Genomes and Genes
Experts and Doctors on cleft palate in United States
Locale: United States
Topic: cleft palate
- Friedman M, Miletta N, Roe C, Wang D, Morrow B, Kates W, et al. Cleft palate, retrognathia and congenital heart disease in velo-cardio-facial syndrome: a phenotype correlation study. Int J Pediatr Otorhinolaryngol. 2011;75:1167-72 pubmed publisher..Much work remains to be done to fully understand the complex relationships between phenotypic characteristics in VCFS. ..
- Lewis C, Ose M, Aspinall C, Omnell M. Community orthodontists and craniofacial care: results of a Washington state survey. Cleft Palate Craniofac J. 2005;42:521-5 pubmed..These would include developing an organized training, referral, and communication system between community orthodontists and state craniofacial teams and considering a case-management approach to facilitate this process. ..
- Vallino Napoli L, Riley M, Halliday J. An epidemiologic study of orofacial clefts with other birth defects in Victoria, Australia. Cleft Palate Craniofac J. 2006;43:571-6 pubmed..Although some findings confirmed other population-based studies, some continued to be at variance. Nonetheless, the data derived support examination of babies diagnosed with clefts for associated comorbidities. ..
- Magee W, Vander Burg R, Hatcher K. Cleft lip and palate as a cost-effective health care treatment in the developing world. World J Surg. 2010;34:420-7 pubmed publisher..The authors conclude that secondary interventions alleviate disability and should enable an individual to approach a zero residual disability weight. ..
- Garfinkle J, King T, Grayson B, Brecht L, Cutting C. A 12-year anthropometric evaluation of the nose in bilateral cleft lip-cleft palate patients following nasoalveolar molding and cutting bilateral cleft lip and nose reconstruction. Plast Reconstr Surg. 2011;127:1659-67 pubmed publisher..5 years of age. ..
- Dentino K, Marrinan E, Brustowicz K, Mulliken J, Padwa B. Pharyngeal Flap Is Effective Treatment for Post Maxillary Advancement Velopharyngeal Insufficiency in Patients With Repaired Cleft Lip and Palate. J Oral Maxillofac Surg. 2016;74:1207-14 pubmed publisher..001). The superiorly based pharyngeal flap is highly successful in correcting VPI after Le Fort I maxillary advancement in patients with repaired CL/P. ..
- Aziz S, Ziccardi V, Chuang S. Survey of residents who have participated in humanitarian medical missions. J Oral Maxillofac Surg. 2012;70:e147-57 pubmed publisher..Given these important educational aspects, participation in a humanitarian mission should be considered a required part of residency training. ..
- Khosla R, Mabry K, Castiglione C. Clinical outcomes of the Furlow Z-plasty for primary cleft palate repair. Cleft Palate Craniofac J. 2008;45:501-10 pubmed publisher..The Furlow Z-plasty yielded excellent speech results in our patient population with minimal and acceptable rates of fistula formation, velopharyngeal insufficiency, and the need for additional corrective surgery. ..
- Hardin Jones M, Jones D. Speech production of preschoolers with cleft palate. Cleft Palate Craniofac J. 2005;42:7-13 pubmed..An optimal treatment regimen for these children is one that includes primary palatal surgery no later than 13 months of age. ..
- Santelmann L, Sussman J, Chapman K. Perception of middorsum palatal stops from the speech of three children with repaired cleft palate. Cleft Palate Craniofac J. 1999;36:233-42 pubmed..The results suggest that considerable training listening to middorsum palatal stops is necessary for listeners to be able to reliably identify them. ..
- Shaffer L, Theisen A, Bejjani B, Ballif B, Aylsworth A, Lim C, et al. The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome. Genet Med. 2007;9:607-16 pubmed..Targeting developmental pathways in a functional approach to diagnostics may lead to the identification of additional microdeletion syndromes. ..
- Knott P, Zins J, Banbury J, Djohan R, Yetman R, Papay F. A comparison of dermabond tissue adhesive and sutures in the primary repair of the congenital cleft lip. Ann Plast Surg. 2007;58:121-5 pubmed..7 (SD 1.7) (P = 0.92). Dermabond tissue adhesive offers equivalent mature wound cosmesis as traditional suture closure in the repair of the congenital cleft lip +/- palate. ..
- Singh G, Levy Bercowski D, Yanez M, Santiago P. Three-dimensional facial morphology following surgical repair of unilateral cleft lip and palate in patients after nasoalveolar molding. Orthod Craniofac Res. 2007;10:161-6 pubmed..To evaluate three-dimensional (3D) facial morphology in patients surgically corrected for unilateral cleft lip and palate (UCLP) following pre-surgical nasoalveolar molding (NAM)...
- Lidral A, Romitti P, Basart A, Doetschman T, Leysens N, Daack Hirsch S, et al. Association of MSX1 and TGFB3 with nonsyndromic clefting in humans. Am J Hum Genet. 1998;63:557-68 pubmed..These results form the basis for future research, including (a) mutation searches in the MSX1 and TGFB3 genes in Caucasian CL/P patients and (b) extension of the search for MSX1 mutations in CPO patients to the noncoding regions. ..
- McCarthy N, Wetherill L, Lovely C, Swartz M, Foroud T, Eberhart J. Pdgfra protects against ethanol-induced craniofacial defects in a zebrafish model of FASD. Development. 2013;140:3254-65 pubmed publisher..This protective role is mediated by the PI3K/mTOR pathway. Collectively, our results suggest a model where combined genetic and environmental inhibition of PI3K/mTOR signaling leads to variability within FASD. ..
- Williams C, Mardon R, Grove D, Wharton P, Hauser K, Frias J. Treatment of oralfacial clefts by state-affiliated craniofacial centers and cleft palate clinics. Birth Defects Res A Clin Mol Teratol. 2003;67:643-6 pubmed..Factors influencing access to services and quality of care, though not addressed by this study, could be prospectively incorporated into such a project. ..
- Jin J, Ding J. Analysis of Meox-2 mutant mice reveals a novel postfusion-based cleft palate. Dev Dyn. 2006;235:539-46 pubmed..This article is the first report of a gene required to maintain adherence of the palatal shelves after fusion. ..
- Abidi F, Miano M, Murray J, Schwartz C. A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate. Clin Genet. 2007;72:19-22 pubmed..Our finding further supports the hypothesis that the PHF8 protein may play an important role in cognitive function and midline formation...
- Chapman K, Graham K, Gooch J, Visconti C. Conversational skills of preschool and school-age children with cleft lip and palate. Cleft Palate Craniofac J. 1998;35:503-16 pubmed..Therefore, craniofacial team evaluations should include examination of conversational competency, particularly for children who are demonstrating difficulty with other aspects of speech, language, or social development. ..
- Caspary T, Cleary M, Perlman E, Zhang P, Elledge S, Tilghman S. Oppositely imprinted genes p57(Kip2) and igf2 interact in a mouse model for Beckwith-Wiedemann syndrome. Genes Dev. 1999;13:3115-24 pubmed..In two affected tissues, the two imprinted genes appear to act in an antagonistic manner, a finding that may help explain how BWS can arise from mutations in either gene. ..
- Bacha F, Hoo J. New syndrome characterized by sparse hair, prominent nose, small mouth, micrognathia, cleft palate, crumpled upper helices, digit anomaly, and mild developmental delay. Am J Med Genet. 2001;101:70-3 pubmed..Their clinical appearance suggests a premature aging phenotype, but is not really compatible with the hitherto known syndromes of that group. The mode of inheritance is likely autosomal recessive...
- Neilson D, Brunger J, Heeger S, Bamshad M, Robin N. Mixed clefting type in Rapp-Hodgkin syndrome. Am J Med Genet. 2002;108:281-4 pubmed..Therefore, while VDW and PPS have little clinical overlap with the EDCS, the common finding of MCT may indicate closer relationships at the developmental or genetic level. ..
- Rutledge K, Barger C, Grant J, Robin N. IRF6 mutations in mixed isolated familial clefting. Am J Med Genet A. 2010;152A:3107-9 pubmed publisher..Here we report on two families that demonstrate familial mixed clefting in which mutations in IRF6 were identified, suggesting that IRF6 testing does have a role in familial, non-syndromic OFC. ..
- Lipinski R, Song C, Sulik K, Everson J, Gipp J, Yan D, et al. Cleft lip and palate results from Hedgehog signaling antagonism in the mouse: Phenotypic characterization and clinical implications. Birth Defects Res A Clin Mol Teratol. 2010;88:232-40 pubmed publisher..This work also illustrates the utility of fetal MRI-based analyses and establishes a novel mouse model for teratogen-induced CLP. ..
- Greene R, Nugent P, Mukhopadhyay P, Warner D, Pisano M. Intracellular dynamics of Smad-mediated TGFbeta signaling. J Cell Physiol. 2003;197:261-71 pubmed..Collectively, these data point to the presence of a functional Smad-mediated TGFbeta signaling system in cells of the developing murine palate. ..
- Lan Y, Wang Q, Ovitt C, Jiang R. A unique mouse strain expressing Cre recombinase for tissue-specific analysis of gene function in palate and kidney development. Genesis. 2007;45:618-24 pubmed..These data indicate that the Osr2(IresCre) knockin mice provide a unique tool for tissue-specific studies of the molecular mechanisms regulating palate and kidney development. ..
- Thomae T, Glover E, Bradfield C. A maternal Ahr null genotype sensitizes embryos to chemical teratogenesis. J Biol Chem. 2004;279:30189-94 pubmed..In this regard, the Ahr(-/-) mouse may provide a system that allows pharmacological agents and toxicants to be more easily studied in a model where first pass clearance is a significant obstacle. ..
- Vallino L, Zuker R, Napoli J. A study of speech, language, hearing, and dentition in children with cleft lip only. Cleft Palate Craniofac J. 2008;45:485-94 pubmed publisher..To examine the prevalence of speech, language, hearing, and dental problems in children with an initial diagnosis of isolated cleft lip only (CL), for which evidence-based practice can be developed...
- Jin J, Li Q, Higashi Y, Darling D, Ding J. Analysis of Zfhx1a mutant mice reveals palatal shelf contact-independent medial edge epithelial differentiation during palate fusion. Cell Tissue Res. 2008;333:29-38 pubmed publisher..5 in a contact-independent manner, suggesting that differentiation of the medial edge epithelium was largely programmed through an intrinsic mechanism within the palate shelf. ..
- McMillin M, Beck A, Chong J, Shively K, Buckingham K, Gildersleeve H, et al. Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. Am J Hum Genet. 2014;94:734-44 pubmed publisher..0001). Collectively, although GS, DA5, and MWS have traditionally been considered separate disorders, our findings indicate that they are etiologically related and perhaps represent variable expressivity of the same condition. ..
- Yan Y, Frisen J, Lee M, Massague J, Barbacid M. Ablation of the CDK inhibitor p57Kip2 results in increased apoptosis and delayed differentiation during mouse development. Genes Dev. 1997;11:973-83 pubmed..These findings indicate that p57(Kip2) has an important role during mouse development that cannot be compensated by other Cdk inhibitors. ..
- Mukherjee K, Ishii K, Pillalamarri V, Kammin T, Atkin J, Hickey S, et al. Actin capping protein CAPZB regulates cell morphology, differentiation, and neural crest migration in craniofacial morphogenesisâ€ . Hum Mol Genet. 2016;25:1255-70 pubmed publisher..In addition, capzb over-expression results in embryonic lethality. Therefore, proper capzb dosage is important during embryogenesis, and regulates both cell behavior and tissue morphogenesis. ..
- Oh W, Westmoreland J, Summers R, Condie B. Cleft palate is caused by CNS dysfunction in Gad1 and Viaat knockout mice. PLoS ONE. 2010;5:e9758 pubmed publisher..We suggest that the alterations in GABA signaling lead to non-neural defects such as cleft palate as a secondary effect due to alterations in or elimination of fetal movements. ..
- Gu S, Wei N, Yu X, Jiang Y, Fei J, Chen Y. Mice with an anterior cleft of the palate survive neonatal lethality. Dev Dyn. 2008;237:1509-16 pubmed publisher..We conclude that the secondary palatal shelves are capable of fusion with each other, but fail to fuse with the primary palate in a developmentally delayed manner. Mice carrying an anterior cleft can survive neonatal lethality. ..
- Winter K, Baccaglini L, Tomar S. A review of malocclusion among individuals with mental and physical disabilities. Spec Care Dentist. 2008;28:19-26 pubmed publisher..Only a deep bite was more frequent in controls compared to the individuals with disabilities. ..
- Scherer N, D Antonio L, McGahey H. Early intervention for speech impairment in children with cleft palate. Cleft Palate Craniofac J. 2008;45:18-31 pubmed publisher..The results of the study have implications for service delivery models where the services of speech-language pathologists are limited. ..
- Lan Y, Ryan R, Zhang Z, Bullard S, Bush J, Maltby K, et al. Expression of Wnt9b and activation of canonical Wnt signaling during midfacial morphogenesis in mice. Dev Dyn. 2006;235:1448-54 pubmed..These data, together with the CLP lip phenotype in WNT3-/- humans and Wnt9b-/- mutant mice, indicate that Wnt3 and Wnt9b signal through the canonical Wnt signaling pathway to regulate midfacial development and lip fusion. ..
- Slayton R, Williams L, Murray J, Wheeler J, Lidral A, Nishimura C. Genetic association studies of cleft lip and/or palate with hypodontia outside the cleft region. Cleft Palate Craniofac J. 2003;40:274-9 pubmed..Cleft lip and/or palate with hypodontia outside the cleft region was positively associated with both TGFB3 and MSX1, compared with noncleft controls. ..
- Redford Badwal D, Mabry K, Frassinelli J. Impact of cleft lip and/or palate on nutritional health and oral-motor development. Dent Clin North Am. 2003;47:305-17 pubmed..Education provided to parents regarding causes of and methods to reduce dental disease could help decrease its incidence and help these children require less invasive and difficult rehabilitation therapy...
- Bush J, Lan Y, Maltby K, Jiang R. Isolation and developmental expression analysis of Tbx22, the mouse homolog of the human X-linked cleft palate gene. Dev Dyn. 2002;225:322-6 pubmed..Together with the mutant phenotypes in human patients, our data indicate a primary role for Tbx22 in both palate and tongue development. ..