2O in O2 with rocuronium. The observational data regarding the occurrence of perioperative complications in 1000 cleft surgeries are mentioned as mean (standard deviation), number and percentage as appropriate. ‘Two sample t-test between percentage’ is applied for significance. Results: The frequency of isolated cleft lip was 263 (36.4%), cleft palate 183 (25.3%) and combined defect 277 (38.3%) of the operated cases. Other congenital anomalies were present in 21 (2.8%) of the children. The intraoperative airway complications occurred in 13 (2.4%) of cleft lip and 40 (8.7%) of cleft palate repairs (P < 0.05). Post-operative respiratory complications were observed in 9 (1.7%) and 34 (7.4%) patients of cleft lip and palate repairs respectively (P < 0.05). Mortality occurred post-operatively in 2 (0.2%) of cleft repairs (n = 1000). Conclusion: Cleft deformities in children when associated with other congenital anomalies or respiratory problems pre-dispose them to difficult airway and pulmonary complications. Frequency of perioperative respiratory complications were significantly higher with cleft palate repair than with cleft lip repair. Anaesthetic expertise, optimum monitoring facility and specialised post-operative care is necessary to decrease the morbidity. PMID:24403615

  6. The 19-bp deletion polymorphism of dihydrofolate reductase (DHFR) and nonsyndromic cleft lip with or without cleft palate: evidence for a protective role

    PubMed Central

    RAFIGHDOOST, Firoozeh; RAFIGHDOOST, Amir; RAFIGHDOOST, Houshang; RIGI-LADEZ, Mohammad-Ayoob; HASHEMI, Mohammad; ESKANDARI-NASAB, Ebrahim

    2015-01-01

    Objective Nonsyndromic cleft lip with or without cleft palate (NS-CL/P) are among the most common congenital birth defects worldwide. Several lines of evidence point to the involvement of folate, as well as folate metabolizing enzymes in risk reduction of orofacial clefts. Dihydrofolate reductase (DHFR) enzyme participates in the metabolic cycle of folate and has a crucial role in DNA synthesis, a fundamental feature of gestation and development. A functional polymorphic 19-bp deletion within intron-1 of DHFR has been associated with the risk of common congenital malformations. The present study aimed to evaluate the possible association between DHFR 19-bp deletion polymorphism and susceptibility to NS-CL/P in an Iranian population. Material and Methods The current study recruited 100 NS-CL/P patients and 100 healthy controls. DHFR 19-bp deletion was determined using an allele specific-PCR method. Results We observed the DHFR 19-bp homozygous deletion genotype (D/D) vs. homozygous wild genotype (WW) was more frequent in controls than in NS-CL/P patients (25% vs. 13%), being associated with a reduced risk of NS-CL/P in both codominant (OR=0.33, P=0.027) and recessive (OR=0.45, P=0.046) tested inheritance models. We also stratified the cleft patients and reanalyzed the data. The association trend for CL+CL/P group compared to the controls revealed that the DD genotype in both codominant (OR=0.30, P=0.032) and recessive models (OR=0.35, P=0.031) was associated with a reduced risk of CL+CL/P. Conclusions Our results for the first time suggested the DHFR 19-bp D/D genotype may confer a reduced risk of NS-CL/P and might act as a protective factor against NS-CL/P in the Iranian subjects. PMID:26221921

  7. A survey of upwelling ion event characteristics

    NASA Technical Reports Server (NTRS)

    Pollock, C. J.; Chandler, M. O.; Moore, T. E.; Chappell, C. R.; Waite, J. H., Jr.

    1990-01-01

    Quasi-static electric field data collected by the DE-1 spacecraft were used to study ionospheric ion upwelling events observed in the vicinity of the dayside cleft. Bulk plasma parameters such as ion-species density and field-aligned bulk velocity and flux were derived at points within several upwelling ion events for the H(+), He(+), O(+), and O(2+), and the ion-species bulk parameters near the source altitude were compared. It was found that O(+) ions comprise about 90 percent of the upwelling particle density, followed by H(+) at less than 10 percent; He(+) and O(2+) contribute about 1 percent each. The upwelling O(+) flux is also dominant, followed by upward H(+) flux, which is relatively more significant than the fractional H(+) density, due to its high upward flow velocity.

  8. Association study between Van der Woude Syndrome causative gene GRHL3 and nonsyndromic cleft lip with or without cleft palate in a Chinese cohort.

    PubMed

    Wang, Yirui; Sun, Yimin; Huang, Yongqing; Pan, Yongchu; Jia, Zhonglin; Ma, Lijuan; Ma, Lan; Lan, Feifei; Zhou, Yuxi; Shi, Jiayu; Yang, Xiong; Zhang, Lei; Jiang, Hongbing; Jiang, Min; Yin, Aihua; Cheng, Jing; Wang, Lin; Yang, Yinxue; Shi, Bing

    2016-08-15

    Cleft lip with or without cleft palate (CL/P) is one of the most common birth defects worldwide and is characterized by abnormalities of the orofacial structure. Syndromic CL/P is mainly caused by Mendelian disorders such as Van der Woude Syndrome (VWS). However, >70% of CL/P cases are nonsyndromic, characterized by isolated orofacial cleft without any known syndrome. The etiology of nonsyndromic CL/P (NSCL/P) remains elusive, but it has been suggested that causative genes of syndromic CL/P might also contribute to NSCL/P. As such, the VWS causative gene IRF6 has been extensively studied in NSCL/P. Recently, GRHL3 was identified as another VWS causative gene. Thus, it may be a novel candidate gene for NSCL/P. In the present study, we genotyped 10 tag SNPs covering GRHL3 and performed association analysis with NSCL/P in 504 cases and 455 healthy controls. Our preliminary results identified rs10903078, rs4638975, and a haplotype rs10903078-rs6659209 of GRHL3 that exceeded the significance threshold (p<0.05), though none survived Bonferroni correction for multiple comparisons. As the first study between GRHL3 and NSCL/P, the contribution of this gene to NSCL/P etiology should be interpreted with caution based on existing evidence. Further, the robustness of association between GRHL3 and NSCL/P should be further validated in expanded cohorts. PMID:27129939

  9. A genome-wide study of de novo deletions identifies a candidate locus for non-syndromic isolated cleft lip/palate risk

    PubMed Central

    2014-01-01

    Background Copy number variants (CNVs) may play an important part in the development of common birth defects such as oral clefts, and individual patients with multiple birth defects (including clefts) have been shown to carry small and large chromosomal deletions. In this paper we investigate de novo deletions defined as DNA segments missing in an oral cleft proband but present in both unaffected parents. We compare de novo deletion frequencies in children of European ancestry with an isolated, non-syndromic oral cleft to frequencies in children of European ancestry from randomly sampled trios. Results We identified a genome-wide significant 62 kilo base (kb) non-coding region on chromosome 7p14.1 where de novo deletions occur more frequently among oral cleft cases than controls. We also observed wider de novo deletions among cleft lip and palate (CLP) cases than seen among cleft palate (CP) and cleft lip (CL) cases. Conclusions This study presents a region where de novo deletions appear to be involved in the etiology of oral clefts, although the underlying biological mechanisms are still unknown. Larger de novo deletions are more likely to interfere with normal craniofacial development and may result in more severe clefts. Study protocol and sample DNA source can severely affect estimates of de novo deletion frequencies. Follow-up studies are needed to further validate these findings and to potentially identify additional structural variants underlying oral clefts. PMID:24528994

  10. Longitudinal treatment of cleft lip and palate in developing countries: dentistry as part of a multidisciplinary endeavor.

    PubMed

    Lee, Cameron C Y; Jagtap, Rasika R; Deshpande, Gaurav S

    2014-09-01

    Cleft lip and palate affects roughly 1 in 600 children and predisposes patients to a lifetime of functional and esthetic discrepancies. Disparities in access as well as quality of care exist worldwide, with many children in developing countries unable to receive treatment. In the late 20th century, humanitarian medical missions emerged as a means of delivering surgical expertise to patients in resource-limited settings. These early missions took on a patient-centered approach focused solely on cleft repair, with little emphasis on treating the dental abnormalities that arose after the initial surgery. However, modern cleft care is characterized by a multidisciplinary, team-based approach with significant dental involvement. Recent cleft lip and palate endeavors have shifted from a mission-based approach to a developmental approach facilitating growth of an independent care center. This strategy focuses on creating an institution with expanded access to dental services, thus facilitating the long-term treatment inherent in modern cleft care. One clinic in a developing country that has experienced successful transitioning from a mission site to an independent craniofacial clinic is Operation Smile's Cleft Comprehensive Care Clinic in Guwahati, India. This article will summarize the rationale and planning of the clinic, underscore the team-based approach required in longitudinal treatment of cleft lip and palate, and demonstrate how treatment methodology may differ in resource-limited settings by outlining the therapeutic considerations of each provider in the Guwahati Clinic. PMID:25162552

  11. Parental Attitude towards the Provision of Nonsurgical Oral Health Care to Children with Oral Clefts: An Epidemiological Survey

    PubMed Central

    Hegde, Amitha M

    2010-01-01

    Aim To evaluate the attitudes of parents of 3 to 8 years old children with cleft lip and palate towards the provision of pediatric dental health care and assess the experience of dentistry in general dental practice. Materials and methods A questionnaire was distributed to parents of 100 children in the age group of 3 to 8 years old with cleft lip and palate who visited the cleft lip and palate center in KS Hegde Medical Academy, Mangalore. Results Out of the hundred patients, 66% of the patients registered directly at the cleft center for their deformity. Only 20% of these children visited a local dental practitioner for their dental health care. 42% had neither undergone any dental treatment nor received any dietary or oral hygiene advices. Regarding the provision of the dental treatment, 74% wanted a pediatric dentist to provide dental check-up and treatment at the cleft center, whereas, 24% preferred a dental practitioner close to their home and 2% does not want treatment anywhere. Conclusion The survey indicates that there is parental support for the pediatric dental assessment at the cleft center with subsequent arrangement of dental treatment with their local dental practitioners. The majority wanted a pediatric dentist to provide the dental check-up and treatment at the cleft center.

  12. Passive Smoke Exposure as a Risk Factor for Oral Clefts-A Large International Population-Based Study.

    PubMed

    Kummet, Colleen M; Moreno, Lina M; Wilcox, Allen J; Romitti, Paul A; DeRoo, Lisa A; Munger, Ronald G; Lie, Rolv T; Wehby, George L

    2016-05-01

    Maternal cigarette smoking is a well-established risk factor for oral clefts. Evidence is less clear for passive (secondhand) smoke exposure. We combined individual-level data from 4 population-based studies (the Norway Facial Clefts Study, 1996-2001; the Utah Child and Family Health Study, 1995-2004; the Norwegian Mother and Child Cohort Study, 1999-2009; and the National Birth Defects Prevention Study (United States), 1999-2007) to obtain 4,508 cleft cases and 9,626 controls. We categorized first-trimester passive and active smoke exposure. Multivariable logistic models adjusted for possible confounders (maternal alcohol consumption, use of folic acid supplements, age, body size, education, and employment, plus study fixed effects). Children whose mothers actively smoked had an increased risk of oral clefts (odds ratio (OR) = 1.27, 95% confidence interval (CI): 1.11, 1.46). Children of passively exposed nonsmoking mothers also had an increased risk (OR = 1.14, 95% CI: 1.02, 1.27). Cleft risk was further elevated among babies of smoking mothers who were exposed to passive smoke (OR = 1.51, 95% CI: 1.35, 1.70). Using a large pooled data set, we found a modest association between first-trimester passive smoking and oral clefts that was consistent across populations, diverse study designs, and cleft subtypes. While this association may reflect subtle confounding or bias, we cannot rule out the possibility that passive smoke exposure during pregnancy is teratogenic. PMID:27045073

  13. Relationship Between Age and Diagnosis on Volumetric and Linear Velopharyngeal Measures in the Cleft and Noncleft Populations.

    PubMed

    Mason, Kazlin N; Perry, Jamie L

    2016-07-01

    The purpose of this study was to create a 3D volumetric segmentation from magnetic resonance imaging (MRI) of the nasopharyngeal space and adenoid tissue and to examine the relationship between nasopharyngeal volume (NPV), adenoid volume, and linear measures of the velopharyngeal structures, pharynx, and vocal tract in children with and without cleft palate. A total of 24 participants including 18 typically developing children (4-8 years of age) and 6 children (4-8 years of age) with varying degrees of cleft palate were imaged using MRI. Linear and volumetric variables varied significantly based on age. Overall, NPV demonstrates a modest increase with age. Nasopharyngeal volume was positively correlated with age (P = 0.000), oronasopharyngeal volume (P = 0.000), velar length (P = 0.018), and velar thickness (P = 0.046). These variables tend to increase together. Differences in NPV between groups (bilateral cleft lip and palate, submucous cleft lip and palate, unilateral cleft lip and palate [UCLP], and noncleft) were statistically significant (P = 0.007). Participants with bilateral cleft lip and palate demonstrated greater NPVs than those with UCLP and submucous cleft palate. PMID:27391503

  14. Choanal atresia as a feature of ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome.

    PubMed Central

    Christodoulou, J; McDougall, P N; Sheffield, L J

    1989-01-01

    We report here a father and daughter with digital abnormalities, nasolacrimal duct obstruction, and variable alopecia. The father had a cleft lip and palate and the daughter had choanal atresia. We propose they both have the EEC syndrome and show the variable expressivity of this disorder. Choanal atresia has not been previously reported in this condition. Images PMID:2553970

  15. Holoprosencephaly, bilateral cleft lip and palate and ectrodactyly: another case and follow up.

    PubMed

    König, Rainer; Beeg, Thomas; Tariverdian, Gholamali; Scheffer, Hans; Bitter, Klaus

    2003-10-01

    We describe a male patient with lobar holoprosencephaly, ectrodactyly, and cleft lip/palate, a syndrome which has been seen previously in only six patients. In addition, our patient developed hypernatraemia, which has been described in three patients before. PMID:14564207

  16. Exhaustivity in Questions & Clefts; and the Quantifier Connection: A Study in German and English

    ERIC Educational Resources Information Center

    Heizmann, Tanja

    2012-01-01

    This thesis investigates children's acquisition of exhaustivity across four structures: quantifiers, single questions, multiple questions and clefts. Two languages, English and German, are probed. Exhaustivity needs some sort of plural set to be mentioned without leaving out a member of that set. This dissertation provides experimental data…

  17. The Etiology of Cleft Palate Formation in BMP7-Deficient Mice

    PubMed Central

    Kouskoura, Thaleia; Kozlova, Anastasiia; Alexiou, Maria; Blumer, Susanne; Zouvelou, Vasiliki; Katsaros, Christos; Chiquet, Matthias; Mitsiadis, Thimios A.; Graf, Daniel

    2013-01-01

    Palatogenesis is a complex process implying growth, elevation and fusion of the two lateral palatal shelves during embryogenesis. This process is tightly controlled by genetic and mechanistic cues that also coordinate the growth of other orofacial structures. Failure at any of these steps can result in cleft palate, which is a frequent craniofacial malformation in humans. To understand the etiology of cleft palate linked to the BMP signaling pathway, we studied palatogenesis in Bmp7-deficient mouse embryos. Bmp7 expression was found in several orofacial structures including the edges of the palatal shelves prior and during their fusion. Bmp7 deletion resulted in a general alteration of oral cavity morphology, unpaired palatal shelf elevation, delayed shelf approximation, and subsequent lack of fusion. Cell proliferation and expression of specific genes involved in palatogenesis were not altered in Bmp7-deficient embryos. Conditional ablation of Bmp7 with Keratin14-Cre or Wnt1-Cre revealed that neither epithelial nor neural crest-specific loss of Bmp7 alone could recapitulate the cleft palate phenotype. Palatal shelves from mutant embryos were able to fuse when cultured in vitro as isolated shelves in proximity, but not when cultured as whole upper jaw explants. Thus, deformations in the oral cavity of Bmp7-deficient embryos such as the shorter and wider mandible were not solely responsible for cleft palate formation. These findings indicate a requirement for Bmp7 for the coordination of both developmental and mechanistic aspects of palatogenesis. PMID:23516636

  18. Congenital anomaly of craniovertebral junction: atlas-dens fusion with C1 anterior arch cleft.

    PubMed

    Pérez-Vallina, José R; Riaño-Galán, Isolina; Cobo-Ruisánchez, Angeles; Orejas-Rodriguez-Arango, Gonzalo; López-Muñiz, Carlos; Fernández-Martínez, José M

    2002-02-01

    A rare case of congenital atlantoaxial block is reported. A 13-year-old boy had a fusion of a non-separated odontoid process with the anterior arch of the atlas, in association with an anterior midline C1 arch cleft. PMID:11891461

  19. Frontal cephalometric evaluation of transverse dentofacial morphology and growth of children with isolated cleft palate.

    PubMed

    Athanasiou, A E; Moyers, R E; Mazaheri, M; Toutountzakis, N

    1991-08-01

    The transverse dentofacial morphology and growth of 64 children operated on for clefting of the hard and soft palate was studied by means of a frontal proportional cephalometric analysis and was compared to a normal sample at the ages 3-4, 8-9 and 12 years. The cross-sectional comparison of the cleft palate and normal samples at the three periods indicated: (a) The presence in the cleft group of significantly increased ratios of the inner orbital width to the interorbital width and of the width of the nasal cavity to the interorbital width; (b) the absence of any significant differences in the ratio of the maxillary intermolar width to the interorbital width; and (c) the presence of almost identical ratios of the intergonial width of the mandible to the interorbital width and of the width of the maxilla to the intergonial width of the mandible. Evaluation of the changes of all cephalometric variables during the period 8-12 years showed the absence of any significant difference between the cleft palate and normal groups. PMID:1939671

  20. "What They Highlight Is...": The Discourse Functions of Basic "Wh"-Clefts in Lectures

    ERIC Educational Resources Information Center

    Deroey, Katrien L. B.

    2012-01-01

    This paper reports findings from a study on the discourse functions of basic "wh"-clefts such as "what our brains do is complicated information processing" in 160 lectures drawn from the British Academic Spoken English (BASE) corpus. Like much linguistic research on this academic genre, the investigation is motivated by the need to gain a better…

  1. Few associations of candidate genes with nonsyndromic orofacial clefts in the population of Lithuania.

    PubMed

    Morkūniené, Ausra; Steponaviciūt, Danguole; Utkus, Algirdas; Kucinskas, Vaidutis

    2007-01-01

    Nonsyndromic orofacial clefting (NS-OFC) is a common complex multifactorial trait with a considerable genetic component and a number of candidate genes suggested by various approaches. Twenty biallelic and microsatellite DNA markers in the strong candidate loci TGFA, TGFB3, GABRB3, RARA, and BCL3 were analysed for allelic association with the NS-OFC phenotype in 112 nuclear families (proband + both parents) from Lithuania by using the transmission disequilibrium test (TDT). Associations were found between the TGFA gene marker rs2166975 and nonsyndromic cleft palate only (CPO) phenotype (p = 0.045, df 1) as well as between the D2S292 marker and the cleft lip with or without cleft palate (CL/CP) phenotype in allele-wise TDT (P = 0.005, df 9) and genotype-wise TDT (P = 0.021, df 24). A weak association (P = 0.085, df 3) of the BCL3 marker (BCL3 gene) with the risk of CPO was also found. Thus our initial results support the contribution of allelic variation in the TGFA locus to the aetiology of CL/CP in the population of Lithuania but they do not point to TGFA as a major causal gene. Different roles of the TGFA and BCL3 genes in the susceptibility to NS-OFC phenotypes are suggested. PMID:17272867

  2. MECHANISMS OF TCDD-INDUCTION OF CLEFT PALATE: INSIGHTS FROM IN VIVO AND IN VITRO APPROACHES

    EPA Science Inventory

    TCDD induced cleft palate (CP) in C57BL6N embryos by altering proliferation and differentiation of palatal medial epithelial cells. hese effects correlated with altered expression of the growth factors, TGF-a,EGF. TGF-B1 and TGF-B2, and the EGF receptor. ynergistic interactions b...

  3. Association of syndactyly, ectodermal dysplasia, and cleft lip and palate: report of two sibs from Turkey.

    PubMed Central

    Oğur, G; Yüksel, M

    1988-01-01

    Two Turkish sibs, products of a second cousin marriage, with tetramelic syndactyly, ectodermal dysplasia, cleft lip and palate, renal anomalies, and mental retardation are reported. Similarities between these two brothers and previously reported cases and their mode of transmission are discussed. Images PMID:2832607

  4. Clinical and Imaging Features of a Congenital Midline Cervical Cleft in a Neonate: A Rare Anomaly

    PubMed Central

    Bawa, Pritish; Ibrahim, Zachary; Amodio, John

    2015-01-01

    Congenital midline cervical cleft (CMCC) is a rare congenital anomaly. CMCC and its complications and treatment have been well described in ENT, dermatology, and pediatric surgery literature. However, to our knowledge, the imaging work-up has not been reported in the literature thus far. We present a case of CMCC in a neonate with description of clinical presentation and imaging features. PMID:26078904

  5. Interhypothalamic Adhesion in a 9-Month-Old Male with Cleft Palate

    PubMed Central

    Whitehead, Matthew T.; Angel, Jacqueline D. S.

    2013-01-01

    A 9-month-old male infant with multiple congenital anomalies including cleft lip and palate was referred to us for a brain MR to exclude additional intracranial abnormalities. Imaging revealed an interhypothalamic adhesion, which we present as a possible forme fruste of holoprosencephaly. PMID:24368961

  6. Quantifying Asymmetry and Scar Quality of Children With Repaired Cleft Lip and Palate Using Symnose 2.

    PubMed

    Pigott, Ronald W; Pigott, Brian B

    2016-05-01

    The Symnose semiautomated assessment of outcome of the appearance of the repaired cleft lip and nose was developed to measure asymmetry. Symnose 2 has been further developed to include quantification of the extent of scar color, intensity, and contour and midline dehiscence, underexpressed in the measurement of asymmetry. PMID:26295699

  7. TPM1 polymorphisms and nonsyndromic orofacial clefts susceptibility in a Chinese Han population.

    PubMed

    Qian, Yajing; Li, Dandan; Ma, Lan; Zhang, Hongchuang; Gong, Miao; Li, Sheng; Yuan, Hua; Zhang, Weibing; Ma, Junqing; Jiang, Hongbing; Pan, Yongchu; Wang, Lin

    2016-05-01

    Located at 15q22 a susceptibility region for nonsyndromic orofacial clefts (NSOC), TPM1 encodes a group of highly conserved ubiquitous actin-binding proteins involved in the muscle contraction and cytoskeleton organization. Considering the multiple functions of TPM1 gene, we investigated the potential relationship between TPM1 polymorphisms and risk of NSOC in a Chinese Han population. Four tag single nucleotide polymorphisms (tSNPs) of TPM1 (rs11071720, rs3803499, rs12148828, and rs1972041) were selected to conduct a case-control study with 673 NSOC patients and 705 unrelated healthy controls from a Chinese Han population. The SNPs were genotyped by the IPLEX Sequenom MassARRAY platform. SNP rs1972041GA showed a decreased risk of NSOC in heterozygotes (P = 0.038, OR = 0.77, 95%CI = [0.61, 0.99]). Further stratified analysis revealed an enhanced protective effect of the minor allele G at rs197204 on lip with cleft palate (CLP) and cleft lip with or without cleft palate (CL/P) groups under a codominant or dominant model. No association was observed between the remaining three markers (rs11071720, rs3803499, and rs12148828) and NSOC as well as its subgroups. TPM1 polymorphisms might contribute to the etiology of NSOC, and more emphasis should be placed on TPM1 during craniofacial development. © 2016 Wiley Periodicals, Inc. PMID:26792422

  8. Teaching French Cleft Constructions to English-Speakers: What Syntactic Theory Has to Say.

    ERIC Educational Resources Information Center

    Hagen, L. Kirk; DeWitt, Jean

    1993-01-01

    A study investigated the effectiveness of teaching French cleft constructions (e.g., "qui est-ce qui...) by three methods: in a contextual presentation; traditionally; and in a presentation influenced by syntactic theory and explaining the internal structure of the phrases. Results suggest formal grammar instruction should focus on familiar…

  9. Current status of presurgical infant orthopaedic treatment for cleft lip and palate patients: A critical review

    PubMed Central

    Niranjane, P. Priyanka; Kamble, R. H.; Diagavane, S. Pallavi; Shrivastav, S. Sunita; Batra, Puneet; Vasudevan, S. D.; Patil, Pushkar

    2014-01-01

    Rehabilitation of cleft lip and palate (CLP) patients is a challenge for all the concerned members of the cleft team, and various treatment modalities have been attempted to obtain aesthetic results. Presurgical infant orthopaedics (PSIO) was introduced to reshape alveolar and nasal segments prior to surgical repair of cleft lip. However, literature reports lot of controversy regarding the use of PSIO in patients with CLP. Evaluation of long-term results of PSIO can provide scientific evidence on the efficacy and usefulness of PSIO in CLP patients. The aim was to assess the scientific evidence on the efficiency of PSIO appliances in patients with CLP and to critically analyse the current status of PSIO. A PubMed search was performed using the terms PSIO, presurgical nasoalveolar moulding and its long-term results and related articles were selected for the review. The documented studies report no beneficial effect of PSIO on maxillary arch dimensions, facial aesthetics and in the subsequent development of dentition and occlusion in CLP patients. Nasal moulding seems to be more beneficial and effective in unilateral cleft lip and palate patients with better long-term results. PMID:25593413

  10. Genomic expression in non syndromic cleft lip and palate patients: A review

    PubMed Central

    Mehrotra, D.

    2015-01-01

    Cleft lip and palate are common congenital anomalies with significant medical, psychological, social, and economic ramifications, affecting one in seven hundred live births. Genetic causes of non syndromic cleft lip and/or palate (NSCLP) include chromosomal rearrangements, genetic susceptibility to teratogenic exposures, and complex genetic contributions of multiple genes. Development of the orofacial clefts in an individual will depend on the interaction of several moderately effecting genes with environmental factors. Several candidate genes have been genotyped in different population types, using case parent trio or case control design; also genes have been sequenced and SNPs have been reported. Quantitative and molecular analysis have shown linkage and association studies to be more relevant. Recent literature search shows genome wide association studies using microarray. The aim of this paper was to review the approaches to identify genes associated with NSCLP and to analyze their differential expressions. Although no major gene has been confirmed, a lot of research is ongoing to provide an understanding of the pathophysiology of the orofacial clefts. PMID:26258020

  11. Perpendicular serial maxillary distraction osteogenesis in cleft lip and palate patients

    PubMed Central

    Ylikontiola, Leena P.; Sándor, George K.; Harila, Virpi

    2015-01-01

    Background: Cleft lip and palate patients often have a retruded maxilla with a severely narrowed deficient maxillary arch. This report aims to describe the management of severe maxillary retrusion and constriction in cleft lip and palate patients using distraction osteogenesis applied in serial sequence in two directions perpendicular to each other. Materials and Methods: Two adult male cleft lip and palate patients were treated with maxillary distraction osteogenesis in two stages. In the first stage, surgically assisted rapid palatal expansion with a tooth-borne device was performed to significantly expand the maxillary arch in the transverse dimension. After the teeth were orthodontically aligned, the horizontal distraction of the maxilla was made by two internal maxillary distraction devices. Results: In the first patient, the maxilla was initially widened by 11 mm and then distracted forward by 20 mm. Despite the breakage of the shaft of one of the two distractors at the end of distraction, a satisfactory occlusion was found at the time of distractor device removal. The maxillary position has remained stable through 8 years of follow-up. In the second patient, the palate was widened by 14 mm and the maxilla was distracted forward by 22 mm. The maxillary position has remained stable through 3 years of follow-up. Conclusion: Sequential serial distraction of maxilla in two planes perpendicular to each other is a safe and stable approach for the treatment of cleft lip and palate patients with severe transverse and anteroposterior discrepancies. PMID:26981462

  12. Juvenile Swine Surgical Alveolar Cleft Model to Test Novel Autologous Stem Cell Therapies

    PubMed Central

    Caballero, Montserrat; Morse, Justin C.; Halevi, Alexandra E.; Emodi, Omri; Pharaon, Michael R.; Wood, Jeyhan S.

    2015-01-01

    Reconstruction of craniofacial congenital bone defects has historically relied on autologous bone grafts. Engineered bone using mesenchymal stem cells from the umbilical cord on electrospun nanomicrofiber scaffolds offers an alternative to current treatments. This preclinical study presents the development of a juvenile swine model with a surgically created maxillary cleft defect for future testing of tissue-engineered implants for bone generation. Five-week-old pigs (n=6) underwent surgically created maxillary (alveolar) defects to determine critical-sized defect and the quality of treatment outcomes with rib, iliac crest cancellous bone, and tissue-engineered scaffolds. Pigs were sacrificed at 1 month. Computed tomography scans were obtained at days 0 and 30, at the time of euthanasia. Histological evaluation was performed on newly formed bone within the surgical defect. A 1 cm surgically created defect healed with no treatment, the 2 cm defect did not heal. A subsequently created 1.7 cm defect, physiologically similar to a congenitally occurring alveolar cleft in humans, from the central incisor to the canine, similarly did not heal. Rib graft treatment did not incorporate into adjacent normal bone; cancellous bone and the tissue-engineered graft healed the critical-sized defect. This work establishes a juvenile swine alveolar cleft model with critical-sized defect approaching 1.7 cm. Both cancellous bone and tissue engineered graft generated bridging bone formation in the surgically created alveolar cleft defect. PMID:25837453

  13. Laser depilation of the natal cleft--an aid to healing the pilonidal sinus.

    PubMed Central

    Odili, Joy; Gault, David

    2002-01-01

    BACKGROUND: Pilonidal disease is common. Excessive hair growth in the natal cleft is thought to be a factor in initiating these sinuses. It is chronic and intermittent in nature and treatment can be difficult. Hair removal by shaving or use of creams is often advised as a compliment to surgical treatments. However, access to the natal cleft can be difficult. Laser removal of hair in the natal cleft is considered as an aid to healing the pilonidal sinus. PATIENTS AND METHODS: Over a 5-year period, 14 patients with recurrent pilonidal disease were treated in our unit with laser depilation. They were all contacted by postal questionnaire, and those with ongoing disease were asked to return to the clinic for evaluation and possible further treatment. RESULTS: All patients returned the postal questionnaire. Of the 14 patients, 4 had on-going disease and received further depilation with the Alexandrite laser. All are now healed with no reported complications. All patients found the procedure painful and received local anaesthetic. CONCLUSIONS: Laser depilation in the natal cleft is by no means a cure for pilonidal disease. Removal of hair by this method represents an alternative and effective method of hair removal and, although long lasting, is only temporary. However, it allows the sinuses to heal rapidly. It is relatively safe, and simple to teach, with few complications. It should thus be considered as an aid to healing the problem pilonidal sinus. Images Figure 1 Figure 2 PMID:11890622

  14. The etiology of cleft palate formation in BMP7-deficient mice.

    PubMed

    Kouskoura, Thaleia; Kozlova, Anastasiia; Alexiou, Maria; Blumer, Susanne; Zouvelou, Vasiliki; Katsaros, Christos; Chiquet, Matthias; Mitsiadis, Thimios A; Graf, Daniel

    2013-01-01

    Palatogenesis is a complex process implying growth, elevation and fusion of the two lateral palatal shelves during embryogenesis. This process is tightly controlled by genetic and mechanistic cues that also coordinate the growth of other orofacial structures. Failure at any of these steps can result in cleft palate, which is a frequent craniofacial malformation in humans. To understand the etiology of cleft palate linked to the BMP signaling pathway, we studied palatogenesis in Bmp7-deficient mouse embryos. Bmp7 expression was found in several orofacial structures including the edges of the palatal shelves prior and during their fusion. Bmp7 deletion resulted in a general alteration of oral cavity morphology, unpaired palatal shelf elevation, delayed shelf approximation, and subsequent lack of fusion. Cell proliferation and expression of specific genes involved in palatogenesis were not altered in Bmp7-deficient embryos. Conditional ablation of Bmp7 with Keratin14-Cre or Wnt1-Cre revealed that neither epithelial nor neural crest-specific loss of Bmp7 alone could recapitulate the cleft palate phenotype. Palatal shelves from mutant embryos were able to fuse when cultured in vitro as isolated shelves in proximity, but not when cultured as whole upper jaw explants. Thus, deformations in the oral cavity of Bmp7-deficient embryos such as the shorter and wider mandible were not solely responsible for cleft palate formation. These findings indicate a requirement for Bmp7 for the coordination of both developmental and mechanistic aspects of palatogenesis. PMID:23516636

  15. Evaluation of speech errors in Putonghua speakers with cleft palate: a critical review of methodology issues.

    PubMed

    Jiang, Chenghui; Whitehill, Tara L

    2014-04-01

    Speech errors associated with cleft palate are well established for English and several other Indo-European languages. Few articles describing the speech of Putonghua (standard Mandarin Chinese) speakers with cleft palate have been published in English language journals. Although methodological guidelines have been published for the perceptual speech evaluation of individuals with cleft palate, there has been no critical review of methodological issues in studies of Putonghua speakers with cleft palate. A literature search was conducted to identify relevant studies published over the past 30 years in Chinese language journals. Only studies incorporating perceptual analysis of speech were included. Thirty-seven articles which met inclusion criteria were analyzed and coded on a number of methodological variables. Reliability was established by having all variables recoded for all studies. This critical review identified many methodological issues. These design flaws make it difficult to draw reliable conclusions about characteristic speech errors in this group of speakers. Specific recommendations are made to improve the reliability and validity of future studies, as well to facilitate cross-center comparisons. PMID:24093158

  16. Educational Programming: A Seminar for Young Adults with Cleft Lip and/or Palate.

    ERIC Educational Resources Information Center

    Imhoff, Michael; And Others

    1981-01-01

    The social service staff of the H. K. Cooper Clinic (Lancaster, Pennsylvania) conducted a seminar for young adults with cleft lip and palate (CL/P) and their families. The seminar was designed to respond to questions and concerns regarding the impact of CL/P on employment, social relations, and genetics. (SB)

  17. Long-Term Speech Results of Cleft Palate Speakers with Marginal Velopharyngeal Competence.

    ERIC Educational Resources Information Center

    Hardin, Mary A.; And Others

    1990-01-01

    This study of the longitudinal speech performance of 48 cleft palate speakers with marginal velopharyngeal competence, from age 6 to adolescence, found that the adolescent subjects' velopharyngeal status could be predicted based on 2 variables at age 6: the severity ratings of articulation defectiveness and nasality. (Author/JDD)

  18. Cleft Audit Protocol for Speech (CAPS-A): A Comprehensive Training Package for Speech Analysis

    ERIC Educational Resources Information Center

    Sell, D.; John, A.; Harding-Bell, A.; Sweeney, T.; Hegarty, F.; Freeman, J.

    2009-01-01

    Background: The previous literature has largely focused on speech analysis systems and ignored process issues, such as the nature of adequate speech samples, data acquisition, recording and playback. Although there has been recognition of the need for training on tools used in speech analysis associated with cleft palate, little attention has been…

  19. The Effect of Cleft Lip on Socio-Emotional Functioning in School-Aged Children

    ERIC Educational Resources Information Center

    Murray, Lynne; Arteche, Adriane; Bingley, Caroline; Hentges, Francoise; Bishop, Dorothy V. M.; Dalton, Louise; Goodacre, Tim; Hill, Jonathan

    2010-01-01

    Background: Children with cleft lip are known to be at raised risk for socio-emotional difficulties, but the nature of these problems and their causes are incompletely understood; longitudinal studies are required that include comprehensive assessment of child functioning, and consideration of developmental mechanisms. Method: Children with cleft…

  20. A Demonstration Project of Speech Training for the Preschool Cleft Palate Child. Final Report.

    ERIC Educational Resources Information Center

    Harrison, Robert J.

    To ascertain the efficacy of a program of language and speech stimulation for the preschool cleft palate child, a research and demonstration project was conducted using 137 subjects (ages 18 to 72 months) with defects involving the soft palate. Their language and speech skills were matched with those of a noncleft peer group revealing that the…

  1. Phonological Proficiency of Two Cleft Palate Toddlers with School-Age Follow-Up.

    ERIC Educational Resources Information Center

    Lynch, Joan I.; And Others

    1983-01-01

    A comprehensive analysis of the speech-sound production at ages two-three, five, and seven of two children with repaired bilateral cleft lip and palate. Results indicated individual differences in that one S's emerging phonological system was more characteristic of developmental delay while the other was more characteristic of structural…

  2. Role of Visual Feedback Treatment for Defective /s/ Sounds in Patients with Cleft Palate.

    ERIC Educational Resources Information Center

    Michi, Ken-ichi; And Others

    1993-01-01

    Six patients with cleft palate were provided treatment using either visual feedback for tongue placement and frication or no visual feedback. Results indicated the feedback was especially useful in the treatment of defective /s/ sounds in the patients who exhibited abnormal posterior tongue posturing during dental or alveolar sounds. (Author/DB)

  3. A Procedure for the Computerized Analysis of Cleft Palate Speech Transcription

    ERIC Educational Resources Information Center

    Fitzsimons, David A.; Jones, David L.; Barton, Belinda; North, Kathryn N.

    2012-01-01

    The phonetic symbols used by speech-language pathologists to transcribe speech contain underlying hexadecimal values used by computers to correctly display and process transcription data. This study aimed to develop a procedure to utilise these values as the basis for subsequent computerized analysis of cleft palate speech. A computer keyboard…

  4. Nonsyndromic cleft lip and palate: Evidence of linkage to a microsatellite marker on 6p23

    SciTech Connect

    Carinci, F.; Pezzetti, F.; Scapoli, L.; Padula, E.; Baciliero, U.; Curioni, C.; Tognon, M.

    1995-01-01

    Nonsydromic cleft lip with or without secondary clefting of the palate (CL+/{minus}P) is one of the most common birth defects. A previous linkage study concerning CL+/{minus}P and cleft palate (CP) families indicated chromosome 6p, near F13A locus, as a possible region for the presence of a clefting gene. More recently, another linkage study performed on a sample of 12 families with nonsyndromic CL+/{minus}P seemed to exclude this association. To test the hypothesis on the possible presence of a major gene on chromosome 6p, we carried out a study on a large sample (21) of CL+/{minus}P families from northeastern Italy. In conclusion, our investigation can be summarized as follows: (i) CL+/{minus}P disease appears to be heterogeneous; (ii) {approximately}66% of the pedigrees showed an autosomal dominant inheritance with incomplete penetrance; and (iii) CL+/{minus}P locus maps on 6p23 very close to or at the microsatellite marker D6S89. To verify whether the D6S89 is the closest marker to the CL+/{minus}P locus, additional examinations with new markers are underway. 19 refs., 1 fig., 1 tab.

  5. Speech Analysis of Bengali Speaking Children with Repaired Cleft Lip & Palate

    ERIC Educational Resources Information Center

    Chakrabarty, Madhushree; Kumar, Suman; Chatterjee, Indranil; Maheshwari, Neha

    2012-01-01

    The present study aims at analyzing speech samples of four Bengali speaking children with repaired cleft palates with a view to differentiate between the misarticulations arising out of a deficit in linguistic skills and structural or motoric limitations. Spontaneous speech samples were collected and subjected to a number of linguistic analyses…

  6. Speech Production Time and Judgments of Disordered Nasalization in Speakers with Cleft Palate.

    ERIC Educational Resources Information Center

    Jones, David L.; And Others

    1990-01-01

    This study investigated effect of production time on the perception of disordered nasalization in 20 children (ages 6-18) with cleft palate. Ten judges used direct magnitude estimates to rate severity of disordered nasalization. Results indicated that reducing the production time did not change perceptible nasalization. (Author/DB)

  7. Compensatory Articulatory Behaviours in Adolescents with Cleft Palate: Comparing the Perceptual and Instrumental Evidence

    ERIC Educational Resources Information Center

    Howard, Sara

    2004-01-01

    A combination of perceptual and electropalatographic (EPG) analysis is used to investigate speech production in three adolescent speakers with a history of cleft palate. All the subjects still sound markedly atypical. Their speech output is analysed in three conditions: diadochokinetic tasks; single word production; connected speech. Comparison of…

  8. A Developmental Perspective on Assessment of Infants with Clefts and Related Disorders.

    ERIC Educational Resources Information Center

    Savage, Hallie E.; And Others

    1994-01-01

    This article presents a rationale for comprehensive developmental assessment for infants with cleft palates/lips and related disorders. The assessment model is based on risk factors influencing early development and on clinical research on developmental outcomes. Implications on the clinical assessment process and early intervention are discussed.…

  9. Bilingual Children with Nonsyndromic Cleft Lip and/or Palate: Language and Memory Skills

    ERIC Educational Resources Information Center

    Young, Selena Ee-Li; Purcell, Alison Anne; Ballard, Kirrie Jane; Liow, Susan Jane Rickard; Ramos, Sara Da Silva; Heard, Robert

    2012-01-01

    Purpose: Research shows that monolingual children with cleft lip and/or palate (CLP) have a higher incidence of cognitive-linguistic deficits, but it is not clear whether bilingual preschool children with CLP are especially vulnerable because they need to acquire 2 languages. We tested the hypothesis that bilingual children with CLP score lower…

  10. Issues in Perceptual Speech Analysis in Cleft Palate and Related Disorders: A Review

    ERIC Educational Resources Information Center

    Sell, Debbie

    2005-01-01

    Perceptual speech assessment is central to the evaluation of speech outcomes associated with cleft palate and velopharyngeal dysfunction. However, the complexity of this process is perhaps sometimes underestimated. To draw together the many different strands in the complex process of perceptual speech assessment and analysis, and make…

  11. Effect of Maxillary Osteotomy on Speech in Cleft Lip and Palate: Perceptual Outcomes of Velopharyngeal Function

    ERIC Educational Resources Information Center

    Pereira, Valerie J.; Sell, Debbie; Tuomainen, Jyrki

    2013-01-01

    Background: Abnormal facial growth is a well-known sequelae of cleft lip and palate (CLP) resulting in maxillary retrusion and a class III malocclusion. In 10-50% of cases, surgical correction involving advancement of the maxilla typically by osteotomy methods is required and normally undertaken in adolescence when facial growth is complete.…

  12. An Ultrasonographic Investigation of Cleft-Type Compensatory Articulations of Voiceless Velar Stops

    ERIC Educational Resources Information Center

    Bressmann, Tim; Radovanovic, Bojana; Kulkarni, Gajanan V.; Klaiman, Paula; Fisher, David

    2011-01-01

    Ultrasound imaging was used to investigate the articulation of the voiceless velar stop [k] in five speakers with compensatory articulation related to cleft palate. The perceptual evaluation of the acoustic realization and the visual assessment of the tongue movement for the target sound were made by three examiners. The analysis revealed a…

  13. Cognitive Patterns and Learning Disabilities in Cleft Palate Children with Verbal Deficits.

    ERIC Educational Resources Information Center

    Richman, Lynn C.

    1980-01-01

    The study examined patterns of cognitive ability in 57 cleft lip and palate children (ages 7 to 9) with verbal deficit, but without general intellectual retardation to evaluate whether the verbal disability displayed by these children was related primarily to a specific verbal expression deficit or a more general symbolic mediation problem.…

  14. Trafficking of STEVOR to the Maurer's clefts in Plasmodium falciparum-infected erythrocytes

    PubMed Central

    Przyborski, Jude M; Miller, Susanne K; Pfahler, Judith M; Henrich, Philipp P; Rohrbach, Petra; Crabb, Brendan S; Lanzer, Michael

    2005-01-01

    The human malarial parasite Plasmodium falciparum exports proteins to destinations within its host erythrocyte, including cytosol, surface and membranous profiles of parasite origin termed Maurer's clefts. Although several of these exported proteins are determinants of pathology and virulence, the mechanisms and trafficking signals underpinning protein export are largely uncharacterized—particularly for exported transmembrane proteins. Here, we have investigated the signals mediating trafficking of STEVOR, a family of transmembrane proteins located at the Maurer's clefts and believed to play a role in antigenic variation. Our data show that, apart from a signal sequence, a minimum of two addition signals are required. This includes a host cell targeting signal for export to the host erythrocyte and a transmembrane domain for final sorting to Maurer's clefts. Biochemical studies indicate that STEVOR traverses the secretory pathway as an integral membrane protein. Our data suggest general principles for transport of transmembrane proteins to the Maurer's clefts and provide new insights into protein sorting and trafficking processes in P. falciparum. PMID:15961998

  15. Is there an optimal resting velopharyngeal gap in operated cleft palate patients?

    PubMed Central

    Yellinedi, Rajesh; Damalacheruvu, Mukunda Reddy

    2013-01-01

    Context: Videofluoroscopy in operated cleft palate patients. Aims: To determine the existence of an optimal resting velopharyngeal (VP) gap in operated cleft palate patients Settings and Design: A retrospective analysis of lateral view videofluoroscopy of operated cleft palate patients. Materials and Methods: A total of 117 cases of operated cleft palate underwent videofluoroscopy between 2006 and 2011. The lateral view of videofluoroscopy was utilised in the study. A retrospective analysis of the lateral view of videofluoroscopy of these 117 patients was performed to analyse the resting VP gap and its relationship to VP closure. Statistical analysis used: None. Results: Of the 117 cases, 35 had a resting gap of less than 6 mm, 34 had a resting gap between 6 and 10 mm and 48 patients had a resting gap of more than 10 mm. Conclusions: The conclusive finding was that almost all the patients with a resting gap of <6 mm (group C) achieved radiological closure of the velopharynx with speech; thus, they had the least chance of VP insufficiency (VPI). Those patients with a resting gap of >10 mm (group A) did not achieve VP closure on phonation, thus having full-blown VPI. Therefore, it can be concluded that the ideal resting VP gap is approximately 6 mm so as to get the maximal chance of VP closure and thus prevent VPI. PMID:23960311

  16. Parental cigarette smoking, transforming growth factor-alpha gene variant and the risk of orofacial cleft in Iranian infants

    PubMed Central

    Ebadifar, Asghar; Hamedi, Roya; KhorramKhorshid, Hamid Reza; Kamali, Koorosh; Moghadam, Fatemeh Aghakhani

    2016-01-01

    Objective(s): We investigated the influence of genetic variation of the transforming growth-factor alpha (TGFA) locus on the relationship between smoking and oral clefts. Materials and Methods: In this study 105 Iranian infants with non-syndromic cleft lip/palate and 218 controls with non-cleft birth defects were examined to test for associations among maternal exposures, genetic markers, and oral clefts. Maternal and parental smoking histories during pregnancy were obtained through questionnaire. DNA was extracted from newborn screening blood samples, and genotyping of the BamHI polymorphism in the TGFA gene was performed by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) methods. A number of factors including gender of the newborns, type of oral cleft, consanguinity of the parents, as well as the mother’s age and education were evaluated as potential confounders and effect modifiers. Results: Maternal smoking, in the absence of paternal smoking, was associated with an increased risk for CL/P (OR = 19.2, 95% CI = [(6.2-59.5)]) and cleft palate only (OR =48.7, 95% CI = [(8-29.3)]). If both parents smoked, risks were generally greater (OR = 55.6, 95% CI = [12-20.25]). Analyses for the risk of clefting from maternal smoking, stratified by the presence or absence of the TGFA/BamH1variant, revealed that the risk of clefting among the infants with the TGFA/BamH1 variant when their mothers smoked cigarettes was much greater than the infants who had non-smoker mothers (P=0.001, OR=10.4,95% CI=[3.2,33.6]). Conclusion: The results of this study indicate that first-trimester maternal smoking and infant TGFA locus mutations are both associated with nonsyndromic cleft lip and/or palate (CL/P). PMID:27279979

  17. Modeling serotonin uptake in the lung shows endothelial transporters dominate over cleft permeation

    PubMed Central

    Bassingthwaighte, James B.

    2013-01-01

    A four-region (capillary plasma, endothelium, interstitial fluid, cell) multipath model was configured to describe the kinetics of blood-tissue exchange for small solutes in the lung, accounting for regional flow heterogeneity, permeation of cell membranes and through interendothelial clefts, and intracellular reactions. Serotonin uptake data from the Multiple indicator dilution “bolus sweep” experiments of Rickaby and coworkers (Rickaby DA, Linehan JH, Bronikowski TA, Dawson CA. J Appl Physiol 51: 405–414, 1981; Rickaby DA, Dawson CA, and Linehan JH. J Appl Physiol 56: 1170–1177, 1984) and Malcorps et al. (Malcorps CM, Dawson CA, Linehan JH, Bronikowski TA, Rickaby DA, Herman AG, Will JA. J Appl Physiol 57: 720–730, 1984) were analyzed to distinguish facilitated transport into the endothelial cells (EC) and the inhibition of tracer transport by nontracer serotonin in the bolus of injectate from the free uninhibited permeation through the clefts into the interstitial fluid space. The permeability-surface area products (PS) for serotonin via the inter-EC clefts were ∼0.3 ml·g−1·min−1, low compared with the transporter-mediated maximum PS of 13 ml·g−1·min−1 (with Km = ∼0.3 μM and Vmax = ∼4 nmol·g−1·min−1). The estimates of serotonin PS values for EC transporters from their multiple data sets were similar and were influenced only modestly by accounting for the cleft permeability in parallel. The cleft PS estimates in these Ringer-perfused lungs are less than half of those for anesthetized dogs (Yipintsoi T. Circ Res 39: 523–531, 1976) with normal hematocrits, but are compatible with passive noncarrier-mediated transport observed later in the same laboratory (Dawson CA, Linehan JH, Rickaby DA, Bronikowski TA. Ann Biomed Eng 15: 217–227, 1987; Peeters FAM, Bronikowski TA, Dawson CA, Linehan JH, Bult H, Herman AG. J Appl Physiol 66: 2328–2337, 1989) The identification and quantitation of the cleft pathway conductance from these

  18. Semiconductor chips with ion channels, nerve cells and brain

    NASA Astrophysics Data System (ADS)

    Fromherz, Peter

    2003-01-01

    The electrical interfacing of individual nerve cells and semiconductor microstructures as well as the assembly of neuronal networks and microelectronic circuits, is considered. At first the planar core-coat conductor of a neuron-silicon junction is studied as it determines the coupling of ion-conducting neurons and electron-conducting silicon. The width of the cleft between cell and chip, the resistance of cleft and voltage-gate ion channels in the junction are investigated. On that basis, a subsequent section describes the electronic interfacing of individual cultured neurons with silicon microstructures as well as the integration of microelectronics with small neuronal networks grown in culture. In a final part, the electronic interfacing of cultured brain slices is addressed. The goal of this approach is an integration of neuronal network dynamics and digital computation on a microscopic level for studies in brain research, biosensorics, information technology and medical prosthetics.

  19. Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination.

    PubMed

    Sharma, Deepak; Kumar, Chetan; Bhalerao, Sanjay; Pandita, Aakash; Shastri, Sweta; Sharma, Pradeep

    2015-01-01

    Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC) syndrome is a rare genetic disorder with an incidence of around 1 in 90,000 in population. It is known with various names including split hand-split foot-ectodermal dysplasia-cleft syndrome or split hand, cleft hand, or lobster claw hand/foot. We report first case of EEC with associated heart disease (Tetralogy of Fallot) who was diagnosed as EEC on the basis of clinical features and EEC was confirmed with genetic analysis. PMID:26137453

  20. Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination

    PubMed Central

    Sharma, Deepak; Kumar, Chetan; Bhalerao, Sanjay; Pandita, Aakash; Shastri, Sweta; Sharma, Pradeep

    2015-01-01

    Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC) syndrome is a rare genetic disorder with an incidence of around 1 in 90,000 in population. It is known with various names including split hand–split foot–ectodermal dysplasia–cleft syndrome or split hand, cleft hand, or lobster claw hand/foot. We report first case of EEC with associated heart disease (Tetralogy of Fallot) who was diagnosed as EEC on the basis of clinical features and EEC was confirmed with genetic analysis. PMID:26137453

  1. Histone acetylation is involved in TCDD‑induced cleft palate formation in fetal mice.

    PubMed

    Yuan, Xingang; Qiu, Lin; Pu, Yalan; Liu, Cuiping; Zhang, Xuan; Wang, Chen; Pu, Wei; Fu, Yuexian

    2016-08-01

    The aim of the present was to evaluate the effects of DNA methylation and histone acetylation on 2,3,7,8‑tetrachlorodibenzo‑p‑dioxin (TCDD)‑induced cleft palate in fetal mice. Pregnant mice (n=10) were randomly divided into two groups: i) TCDD group, mice were treated with 28 µg/kg TCDD on gestation day (GD) 10 by oral gavage; ii) control group, mice were treated with an equal volume of corn oil. On GD 16.5, the fetal mice were evaluated for the presence of a cleft palate. An additional 36 pregnant mice were divided into the control and TCDD groups, and palate samples were collected on GD 13.5, GD 14.5 and GD 15.5, respectively. Transforming growth factor‑β3 (TGF‑β3) mRNA expression, TGF‑β3 promoter methylation, histone acetyltransferase (HAT) activity and histone H3 (H3) acetylation in the palates were evaluated in the two groups. The incidence of a cleft palate in the TCDD group was 93.55%, and no cases of cleft palate were identified in the control group. On GD 13.5 and GD 14.5, TGF‑β3 mRNA expression, HAT activity and acetylated H3 levels were significantly increased in the TCDD group compared with the control. Methylated bands were not observed in the TCDD or control groups. In conclusion, at the critical period of palate fusion (GD 13.5‑14.5), TCDD significantly increased TGF‑β3 gene expression, HAT activity and H3 acetylation. Therefore, histone acetylation may be involved in TCDD‑induced cleft palate formation in fetal mice. PMID:27279340

  2. Histone acetylation is involved in TCDD-induced cleft palate formation in fetal mice

    PubMed Central

    Yuan, Xingang; Qiu, Lin; Pu, Yalan; Liu, Cuiping; Zhang, Xuan; Wang, Chen; Pu, Wei; Fu, Yuexian

    2016-01-01

    The aim of the present was to evaluate the effects of DNA methylation and histone acetylation on 2,3,7,8-tetrachlo-rodibenzo-p-dioxin (TCDD)-induced cleft palate in fetal mice. Pregnant mice (n=10) were randomly divided into two groups: i) TCDD group, mice were treated with 28 µg/kg TCDD on gestation day (GD) 10 by oral gavage; ii) control group, mice were treated with an equal volume of corn oil. On GD 16.5, the fetal mice were evaluated for the presence of a cleft palate. An additional 36 pregnant mice were divided into the control and TCDD groups, and palate samples were collected on GD 13.5, GD 14.5 and GD 15.5, respectively. Transforming growth factor-β3 (TGF-β3) mRNA expression, TGF-β3 promoter methylation, histone acetyltransferase (HAT) activity and histone H3 (H3) acetylation in the palates were evaluated in the two groups. The incidence of a cleft palate in the TCDD group was 93.55%, and no cases of cleft palate were identified in the control group. On GD 13.5 and GD 14.5, TGF-β3 mRNA expression, HAT activity and acetylated H3 levels were significantly increased in the TCDD group compared with the control. Methylated bands were not observed in the TCDD or control groups. In conclusion, at the critical period of palate fusion (GD 13.5–14.5), TCDD significantly increased TGF-β3 gene expression, HAT activity and H3 acetylation. Therefore, histone acetylation may be involved in TCDD-induced cleft palate formation in fetal mice. PMID:27279340

  3. Caregiver responses to early cleft palate care: A mixed method approach

    PubMed Central

    Sischo, Lacey; Clouston, Sean; Phillips, Ceib; Broder, Hillary L.

    2015-01-01

    Objective This study sought to understand caregivers’ (CGs’) responses to early cleft lip/palate care for their infants. Method A prospective, mixed methods multicenter longitudinal study was conducted among CGs (N=118) seeking treatment for their infants’ cleft lip and palate or cleft lip only at one of six cleft treatment centers in the United States. Participants were in one of two treatment groups: traditional care only or nasoalveolar molding (NAM) plus traditional care. The CGs completed semi-structured interviews and standardized questionnaires assessing psychosocial well-being and family impact at three time points: the beginning of treatment (~1 month of age), pre-lip surgery (~3–5 months of age), and post-palate surgery (~12–13 months of age). Multi-level modeling was used to longitudinally assess CGs’ psychosocial outcomes. Results While the first year was demanding for all CGs, NAM onset and the child’s lip surgery were particularly stressful times. CGs used optimism, problem-solving behavior, and social support to cope with this stress. Qualitatively, CGs’ ability to balance cleft treatment demands with their psychosocial resources and coping strategies influenced family adaptation. Qualitative and quantitative results indicated CGs of NAM-treated infants experienced more rapid declines in anxiety and depressive symptoms and better coping skills over time than CGs whose infants had traditional care. Conclusion CGs of NAM-treated infants experienced more positive psychosocial outcomes than CGs whose infants had traditional care. Results from the mixed model support the Family Adjustment and Adaptation Response Model as used in pediatric chronic condition research. PMID:26280177

  4. Use of rotation flap in repair of cleft palate and velopharyngeal insufficiency.

    PubMed

    Isik, Daghan; Durucu, Cengiz; Isik, Yasemin; Atik, Bekir; Kocak, Omer Faruk; Karatas, Erkan; Bekerecioglu, Mehmet

    2011-07-01

    Although cleft palate anomaly is frequent, the criterion standards in surgical treatment have not been determined yet. There are a few techniques described for cleft palate repair owing to the limited tissue in the palatal mucosa, the rigid structure of the palatal mucosa, and the limited vascularity of the hard palate. In this study, a novel cleft palate repair technique based on separating the soft palate from the hard palate as a musculomucosal flap and using it as a rotation flap has been described. The operation is evaluated individually for each anomaly because variations occur in the surgical technique according to the extension of the cleft toward the teeth in the palate. This operation was performed on a total of 28 patients (17 girls and 11 boys) aged between 1.5 and 16 years and presented to our clinic. Patients were assessed for speech analysis outcomes, tympanogram values, hearing functions, magnitude of palatal lengthening during the operation, and rate of fistulae. Statistically significant differences in values of the speech analysis and the audiometric assessment were determined between before and 6 months after surgery. Complete recovery of otitis was observed 1 month after surgery without another treatment in 9 (42.8%) of 21 patients who were detected to have serous otitis media preoperatively. Tension-free closure, lower risk of fistula, good restoration of velopharyngeal functions, ability to be performed on all types of cleft palate, ability to provide a good intraoperative exposure, and being a single stage seem to be the most important advantages of this technique. PMID:21772216

  5. Prospective Analysis of Secondary Alveolar Bone Grafting in Cleft Lip and Palate Patients

    PubMed Central

    Reddy, M Gokul Chandra; Babu, V Ramesh; Rao, V Eswar; Chaitanya, J Jaya; Allareddy, S; Reddy, C Charan Kumar

    2015-01-01

    Background: To assess the success of the uptake of bone graft in cleft alveolus of the cleft lip and palate patients, quantitatively through computed tomography (CT) scan 6 months postoperative. To assess the successful eruption of permanent lateral incisor or canine in the bone grafted area. Materials and Methods: The children age group of 9-21 years with unilateral cleft lip and palate came to the hospital, needing secondary alveolar bone grafting. A detailed history and clinical examination of the patient was taken. A 3D CT scan was taken and the volume of the cleft was measured pre-operatively. After ambulatory period, 3D CT scan of the alveolar cleft region was taken and volume of the bone grafted was measured and patient was discharged from the hospital. After 6 months, patient was recalled and again 3D CT scan was taken and the volume of remaining bone was measured. Results: The mean volume of the defect pre-operatively is 0.80 cm3 with a standard deviation of 0.36 cm3 with minimum volume of the defect 0.44 cm3 and maximum volume of the defect 1.60 cm3. The mean volume of the bone post-operative immediately after grafting is 1.01 cm3 with a standard deviation of 0.52 cm3 with minimum of bone volume is 0.48 cm3 and maximum of 2.06 cm3. The mean volume of the bone after 6 months after bone grafting is 0.54 cm3 with a standard deviation of 0.33 cm3, minimum bone volume of 0.22 cm3 and maximum bone volume of 1.42 cm3. Conclusion: The CT scan is a valuable radiographic imaging modality to assess and follow the clinical outcome of secondary alveolar bone grafting. PMID:25954076

  6. 2012 American Board of Pediatric Dentistry College of Diplomates annual meeting: the role of pediatric dentists in the presurgical treatment of infants with cleft lip/cleft palate utilizing nasoalveolar molding.

    PubMed

    Ahmed, Mohammad M; Brecht, Lawrence E; Cutting, Court B; Grayson, Barry H

    2012-01-01

    The pediatric dentist plays a crucial role in the treatment and management of infants born with cleft deformities of the lip, alveolus, and palate. At New York University Langone Medical Center in New York City, 70% of infants with cleft lip/cleft palate (CLCP) are detected on prenatal ultrasound analysis. Thus, the role of the pediatric dentist can start as early as prenatal counseling. Nasoalveolar molding (NAM) is delivered during the first 3 to 5 months of life. During this stage of treatment, the pediatric dentist establishes the foundation of the “cleft dental” home and initiates the first stage of anticipatory guidance. Consequently, parents are educated and motivated to initiate oral hygiene care upon eruption of the first primary teeth. The purpose of this paper was to describe the role of the pediatric dentist in performing nasoalveolar molding and also describe its indications, appliance design, fabrication, biomechanics, complications, and patient management. PMID:23387096

  7. Bridging the gap: addressing challenges toward improvement of cleft teamwork in a tertiary care center in north India: a pilot study.

    PubMed

    Moghe, Gayatri; Mauli, Simratvir; Thomas, Abi; Obed, Vijay A E

    2013-07-01

    Aim : The aim of this study was the initiation of systematic data collection so as to improve the capacity for outcome measurement after cleft repair. Also, a clinical audit was done for evaluation of the process and assessment of outcomes of cleft care. Design and Setting : A questionnaire-based survey and outcome assessment was carried out over a 1-year period from March 2008 to February 2009 at the combined outpatient cleft clinic of a tertiary care center in India. Patients and Participants : Data collection (basic demographic and environmental information) was done twice a week throughout the year by students from the Department of Pediatric Dentistry, at the outpatient cleft clinic. Results : A total of 68 completed cleft lip and palate registry forms, from which all the information was available, were analyzed. There was a skewed sex ratio, with a higher preponderance of boys seeking treatment. Of affected males, 19.1% were between 2 and 5 years of age when they first reported to the cleft clinic. Surprisingly, no bilateral clefts of lip, unilateral cleft lip (right) and unilateral cleft lip and palate (right) were observed in girls. Oral health was poor in 74% of patients; among the dental referrals only 26% could be recruited for orthodontics with a reasonably good prognosis. Conclusions : Poverty, illiteracy, and superstitions prevent an average patient from India from receiving multidisciplinary cleft care. This emphasizes the need to create systems that suit the needs of our target patients. PMID:21973282

  8. Early Orthopedic Retraction of the Premaxilla in Bilateral Complete Cleft Lip and Palate: An Innovative Approach to a Difficult Problem.

    PubMed

    Mahmood, Rizwan; Flood, Tim; Robinson, Stephen; Al-Gholmy, Mohammed

    2016-05-01

    Bilateral cleft lip and palate occurs in 9.2% of cleft patients. Many approaches have been adopted to manage the protrusive premaxillary segment in patients with bilateral cleft lip and palate. Some advocate the use of intraoral appliances, occasionally combined with invasive surgery, which often requires revision at a later date. The authors describe the case of a 3-year-old child born with bilateral cleft lip and palate presenting with a protuberant premaxilla and an overjet greater than 25 mm. Prompt intervention was warranted in this case due to the potential for traumatic compromise to the dentition of the premaxillary segment and a distinct lack of social integration reported by the parents. The patient was managed with a novel, innovative approach using orthodontic traction and minimally invasive surgery. The literature has been reviewed and the patient's subsequent physiological and psychosocial development has been monitored. He has since undergone successful alveolar bone grafting. PMID:25647517

  9. Cleft lip and palate and related factors: A 10 years study in university hospitalised patients at Mashhad — Iran

    PubMed Central

    Noorollahian, Morteza; Nematy, Mohsen; Dolatian, Atiyeh; Ghesmati, Hengameh; Akhlaghi, Saeed; Khademi, Gholam Reza

    2015-01-01

    Background: Oral-facial clefts including cleft lip and palate are the most common congenital malformations of the head and neck. Environmental factors such as maternal hormonal disorders, use of psychiatric medications, vitamin and folic acid deficiency, hypoxia, cigarette smoking and maternal obesity and overweight can affect the incidence of these disorders. In Iran, one of the associated problems is a lack of accurate statistics regarding the present status of the patients, which can cause a disturbance in the health programmes of Ministry of Health and Medical Education. The aim of this study was to report the status of 398 cases of cleft lip and palate in Sheikh and Imam Reza Hospitals of Mashhad over a 10-year period. Materials and Methods: This retrospective descriptive study was performed using data collection method and included the evaluation of the recorded files and completing the data forms. In this study, the file records of 398 patients referring to Mashhad Sheikh and Imam Reza (P.U.H) Hospitals were studied, from the beginning of 2002 to the end of 2011; the obtained data from the files were collected and classified. Results: The highest frequency was related to cleft palate alone (40.7%); frequencies were lower regarding the cleft lip and palate and cleft lip alone (34.41% and 24.87%, respectively). Approximately, half of the patients were from rural areas of the city and had articulation disorders. Most of the patients were the first-born children of the family and their parents were consanguineously married; about one-third of the patients had a family history of the disease. Conclusion: According to the results of the present study, cleft lip is more frequent in males and cleft palate is more prevalent in females; the obtained results are consistent with the global statistics. PMID:26712297

  10. The incidence of congenital anomalies associated with cleft palate/cleft lip and palate in neonates in the Konya region, Turkey.

    PubMed

    Altunhan, Hüseyin; Annagür, Ali; Konak, Murat; Ertuğrul, Sabahattin; Ors, Rahmi; Koç, Hasan

    2012-09-01

    Additional congenital anomalies have often been found in patients with orofacial clefts. We wanted to find out the incidence and type of congenital malformations that may accompany cleft palate (CP) and cleft lip and palate (CLP) in babies born in the Konya region. A total of 121 newborn babies with CP or CLP were prospectively included in the study, and all were assessed in detail for congenital anomalies. Of 121 babies, 86 (71%) had CLP and 35 (29%) had CP. There was at least one congenital malformation in 80 (66%) of the cases. Additional congenital malformations were seen in 26 (74%) of the 35 with isolated CP, and 54 (63%) in the 86 patients with CLP (p<0.05). The most common congenital malformation was congenital heart disease, followed by head and neck anomalies. The most common congenital heart disease was atrial septal defect. A serious chromosomal anomaly was found in 18/121 patients with CP or CLP (15%). Of the 80 babies in whom congenital malformations were found, 31 (39%) had dysmorphic features. While 21 (68%) of dysmorphic cases had isolated CP, 10 (32%) had CLP (p<0.05). The rates of premature delivery, intrauterine growth retardation, and consanguinity between parents were higher in patients with CP or CLP. The neonatal mortality was 20% (n=24). Our results indicate that at least one congenital anomaly is also present in about two-thirds of newborn babies with CP and CLP, and these anomalies significantly increase their morbidity and mortality. All newborn babies with CP and CLP should be screened for additional congenital anomalies, particularly of the cardiovascular system. PMID:21880407

  11. Do patients with isolated Pierre Robin Sequence have worse outcomes after cleft palate repair: A systematic review.

    PubMed

    Wan, Teng; Chen, Yang; Wang, Guomin

    2015-08-01

    Cleft palate repair for Pierre Robin Sequence (PRS) patients has always been a challenge for surgeons and anesthetists. The aim of this systematic review is to investigate the outcome of cleft palate repair for PRS patients compared with cleft palate-only patients. All papers published before October 2014 were searched in the databases PubMed and MEDLINE. Search terms included "Pierre Robin Sequence," "cleft palate repair," and "speech result." Additional studies were identified by hand searching the reference lists of the papers retrieved from electronic search. Two independent reviewers assessed the eligibility of studies for inclusion, extracted the data, and assessed the quality of the studies. Six studies met the inclusion criteria. All but one study had multiple deficiencies in study designs. Four studies assessed the fistula rate of both groups, and all studies assessed some aspect of the speech results. Conflicting results and a lack of high-quality and long-term outcomes of reviewed studies provided no conclusive scientific evidence about whether the outcome of cleft palate repair for PRS patients was better or worse than cleft palate-only patients. Further well-designed, well-controlled, and long-term studies are needed. PMID:26187812

  12. Comparative Evaluation of Prevalence of Upper Cervical Vertebrae Anomalies in Cleft Lip/Palate Patients: A Retrospective Study

    PubMed Central

    Datana, Sanjeev; Kumar, Prasanna; Kumar Roy, Supriya; Londhe, Sanjay

    2014-01-01

    ABSTRACT% Purpose: The patients with cleft lip and palate have a higher risk of cervical vertebrae anomalies than do patients in general population. The aim of present study was to determine the prevalence of various upper cervical spine anomalies in different type of clefts. Procedures: Lateral cephalograms of 128 patients (66 males, 62 females) with cleft lip and palate, and 125 (60 males, 65 females) non syndromic patients without cleft lip and palate were selected at random from archive. Cephalograms of the patients were traced and the diagnosis of any cervical vertebrae anomaly was noted. Anomalies were categorized as either: posterior arch deficiency or fusions. Main findings: Prevalence of cervical vertebrae anomalies in the c lef t group was 20. 3% while it was 6.4% in the control group. Further cervical vertebrae anomalies were 16.6% in the CPO group, 19.1% in the BCLP group, and 22.2% in the UCLP group. Conclusion: A higher prevalence of cervical vertebrae anomalies was observed in cleft lip and palate patients. The prevalenc e obser ved is 3 times more in clef t group than c ontrol group. How to cite this article: Datana S, Bhalla A, Kumar P, Roy SK, Londhe S. Comparative Evaluation of Prevalence of Upper Cervical Vertebrae Anomalies in Cleft Lip/Palate Patients: A Retrospective Study. Int J Clin Pediatr Dent 2014;7(3):168-171. PMID:25709295

  13. Preoperative non-surgical over-correction of cleft lip nasal deformity.

    PubMed

    Matsuo, K; Hirose, T

    1991-01-01

    Alar cartilage, which is elastic like auricular cartilage, is correctable in the early neonatal period. Taking advantage of this correctability, we have performed preoperative non-surgical over-correction for cleft lip nasal deformity of incomplete and complete cleft lips with a Simonart's band. The device for this correction was made by processing a nostril retainer into a nostril over-corrector which utilises a spring of silicone rubber, works like a tissue expander and is supported by the nostril floor. Twenty cases are reviewed whose follow-up lasted more than 19 months. The earlier the non-surgical over-correction began, the more satisfactory were the results that were obtained. PMID:1993238

  14. The search for hemizygosity at 22qll in patients with isolated cleft palate.

    PubMed

    Mingarelli, R; Digilio, M C; Mari, A; Amati, F; Standoli, L; Giannotti, A; Novelli, G; Dallapiccola, B

    1996-01-01

    The striking association between oral clefting and the velocardio-facial syndrome (VCFS), a common disorder pathogenetically related to 22q11 deficiency, has prompted the search for this deletion in a group of patients with isolated cleft palate. (CP). Thirty-three patients with posterior CP and 5 with complete CP were included in this study, together with 12 patients with a clinical diagnosis of VCFS. Standard and high resolution chromosome analysis was performed, providing normal results. Southern blotting followed by densitometric analysis and fluorescent in situ hydridization of region 22q11 showed no single case of deletion among the isolated CP patients, while deficiency was found in 10 of 12 VCFS patients. These results demonstrate that hemizygosity at 22q11 is not increased in isolated CP. PMID:8773902

  15. Solitary median maxillary central incisor syndrome associated with unique cleft palate: a rare case report.

    PubMed

    Holla, Goda; Ramakrishna, Yeluri; Holla, Anup; Munshi, Autar Krishen

    2014-01-01

    Solitary median maxillary central incisor (SMMCI) syndrome is a rare dental anomaly that affects 1:50,000 live births. SMMCI syndrome is characterized by the presence of a single central incisor located on the maxillary midline in both primary and permanent dentitions. It may occur as an isolated finding or in association with developmental defects and systemic involvement. Congenital anomalies associated with SMMCI syndrome can include short stature, mild forms of deviation in craniofacial morphology, mild to severe intellectual disability, congenital heart disease, and cleft lip and/or palate. This report describes a clinical case of a 7-year-old girl with SMMCI syndrome--in addition to bilateral residual cleft and associated nasal regurgitation--that was treated with a removable maxillary obturator. PMID:24598504

  16. An innovative technique to restore velopharyngeal incompetency for a patient with cleft lip and palate.

    PubMed

    Ahmad, Manawar; Dhanasekar, B; Aparna, I N; Naim, Hina

    2013-01-01

    Treatment of cleft lip and palate patients often demand well-coordinated work of medical and dental specialists. In spite of surgical and orthodontic therapy, prosthetic rehabilitation is always necessary because of partial anadontia, maxillary hypoplasia and velopharyngeal dysfuction. The aim of the prosthetic treatment is to improve aesthetics, function and speech of the patients; however, factors like underdeveloped and collapsed maxillary arch, retrognathic maxilla and reduced alveolar ridge height make the treatment challenging. This clinical report describes an interdisciplinary approach for the management of cleft lip and palate patient associated with mutilated dentition. The prosthetic phase began along with orthodontic treatment to achieve sufficient space distribution, which was restored with fixed dental prosthesis to stabilise the achieved status of occlusion. Palatal lift prosthesis was fabricated to restore the velopharyngeal incompetency with an innovative technique using 'standard orthodontic expansion screw' to eliminate hypernasality, decrease intelligibility of speech and to aid in deglutition. PMID:23821635

  17. Morphometric analysis of brain shape in children with nonsyndromic cleft lip and/or palate

    PubMed Central

    Chollet, Madeleine B.; DeLeon, Valerie B.; Conrad, Amy L.; Nopoulos, Peg

    2013-01-01

    The purpose of this study was to test for differences in brain shape among children with cleft palate only (CP) (n = 22), children with cleft lip and palate (CLP) (n = 35), and controls (n = 39) using Euclidean distance matrix analysis. Sixteen percent of interlandmark distances differed between children with CP and controls, 10% differed between children with CLP and controls, and 10% differed between children with CP and children with CLP. Major differences in brain shape associated with CL/P included posterior expansion of the occipital lobe, reorientation of the cerebellum, heightened callosal midbody, and posterior displacement of the caudate nucleus and thalamus. Differences in brain shape unique to CP and to CLP were also identified. These results expand upon previous volumetric studies on brain morphology in individuals with CL/P and provide additional evidence that the primary defect in CL/P results in both facial and brain dysmorphology. PMID:24381208

  18. Telescopic crowns in adult case with lip and palate cleft. Update on the etiology and management.

    PubMed

    Mañes Ferrer, José Félix; Martínez González, Amparo; Oteiza Galdón, Begoña; Bouazza Juanes, Kheira; Benet Iranzo, Francisco; Candel Tomás, Ana

    2006-07-01

    Lip and palatal clefts are among the most important congenital craniofacial malformations to be taken into account in general dental practice, due to their high incidence and important repercussions upon the oral cavity. The underlying causes are genetic and fundamentally environmental, and the disorders manifest as early as in the embryonic period. Males are predominantly affected, with a 7:3 ratio versus females. Our patient, a 20-year-old male, presented the most common association, i.e., total unilateral hare lip with palatal cleft. A description is provided of the treatment for his dental problem, together with an update on the etiology and management of adults with malformations of this kind. PMID:16816823

  19. A bibliometric analysis of the 50 most cited papers in cleft lip and palate.

    PubMed

    Mahon, Nicola A; Joyce, Cormac W

    2015-02-01

    Citation analysis is an established bibliometric method which catalogues papers according to the number of times they have been referenced. It is believed that the total number of citations an article receives reflects its importance among its peers. Never before has a bibliometric analysis been performed in the area of Cleft Lip and Palate. Our citation analysis creates a comprehensive list of the 50 most influential papers in this field. Journals specializing in Cleft Palate, Craniofacial, Plastic Surgery, Maxillofacial Surgery, Aesthetics and Radiology were searched to establish which articles most enriched the specialty over the past 70 years. The results show an interesting collection of papers which reveal developing trends in surgical techniques. These landmark papers mould and influence management and decision-making today. PMID:25196126

  20. International confederation for cleft lip and palate and related craniofacial anomalies task force report: beyond eurocleft.

    PubMed

    Semb, Gunvor

    2014-11-01

    The assigned objective for the Task Force Beyond Eurocleft was "to make recommendations for initiations of local and/or participation in multi-national cleft outcome studies and consist of individuals from the European experience with cleft outcome studies (Scandcleft, Eurocleft) and those who have initiated, or intend to initiate, similar studies in other geographical areas." By May 2013 the Task Force (TF) consisted of 183 members from 59 countries. It was agreed that this initiative should be truly global and include all cleft specialties as well as representatives from cleft support groups in recognition of the huge commitment for improving cleft care worldwide. The vision for this group is to build a dynamic, well-functioning TF that will work globally and be multidisciplinary with inclusive and respectful behavior to improve care for all individuals born with cleft lip and/or palate. As there is a large diversity in needs and interest in the group a range of parallel approaches would be required depending on the experience, resources, and challenges of regions, teams, and individuals. Important ideas for future work were: (1) Work on a global survey of access, existing outcome studies, current collaborations, and lessons learned. (2) Work towards the creation of a lasting, living resource for newcomers to intercenter collaboration that is kept fresh with new reports, copies of relevant publications, model grant applications, and a list of volunteers with the right experience to provide support and guidance for new initiatives. (3) Develop simple online training modules to provide information about the benefits and principles of multidisciplinary care, collaborative data collection and auditing short and longer-term outcomes. (4) Establish subgroups that will work within all regions of the world with regional and national leaders identified. An evaluation of current standards of care should be undertaken and country/region specific remedies to optimize

  1. Single-layer Closure with Tongue Flap for Palatal Fistula in Cleft Palate Patients

    PubMed Central

    Alsalman, Abdulla K.; Alwabari, Mufeed Saeed; Almugarrab, Fatimah Jawad

    2016-01-01

    Background: Tongue flap is a good option to close a complicated palatal fistula in cleft patients. Most surgeons advocate a double-layer closure to decrease the recurrence rates. In this study, we have reported our experience with a modified single-layer closure with tongue flap in cleft patients. Method: All cases done by a single surgeon using this modified technique in a period of 10 years were retrospectively reviewed. A thorough description of this technique is also provided in the study. Results: Only 5 cases were operated on using this technique. The success rate of all these cases was 100%, with no recurrence of fistula and few complications. Conclusions: This technique provides a way to avoid nasal layer closure in cases where nasal layer is difficult or impossible to close. It also limits the need for a second flap for nasal layer closure.

  2. Had prevalence of cleft lip and palate differed during the Iran-Iraq war?

    PubMed

    Jahanbin, Arezoo; Kianifar, Hamidreza; Yaghoubi-Al, Zahra; Malekian, Arash; Keikhaee, Bijan; Hasanzadeh, Nadia; Ezzati, Atefeh

    2013-05-01

    Cleft lip and palate are among the most common congenital defects with multifactorial etiology, and maternal stress may have a role in the development of the malformation; thus, the aim of this study was to explore the role of war on cleft lip and palate (CL/P) prevalence.In this study, records of 101,435 newborn infants delivered in the teaching hospitals of Mashhad and Ahwaz during wartime (1982-1987) and recent years (2005-2010) were reviewed. Samples were analyzed for prevalence of anomaly in both cities at 2 time intervals as well as some related factors; χ and t tests were used for data analysis.Results showed the incidences of CL/P in Mashhad during 1982 to 1987 and 2005 to 2010 were 2 and 2.2 per 1000 live births, respectively; however, its incidence in Ahwaz was 1 per 1000 during wartime and 0.7 per 1000 live births for recent years.Despite significant differences that were found in the prevalence of both cities in recent years (P = 0.001), no significant differences were observed during wartime (P = 0.28).The results revealed that CL/P was more prevalent in both cities, but in contrast to Ahwaz, cleft lip was more prevalent than isolated cleft palate in Mashhad, and significant differences were found between both cities (P = 0.007).The study concluded that the prevalence of CL/P in Ahwaz decreased after the war. However, in Mashhad, its prevalence, which was not affected during wartime, gradually increased. Thus, genetic research may be necessary to establish a genetic predisposition in northeast Iran. PMID:23714889

  3. Hypohidrotic ectodermal dysplasia with ankylosis of temporomandibular joint and cleft palate: A rare presentation

    PubMed Central

    Goyal, Manisha; Pradhan, Gaurav; Gupta, Sunita; Kapoor, Seema

    2015-01-01

    The ectodermal dysplasias are a heterogenous group of diseases, which have one or more anomalies of the hair, teeth, nails, and sweat glands. Hypohidrotic ectodermal dysplasia (HED) is the most common type and is usually transmitted as an X-linked recessive trait. It is characterized by classical triad of hypotrichosis, anhidrosis/hypohidrosis, and hypodontia/anodontia. Here, we describe an Indian boy affected with HED and rare features including ankylosis of temporomandibular joint and cleft palate. PMID:25684924

  4. Orthodontically guided bone transport in the treatment of alveolar cleft: A case report

    PubMed Central

    Gómez, Elena; Otero, Marta; Berraquero, Rosario; Wucherpfennig, Begona; Hernández-Godoy, Juan; Guiñales, Jorge; Vincent, Germán; Burgueño, Miguel

    2016-01-01

    Introduction Conventional treatments are sometimes not possible in certain alveolar cleft cases due to the severity of the gap which separates the fragments. Various management strategies have been proposed, including sequential surgical interventions or delaying treatment until adulthood to then carry out maxillary osteotomies. A further alternative approach has also been proposed, involving the application of bone transport techniques to mobilise the osseous fragments and thereby reduce the gap between lateral fragments and the premaxilla. Case Report We introduce the case of a 10-year-old patient who presented with a bilateral alveolar cleft and a severe gap. Stable occlusion between the premaxilla and the mandible was achieved following orthodontic treatment, making it inadvisable to perform a retrusive osteotomy of the premaxilla in order to close the alveolar clefts. Faced with this situation, it was decided we would employ a bone transport technique under orthodontic guidance using a dental splint. This would enable an osseous disc to be displaced towards the medial area and reduce the interfragmentary distance. During a second surgical intervention, closure of the soft tissues was performed and the gap was filled in using autogenous bone. Conclusions The use of bone transport techniques in selected cases allows closure of the osseous defect, whilst also preserving soft tissues and reducing the amount of bone autograft required. In our case, we were able to respect the position of the premaxilla and, at the same time, generate new tissues at both an alveolar bone and soft tissue level with results which have remained stable over the course of time. Key words:Alveolar cleft, bone transport, graft. PMID:26855699

  5. Keratoconus posticus circumscriptus, cleft lip and palate, genitourinary abnormalities, short stature, and mental retardation in sibs

    PubMed Central

    Young, I D; Macrae, W G; Hughes, H E; Crawford, J S

    1982-01-01

    This paper describes two sibs in each of whom Keratoconus posticus circumscriptus is associated with multiple abnormalities. These include short stature, mental retardation, cleft lip and palate, and vertebral anomalies. The authors have been unable to trace any former reports of an identical condition and suggest that the findings in these children may represent a previously unrecognised malformation syndrome showing probable autosomal recessive inheritance. Images PMID:7143385

  6. Genetic risk factors for orofacial clefts in Central Africans and Southeast Asians.

    PubMed

    Figueiredo, Jane C; Ly, Stephanie; Raimondi, Haley; Magee, Kathy; Baurley, James W; Sanchez-Lara, Pedro A; Ihenacho, Ugonna; Yao, Caroline; Edlund, Christopher K; van den Berg, David; Casey, Graham; DeClerk, Yves A; Samet, Jonathan M; Magee, William

    2014-10-01

    Genome-wide association studies (GWAS) for orofacial clefts have identified several susceptibility regions, but have largely focused on non-Hispanic White populations in developed countries. We performed a targeted genome-wide study of single nucleotide polymorphisms (SNPs) in exons using the Illumina HumanExome+ array with custom fine mapping of 16 cleft susceptibility regions in three underserved populations: Congolese (87 case-mother, 210 control-mother pairs), Vietnamese (131 case-parent trios), and Filipinos (42 case-mother, 99 control-mother pairs). All cases were children with cleft lip with or without cleft palate. Families were recruited from local hospitals and parental exposures were collected using interviewer-administered questionnaires. We used logistic regression models for case-control analyses, family-based association tests for trios, and fixed-effect meta-analyses to determine individual SNP effects corrected for multiple testing. Of the 16 known susceptibility regions tested, SNPs in four regions reached statistical significance in one or more of these populations: 1q32.2 (IRF6), 10q25.3 (VAX1), and 17q22 (NOG). Due to different linkage disequilibrium patterns, significant SNPs in these regions differed between the Vietnamese and Filipino populations from the index SNP selected from previous GWAS studies. Among Africans, there were no significant associations identified for any of the susceptibility regions. rs10787738 near VAX1 (P = 4.98E-3) and rs7987165 (P = 6.1E-6) were significant in the meta-analysis of all three populations combined. These results confirm several known susceptibility regions and identify novel risk alleles in understudied populations. PMID:25099202

  7. Minimally Painful Local Anesthetic Injection for Cleft Lip/Nasal Repair in Grown Patients

    PubMed Central

    Price, Christopher; Wong, Alison L.; Chokotho, Tilinde

    2014-01-01

    Introduction: There has been a recent interest in injecting large body and face areas with local anesthetic in a minimally painful manner. The method includes adherence to minimal pain injection details as well feedback from the patient who counts the number of times he feels pain during the injection process. This article describes the successes and limitations of this technique as applied to primary cleft lip/nasal repair in grown patients. Methods: Thirty-two primary cleft lip patients were injected with local anesthesia by 3 surgeons and then underwent surgical correction of their deformity. At the beginning of the injection of the local anesthetic, patients were instructed to clearly inform the injector each and every time they felt pain during the entire injection process. Results: The average patient felt pain only 1.6 times during the injection process. This included the first sting of the first 27-gauge needle poke. The only pain that 51% of the patients felt was that first poke of the first needle; 24% of the patients only felt pain twice during the whole injection process. The worst pain score occurred in a patient who felt pain 6 times during the injection process. Ninety-one percent of the patients felt no pain at all after the injection of the local anesthetic and did not require a top-up. Conclusion: It is possible to successfully and reliably inject local anesthesia in a minimally painful manner for cleft lip and nasal repair in the fully grown cleft patient. PMID:25289364

  8. Lessons learned from two consecutive cleft lip and palate missions and the impact of patient education.

    PubMed

    Schönmeyr, Björn; Restrepo, Carolina; Wendby, Lisa; Gillenwater, Justin; Campbell, Alex

    2014-09-01

    Two consecutive cleft missions were conducted in Guwahati, northeastern India in December 2010 and January 2011. In the later mission, a standardized patient education program for postoperative care was introduced. The objective of this study was to retrospectively evaluate the impact of the patient education program on cleft lip complications in terms of wound infection and dehiscence. Two hundred ninety-eight cleft lip repairs were performed in the first mission and 220 (74%) returned for early follow-up. In the second mission, 356 patients were operated on and 252 (71%) returned for follow-up. From the first mission, 8 patients (3.7%) were diagnosed with lip wound infection and 21 patients (9.6%) with lip dehiscence. After the second mission, only 1 patient (0.4%) returned with a wound infection and 16 (6.4%) were diagnosed with dehiscence.Using binary logistic regression including age, cleft type, postoperative antibiotics, surgeon, and patient education program as covariates, the patient education program stood out as the only variable with a statistically significant impact on the incidence of postoperative wound infections. Even though the incidence of lip dehiscence was reduced by one third when the patient education program was utilized, our regression model singled out the surgeons as the only factor significantly related to this type of complication. Moreover, no benefits of postoperative antibiotic prophylaxis were found. Further analysis of the data also implied that the use of tissue adhesive as a compliment to sutures does not reduce the risk of dehiscence. PMID:25148620

  9. Anesthetic challenges in managing a case of type III laryngo-tracheo-esophageal cleft

    PubMed Central

    Rajmohan, Nisha; Prakasam, Hassy; Francis, Johny V

    2012-01-01

    Laryngo-tracheo-esophageal cleft (LTEC) is a rare congenital anomaly characterized by failure of fusion of the cricoid cartilage posteriorly and incomplete development of the tracheo-esophageal septum. Securing the airway during anesthesia in patients with LTEC, especially in the severe forms is a challenge. We describe the anesthetic management and the airway challenges in a neonate with type III LTEC who underwent bronchoscopy and repair of LTEC. PMID:23225937

  10. Anesthetic challenges in managing a case of type III laryngo-tracheo-esophageal cleft.

    PubMed

    Rajmohan, Nisha; Prakasam, Hassy; Francis, Johny V

    2012-10-01

    Laryngo-tracheo-esophageal cleft (LTEC) is a rare congenital anomaly characterized by failure of fusion of the cricoid cartilage posteriorly and incomplete development of the tracheo-esophageal septum. Securing the airway during anesthesia in patients with LTEC, especially in the severe forms is a challenge. We describe the anesthetic management and the airway challenges in a neonate with type III LTEC who underwent bronchoscopy and repair of LTEC. PMID:23225937

  11. Laryngeal cleft type I: a novel method of repair using Bioplastique.

    PubMed

    Ahluwalia, S; Pothier, D; Philpott, J; Sengupta, P; Frosh, A

    2004-08-01

    The authors report a novel treatment of a case of type I laryngeal cleft diagnosed in an adult. They describe a technique of endoscopic obliteration of the posterior commissure defect. Initially, a test implant of starch and adrenaline was used, followed by permanent staged injections of Bioplastique to the posterior commissure. This rare congenital anomaly usually presents in childhood but late presentation should be considered when adults present with lifelong dysphonia especially when associated with gastro-oesophageal reflux disease. PMID:15453945

  12. Phonological Processes in the Speech of Jordanian Arabic Children with Cleft Lip and/or Palate

    ERIC Educational Resources Information Center

    Al-Tamimi, Feda Y.; Owais, Arwa I.; Khabour, Omar F.; Khamaiseh, Zaidan A.

    2011-01-01

    The controlled and free speech of 15 Jordanian male and female children with cleft lip and/or palate was analyzed to account for the different phonological processes exhibited. Study participants were divided into three main age groups, 4 years 2 months to 4 years 7 months, 5 years 3 months to 5 years 6 months, and 6 years 4 months to 6 years 6…

  13. Normative Velopharyngeal Data in Infants: Implications for Treatment of Cleft Palate.

    PubMed

    Schenck, Graham C; Perry, Jamie L; Fang, Xiangming

    2016-09-01

    Identifying normative data related to velopharyngeal muscles and structures may have clinical significance for infants born with cleft palate, especially as they relate to selection of surgical intervention and postsurgical outcomes. Previous studies suggest that patients whose anatomy postsurgically is dissimilar to that of their normative counterparts are at risk for hypernasal speech. However, studies have not documented what constitutes "normal" anatomy for the clinically relevant population-that is, the infant population. The purpose of this study is to examine a magnetic resonance imaging database (n = 29) related to normative velopharyngeal structures and provide a preliminary comparison to 2 selected patients with repaired cleft palate. Twenty-nine healthy infants between 9 and 23 months of age (mean = 15.2 months) with normal craniofacial and velopharyngeal anatomy were recruited to participate in this study. Normative data were compared to 2 infants with repaired cleft palate between 13 and 15 months of age (mean = 14 months). Quantitative craniometric and velopharyngeal measures from the sagittal and oblique coronal image planes were collected. Variables of interest included: levator muscle, velar, and craniometric measures. Females demonstrated significantly larger intravelar segments compared with males. White infants demonstrated significantly larger levator muscles compared to non-white infants. Infants with repaired cleft palate demonstrated increased overall levator muscle length and levator extravelar length compared with infants with normal velopharyngeal anatomy.Data from the present study provide a normative database for future investigators to utilize as a comparative tool when evaluating infants with normal and abnormal velopharyngeal anatomy. PMID:27607114

  14. Spectral Analysis of Hypernasality in Cleft Palate Children: A Pre-Post Surgery Comparison

    PubMed Central

    Narra, Manjunath; Varghese, Sneha Mareen; Deepak, Dessai Teja

    2016-01-01

    Introduction Change in resonance is the most commonly experienced speech problems in children diagnosed with cleft lip and palate. The degree of nasality during normal speech production is maintained by the changes in velopharyngeal port. These variations in speech signal are reported to be successfully captured using acoustical tools like spectral analysis. Aim The present study investigated to note voice low tone to high tone ratio (VLHR) values for phonation samples of individuals with cleft palate before and after surgery. Materials and Methods Thirty children with congenital cleft of palate within 8 to 15 years of age participated in the study. Three trials of sustained vowels (/a/,/i/ and /u/) were recorded at their comfortable pitch and loudness level in a noise free room using a hand held dynamic microphone. Praat software that utilized Hillenbrand algorithm was used to extract the VLHR values for samples recorded before and after recovery from the surgery. Results Statistical analysis revealed significant decrease in VLHR values after surgery in comparison to before the surgery. Analysis of Variance revealed statistical significant difference at 95% confidence level. Conclusion It is concluded that VLHR parameter could be used as an index to measure nasality and can be included in the routine tool assessment protocol. PMID:26894098

  15. Fully Human VH Single Domains That Rival the Stability and Cleft Recognition of Camelid Antibodies*

    PubMed Central

    Rouet, Romain; Dudgeon, Kip; Christie, Mary; Langley, David; Christ, Daniel

    2015-01-01

    Human VH single domains represent a promising class of antibody fragments with applications as therapeutic modalities. Unfortunately, isolated human VH domains also generally display poor biophysical properties and a propensity to aggregate. This has encouraged the development of non-human antibody domains as alternative means of antigen recognition and, in particular, camelid (VHH) domains. Naturally devoid of light chain partners, these domains are characterized by favorable biophysical properties and propensity for cleft binding, a highly desirable characteristic, allowing the targeting of cryptic epitopes. In contrast, previously reported structures of human VH single domains had failed to recapitulate this property. Here we report the engineering and characterization of phage display libraries of stable human VH domains and the selection of binders against a diverse set of antigens. Unlike “camelized” human domains, the domains do not rely on potentially immunogenic framework mutations and maintain the structure of the VH/VL interface. Structure determination in complex with hen egg white lysozyme revealed an extended VH binding interface, with complementarity-determining region 3 deeply penetrating into the active site cleft, highly reminiscent of what has been observed for camelid domains. Taken together, our results demonstrate that fully human VH domains can be constructed that are not only stable and well expressed but also rival the cleft binding properties of camelid antibodies. PMID:25737448

  16. Developing a visual rating chart for the esthetic outcome of unilateral cleft lip and palate repair

    PubMed Central

    Adeola, A. Olusanya; Oladimeji, A. Akadiri

    2015-01-01

    Introduction: Aesthetic impairment is a major concern for the cleft lip/palate patient. Thus, auditing of postsurgical esthetic outcome needs to be further explored as till date no universally accepted protocol exists. The study objective was to propose a new visual rating chart (VRC) for the aesthetic outcome of cleft lip and palate (CLP) surgery. Materials and Methods: In a retrospective review of 200 repaired clefts, the common esthetic deficiencies were identified, categorized and ranked in the order of severity. A chart of the illustrative diagram with textual description of the defects was produced and used as a basis for rating outcome by two groups of raters (familiar raters and recruited raters). Intra- and inter-raters reliability was estimated using Cohen's kappa statistics and intra-class correlation coefficient (ICC). Comparison between mean group coefficient was achieved with Kendall's correlation coefficient of concordance. Results: The intra- and inter-rater reliability for familiar raters was found to be strong with kappa values range of 0.80–0.87 (P < 0.001). Similarly, inter-raters’ reliability by recruited judges was very strong using ICC at both single (0.768) and average measures (0.982). Conclusion: The VRC is a reliable tool for assessing the esthetic outcome of CLP repairs. PMID:26389035

  17. Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome.

    PubMed Central

    Slaney, S. F.; Oldridge, M.; Hurst, J. A.; Moriss-Kay, G. M.; Hall, C. M.; Poole, M. D.; Wilkie, A. O.

    1996-01-01

    Apert syndrome is a distinctive human malformation characterized by craniosynostosis and severe syndactyly of the hands and feet. It is caused by specific missense substitutions involving adjacent amino acids (Ser252Trp or Pro253Arg) in the linker between the second and third extracellular immunoglobulin domains of fibroblast growth factor receptor 2 (FGFR2). We have developed a simple PCR assay for these mutations in genomic DNA, based on the creation of novel (SfiI) and (BstUI) restriction sites. Analysis of DNA from 70 unrelated patients with Apert syndrome showed that 45 had the Ser252Trp mutation and 25 had the Pro253Arg mutation. Phenotypic differences between these two groups of patients were investigated. Significant differences were found for severity of syndactyly and presence of cleft palate. The syndactyly was more severe with the Pro253Arg mutation, for both the hands and the feet. In contrast, cleft palate was significantly more common in the Ser252Trp patients. No convincing differences were found in the prevalence of other malformations associated with Apert syndrome. We conclude that, although the phenotype attributable to the two mutations is very similar, there are subtle differences. The opposite trends for severity of syndactyly and cleft palate in relation to the two mutations may relate to the varying patterns of temporal and tissue-specific expression of different fibroblast growth factors, the ligands for FGFR2. Images Figure 1 Figure 2 Figure 3 Figure 4 PMID:8651276

  18. The 20th century Danish facial cleft population--epidemiological and genetic-epidemiological studies.

    PubMed

    Christensen, K

    1999-03-01

    Since Dr. Fogh-Andersen's legendary 1942 thesis, the Danish facial cleft population has been one of the most extensively studied in terms of epidemiology and genetic-epidemiology. The etiology of cleft lip and/or palate (CLP) is still largely an enigma, and different results concerning environmental and genetic risk factors are obtained in different countries and regions. This may be due to etiological heterogeneity between settings. Therefore, an in-depth studied area with an ethnically homogeneous population, such as Denmark, has provided one of the best opportunities for progress in CLP etiological research. The present review summarizes epidemiological and genetic-epidemiological studies conducted in the 20th century Danish facial cleft population. Furthermore, analyses of sex differences, time trends and seasonality for more than 7000 CLP cases born in Denmark in the period 1936 to 1987 are presented. The review also points toward the excellent opportunities for continued etiological CLP research in Denmark in the 21st century using already established resources and an on-going prospective cohort study of 100,000 pregnant women. PMID:10213053

  19. Analysis of the genetic ancestry of patients with oral clefts from South American admixed populations.

    PubMed

    Vieira-Machado, Camilla D; de Carvalho, Flavia M; Santana da Silva, Luiz C; Dos Santos, Sidney E; Martins, Claudia; Poletta, Fernando A; Mereb, Juan C; Vieira, Alexandre R; Castilla, Eduardo E; Orioli, Iêda M

    2016-08-01

    Increased susceptibility to cleft lip, with or without cleft palate (CL±P) has been observed in South America, as related to Amerindian ancestry, using epidemiological data, uniparental markers, and blood groups. In this study, it was evaluated whether this increased risk remains when Amerindian ancestry is estimated using autosomal markers and considered in the predictive model. Ancestry was estimated through genotyping 62 insertion and deletion (INDEL) markers in sample sets of patients with CL±P, patients with cleft palate (CP), and controls, from Patagonia in southern Argentina and Belém in northern Brazil. The Amerindian ancestry in patients from Patagonia with CL±P was greater than in controls although it did not reach statistical significance. The European ancestry in patients with CL±P from Belém and in patients with CP from Belém and Patagonia was higher than in controls and statistically significant for patients with CP who were from Belém. This high contribution of European genetic ancestry among patients with CP who were from Belém has not been previously observed in American populations. Our results do not corroborate the currently accepted risks for CL±P and CP estimated by epidemiological studies in the North American populations and probably reflect the higher admixture found in South American ethnic groups when compared with the same ethnic groups from the North American populations. PMID:27105611

  20. Craniofacial variability and morphological integration in mice susceptible to cleft lip and palate

    PubMed Central

    Hallgrímsson, Benedikt; Dorval, Curtis J; Zelditch, Miriam Leah; German, Rebecca Z

    2004-01-01

    A/WySnJ mice are an inbred strain that develops cleft lip with or without cleft palate (CL/P) with a frequency of 25–30% and a predominantly unilateral expression pattern. As in humans, the pattern of incomplete penetrance, and variable and frequent unilateral expression suggests a role for altered regulation of variability (developmental stability, canalization and developmental integration) during growth. We compared both mean and variability parameters for craniofacial shape and size among A/WySnJ mice, a strain that does not develop CL/P (C57BL/6J) and their F1 cross. We show that adult A/WySnJ mice that do not express cleft lip exhibit decreased morphological integration of the cranium and that the co-ordination of overall shape and size variation is disrupted compared with both C57BL/6J mice and the F1 cross. The decrease in integration is most pronounced in the palate and face. The absence of this pattern in the F1 cross suggests that it is determined by recessive genetic factors. By contrast, the shape differences between the strains, which are thought to predispose A/WySnJ mice to CL/P, show a range of dominance which suggests a polygenic basis. We suggest that decreased integration of craniofacial growth may be an aetiological factor for CL/P in A/WySnJ mice. PMID:15610397