craniofacial abnormalities

Summary

Summary: Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.

Top Publications

  1. Zhang Z, Wlodarczyk B, Niederreither K, Venugopalan S, Florez S, Finnell R, et al. Fuz regulates craniofacial development through tissue specific responses to signaling factors. PLoS ONE. 2011;6:e24608 pubmed publisher
    ..These data demonstrate a new model for coordination of Hh and Wnt signaling and reveal a Fuz-dependent negative feedback loop controlling Wnt/?-catenin signaling...
  2. Hong M, Krauss R. Cdon mutation and fetal ethanol exposure synergize to produce midline signaling defects and holoprosencephaly spectrum disorders in mice. PLoS Genet. 2012;8:e1002999 pubmed publisher
    ..Furthermore, gene-environment interactions are likely to be important in the multifactorial etiology of HPE...
  3. Ullrich N, Silvera V, Campbell S, Gordon L. Craniofacial abnormalities in Hutchinson-Gilford progeria syndrome. AJNR Am J Neuroradiol. 2012;33:1512-8 pubmed publisher
    ..Our goal was to expand the scope of structural bone and soft-tissue craniofacial abnormalities in HGPS through CT or MR imaging...
  4. Bose T, Lee K, Lu S, Xu B, Harris B, Slaughter B, et al. Cohesin proteins promote ribosomal RNA production and protein translation in yeast and human cells. PLoS Genet. 2012;8:e1002749 pubmed publisher
    ..Reduced translational capacity could contribute to the human cohesinopathies...
  5. Huang T, Shao Q, Macdonald A, Xin L, Lorentz R, Bai D, et al. Autosomal recessive GJA1 (Cx43) gene mutations cause oculodentodigital dysplasia by distinct mechanisms. J Cell Sci. 2013;126:2857-66 pubmed publisher
  6. Gerton J. Translational mechanisms at work in the cohesinopathies. Nucleus. 2012;3:520-5 pubmed publisher
    ..By considering this possibility we can more fully evaluate causes and treatments for the cohesinopathies...
  7. Yuan Q, Chiquet B, Devault L, Warman M, Nakamura Y, Swindell E, et al. Craniofacial abnormalities result from knock down of nonsyndromic clefting gene, crispld2, in zebrafish. Genesis. 2012;50:871-81 pubmed publisher
    ..These data provide support for a role of CRISPLD2 in NSCLP...
  8. Shao Q, Liu Q, Lorentz R, Gong X, Bai D, Shaw G, et al. Structure and functional studies of N-terminal Cx43 mutants linked to oculodentodigital dysplasia. Mol Biol Cell. 2012;23:3312-21 pubmed publisher
    ..Collectively, these studies suggest that the nature of the mutation conveys loss of Cx43 function by distinctly different mechanisms that are rooted in the structure of the N-terminal region...
  9. Femitha P, Joy R, Gane B, Adhisivam B, Bhat B. Frank-Ter Haar syndrome in a newborn. Indian J Pediatr. 2012;79:1091-3 pubmed publisher
    ..It is usually transmitted as autosomal recessive disorder. Only a few cases have been reported in the literature and none from India. The authors report a case with other unusual features and a short review of the condition...

More Information

Publications73

  1. Deardorff M, Wilde J, Albrecht M, Dickinson E, Tennstedt S, Braunholz D, et al. RAD21 mutations cause a human cohesinopathy. Am J Hum Genet. 2012;90:1014-27 pubmed publisher
    ..These results underscore the essential role of RAD21 in eukaryotes and emphasize the need for further understanding of the role of cohesin in human development...
  2. Amador C, Mathews A, Del Carmen Montoya M, Laughridge M, Everman D, Holden K. Expanding the neurologic phenotype of oculodentodigital dysplasia in a 4-generation Hispanic family. J Child Neurol. 2008;23:901-5 pubmed publisher
    ..These findings expand the neurologic phenotype and prognosis and underscore the importance of counseling families with oculodentodigital dysplasia about the possibility of neurologic involvement...
  3. Bush J, Soriano P. Ephrin-B1 forward signaling regulates craniofacial morphogenesis by controlling cell proliferation across Eph-ephrin boundaries. Genes Dev. 2010;24:2068-80 pubmed publisher
  4. Mönnich M, Kuriger Z, Print C, Horsfield J. A zebrafish model of Roberts syndrome reveals that Esco2 depletion interferes with development by disrupting the cell cycle. PLoS ONE. 2011;6:e20051 pubmed publisher
    ..Esco2 depleted zebrafish embryos exhibit features that resemble RBS, including mitotic defects, craniofacial abnormalities and limb truncations...
  5. Fogelgren B, Kuroyama M, McBratney Owen B, Spence A, Malahn L, Anawati M, et al. Misexpression of Six2 is associated with heritable frontonasal dysplasia and renal hypoplasia in 3H1 Br mice. Dev Dyn. 2008;237:1767-79 pubmed publisher
    ..These data suggest a mutation in a novel cis-acting regulatory region inhibits Six2 expression and is associated with frontonasal dysplasia and renal hypoplasia...
  6. Sewell M, Akram H, Wadley J. Foramen magnum decompression and expansile duroplasty for acquired Chiari type I malformation in craniometaphyseal dysplasia. Br J Neurosurg. 2008;22:83-5 pubmed publisher
    ..We outline the clinical and radiological features of this condition and describe the surgical management...
  7. Kolpakova Hart E, Jinnin M, Hou B, Fukai N, Olsen B. Kinesin-2 controls development and patterning of the vertebrate skeleton by Hedgehog- and Gli3-dependent mechanisms. Dev Biol. 2007;309:273-84 pubmed
    ..However, the motor appears to be required for the efficient cleavage of the full-length Gli3 transcription factor into a repressor form...
  8. Dobrowolski R, Sommershof A, Willecke K. Some oculodentodigital dysplasia-associated Cx43 mutations cause increased hemichannel activity in addition to deficient gap junction channels. J Membr Biol. 2007;219:9-17 pubmed
    ..We hypothesize that increased hemichannel activity may aggravate the phenotypic abnormalities in ODDD patients who are deficient in Cx43 gap junction channels...
  9. Tobin J, Di Franco M, Eichers E, May Simera H, Garcia M, Yan J, et al. Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome. Proc Natl Acad Sci U S A. 2008;105:6714-9 pubmed publisher
    ..Moreover, this is a previously undescribed method of using characterization of facial dysmorphology as a basis for investigating the pathomechanism of CF development in dysmorphic syndromes...
  10. Twigg S, Versnel S, Nurnberg G, Lees M, Bhat M, Hammond P, et al. Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene. Am J Hum Genet. 2009;84:698-705 pubmed publisher
    ..We conclude that ALX3 is essential for normal facial development in humans and that deficiency causes a clinically recognizable phenotype, which we term frontorhiny...
  11. Schulz S, Gerloff C, Ledig S, Langer D, Volleth M, Shirneshan K, et al. Prenatal diagnosis of Roberts syndrome and detection of an ESCO2 frameshift mutation in a Pakistani family. Prenat Diagn. 2008;28:42-5 pubmed publisher
    ..We report two siblings with Roberts syndrome (RBS), and an attempt to delineate the underlying molecular mechanism leading to familial recurrence...
  12. Yang B, Tian C, Zhang Z, Han F, Azem R, Yu H, et al. Sh3pxd2b mice are a model for craniofacial dysmorphology and otitis media. PLoS ONE. 2011;6:e22622 pubmed publisher
    ..The mouse model with a mutation in the Sh3pxd2b gene (Sh3pxd2b(nee)) mirrors craniofacial dysmorphology and otitis media in humans...
  13. Kawauchi S, Calof A, Santos R, Lopez Burks M, Young C, Hoang M, et al. Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome. PLoS Genet. 2009;5:e1000650 pubmed publisher
    ..In addition, evidence is presented that reduced expression of genes involved in adipogenic differentiation may underlie the low amounts of body fat observed both in Nipbl+/- mice and in individuals with CdLS...
  14. Flanagan Steet H, Sias C, Steet R. Altered chondrocyte differentiation and extracellular matrix homeostasis in a zebrafish model for mucolipidosis II. Am J Pathol. 2009;175:2063-75 pubmed publisher
    ..These findings highlight the potential of the zebrafish system in studying lysosomal disease pathogenesis...
  15. Mattson S, Foroud T, Sowell E, Jones K, Coles C, Fagerlund A, et al. Collaborative initiative on fetal alcohol spectrum disorders: methodology of clinical projects. Alcohol. 2010;44:635-41 pubmed publisher
    ..This article describes the methodology being used by the clinical projects that pertain to assessment of children and adolescents. Domains being addressed are dysmorphology, neurobehavior, 3-D facial imaging, and brain imaging...
  16. Juergens P, Ratia J, Beinemann J, Krol Z, Schicho K, Kunz C, et al. Enabling an unimpeded surgical approach to the skull base in patients with cranial hyperostosis, exemplarily demonstrated for craniometaphyseal dysplasia. J Neurosurg. 2011;115:528-35 pubmed publisher
    ..Skull bone more than 50 mm thick in some regions was reduced to physiological thickness. The patient was thus in a stage that neurosurgical interventions could be performed with a regular risk within a reasonable time of treatment...
  17. Arts H, Bongers E, Mans D, van Beersum S, Oud M, Bolat E, et al. C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. J Med Genet. 2011;48:390-5 pubmed publisher
    ..Sensenbrenner syndrome is a heterogeneous ciliopathy that is characterised by skeletal and ectodermal anomalies, accompanied by chronic renal failure, heart defects, liver fibrosis and other features...
  18. Thomas P, Kim J, Nunez S, Glogauer M, Kaartinen V. Neural crest cell-specific deletion of Rac1 results in defective cell-matrix interactions and severe craniofacial and cardiovascular malformations. Dev Biol. 2010;340:613-25 pubmed publisher
  19. Cordero D, BRUGMANN S, Chu Y, Bajpai R, Jame M, Helms J. Cranial neural crest cells on the move: their roles in craniofacial development. Am J Med Genet A. 2011;155A:270-9 pubmed publisher
    ..Furthermore, we present recent findings on NCC diseases called neurocristopathies and, in doing so, provide clinicians with new tools for understanding a growing number of craniofacial genetic disorders...
  20. Chang E, Shiao G. Craniofacial abnormalities in Chinese patients with obstructive and positional sleep apnea. Sleep Med. 2008;9:403-10 pubmed
    ..We wish to determine the variable of craniofacial dimensions in the upper airway that contribute to OSA, and to investigate the significance of craniofacial measurements in positional and non-positional sleep apnea patients...
  21. Brugmann S, Cordero D, Helms J. Craniofacial ciliopathies: A new classification for craniofacial disorders. Am J Med Genet A. 2010;152A:2995-3006 pubmed publisher
    ..Finally, we propose that some non-classified disorders may now be classified as craniofacial ciliopathies...
  22. Greiner M, Greiner A, Hirschfelder U. Variance of landmarks in digital evaluations: comparison between CT-based and conventional digital lateral cephalometric radiographs. J Orofac Orthop. 2007;68:290-8 pubmed
    ..The aim of this study was to examine whether bony, dental and soft tissue landmarks could be placed in CT-based lateral cephalograms with the same precision as in conventional digital lateral cephalograms...
  23. Sirmaci A, Walsh T, Akay H, Spiliopoulos M, Sakalar Y, Hasanefendioğlu Bayrak A, et al. MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes. Am J Hum Genet. 2010;87:679-86 pubmed publisher
    ..These results implicate mutations of MASP1 as the cause of a human malformation syndrome and demonstrate the involvement of MASP1 in facial, umbilical, and ear development during the embryonic period...
  24. Leal G, Baptista E. Three additional cases of the Michels syndrome. Am J Med Genet A. 2007;143A:2747-50 pubmed
  25. Kalcheva N, Qu J, Sandeep N, Garcia L, Zhang J, Wang Z, et al. Gap junction remodeling and cardiac arrhythmogenesis in a murine model of oculodentodigital dysplasia. Proc Natl Acad Sci U S A. 2007;104:20512-6 pubmed
    ..In summary, our data demonstrate that the I130T mutation interferes with Cx43 posttranslational processing, resulting in diminished cell-cell coupling, slowing of impulse propagation, and a proarrhythmic substrate...
  26. McKeown S, Bronner Fraser M. Saving face: rescuing a craniofacial birth defect. Nat Med. 2008;14:115-6 pubmed publisher
  27. Denayer E, de Ravel T, Legius E. Clinical and molecular aspects of RAS related disorders. J Med Genet. 2008;45:695-703 pubmed publisher
    ..Other constitutional disorders caused by mutated RAS pathway genes point to involvement of the RAS-MAPK pathway in immune modulation and vascular development...
  28. Dundar M, Saatci C, Tasdemir S, Akcakus M, Caglayan A, Ozkul Y. Frank-ter Haar syndrome with unusual clinical features. Eur J Med Genet. 2009;52:247-9 pubmed publisher
    ..Hypopigmented areas in hair, bilateral adducted thumb, bilateral contractures in elbows and pelvic limb, atrial septal defect have not been described previously in the literature. Our patient also had double-outlet right ventricle...
  29. Furuichi T, Dai J, Cho T, Sakazume S, Ikema M, Matsui Y, et al. CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant. J Med Genet. 2011;48:32-7 pubmed publisher
    ..Mutations in the gene that encodes for CANT1 (calcium-activated nucleotidase 1) have been identified in a subset of patients with DD type 1...
  30. Vallejo Illarramendi A, Zang K, Reichardt L. Focal adhesion kinase is required for neural crest cell morphogenesis during mouse cardiovascular development. J Clin Invest. 2009;119:2218-30 pubmed publisher
    ..Our results indicate that FAK plays an essential role in cardiac outflow tract development by promoting the activation of molecules such as Crkl and Erk1/2...
  31. Mao M, Thedens D, Chang B, Harris B, Zheng Q, Johnson K, et al. The podosomal-adaptor protein SH3PXD2B is essential for normal postnatal development. Mamm Genome. 2009;20:462-75 pubmed publisher
    ..These results identify SH3PXD2B as a podosomal-adaptor protein required for postnatal growth and development, particularly within physiologic contexts involving extracellular matrix regulation...
  32. Brugmann S, Allen N, James A, Mekonnen Z, Madan E, Helms J. A primary cilia-dependent etiology for midline facial disorders. Hum Mol Genet. 2010;19:1577-92 pubmed publisher
    ..These data also raise the possibility that genes encoding ciliary proteins are candidates for human conditions of hypertelorism and FNDs...
  33. Morritt D, Yeh F, Wall S, Richards P, Jayamohan J, Johnson D. Management of isolated sagittal synostosis in the absence of scaphocephaly: a series of eight cases. Plast Reconstr Surg. 2010;126:572-80 pubmed publisher
    ..The Oxford Craniofacial Unit has successfully managed eight cases of isolated sagittal synostosis without scaphocephaly. To the authors' knowledge, there have been no reports of this in the literature...
  34. Moro E, Tomanin R, Friso A, Modena N, Tiso N, Scarpa M, et al. A novel functional role of iduronate-2-sulfatase in zebrafish early development. Matrix Biol. 2010;29:43-50 pubmed publisher
    ..Our results provide an insight into the early biological impairments underlying the Hunter syndrome and suggest the use of zebrafish as a novel tool to better understand lysosomal storage disorder pathogenesis...
  35. Fromme J, Ravazzola M, Hamamoto S, Al Balwi M, Eyaid W, Boyadjiev S, et al. The genetic basis of a craniofacial disease provides insight into COPII coat assembly. Dev Cell. 2007;13:623-34 pubmed
    ..Our results indicate that the Sar1-Sec23-Sec24 prebudding complex is sufficient to form cargo-containing tubules in vivo, whereas the Sec13-Sec31 complex is required for membrane fission...
  36. Denayer E, Legius E. What's new in the neuro-cardio-facial-cutaneous syndromes?. Eur J Pediatr. 2007;166:1091-8 pubmed
    ..These findings point to important roles for this evolutionary conserved pathway in oncogenesis, development, cognition and growth...
  37. Zhang H, Somerman M, Berg J, Cunningham M, Williams B. Dental anomalies in a child with craniometaphysial dysplasia. Pediatr Dent. 2007;29:415-9 pubmed
    ..Radiographic evidence of excess mineralization was noted on the primary maxillary second molars, limited to the mesial region of the crowns. The genetic and molecular effects of Ank/Ankh mutations are also discussed...
  38. Rooryck C, Diaz Font A, Osborn D, Chabchoub E, Hernandez Hernandez V, Shamseldin H, et al. Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. Nat Genet. 2011;43:197-203 pubmed publisher
    ..Zebrafish morphants for either gene develop pigmentary defects and severe craniofacial abnormalities. Finally, we show that CL-K1 serves as a guidance cue for neural crest cell migration...
  39. Lee Y, Saint Jeannet J. Sox9 function in craniofacial development and disease. Genesis. 2011;49:200-8 pubmed publisher
    ..We also discuss the mutations in and around SOX9 responsible for craniofacial defects in CD patients...
  40. Vega H, Trainer A, Gordillo M, Crosier M, Kayserili H, Skovby F, et al. Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome. J Med Genet. 2010;47:30-7 pubmed publisher
    ..Genotype-phenotype analysis has been hampered by limited numbers of patients with clinical information available...
  41. Kauvar E, Solomon B, Curry C, van Essen A, Janssen N, Dutra A, et al. Holoprosencephaly and agnathia spectrum: Presentation of two new patients and review of the literature. Am J Med Genet C Semin Med Genet. 2010;154C:158-69 pubmed publisher
    ..This condition results in a constellation of structural cerebral and craniofacial abnormalities. Here we present two new patients and review 30 patients from the literature with HPE and variants of ..
  42. Kraoua L, Capri Y, Perrin L, Benmansour A, Verloes A. Pseudoaminopterin syndrome. Am J Med Genet A. 2012;158A:2233-8 pubmed publisher
  43. Vogt J, Mussotter T, Bengesser K, Claes K, Högel J, Chuzhanova N, et al. Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder. Hum Mutat. 2012;33:1599-609 pubmed publisher
    ..Our findings indicate that a combination of an open chromatin conformation and short non-B DNA-forming repeats may predispose to recurrent mitotic NAHR events between SUZ12 and its pseudogene. ..
  44. Hendizadeh L, Zaghi S, Guzman C, Haydel D, Koempel J. A rudimentary tragus in the nasopharynx: case report, literature review, and discussion of embryologic development. Int J Pediatr Otorhinolaryngol. 2013;77:1378-80 pubmed publisher
    ..Based on our review of the medical literature, this is the first report of a nasopharyngeal mass with a pathologic diagnosis of a rudimentary tragus. ..
  45. Weston J, Bromley R, Jackson C, Adab N, Clayton Smith J, Greenhalgh J, et al. Monotherapy treatment of epilepsy in pregnancy: congenital malformation outcomes in the child. Cochrane Database Syst Rev. 2016;11:CD010224 pubmed
    ..Physicians should discuss both the risks and treatment efficacy with the patient prior to commencing treatment. ..
  46. Cohen A, Yap D, Lewis M, Chijiwa C, Ramos Arroyo M, Tkachenko N, et al. Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro. Hum Mutat. 2016;37:301-7 pubmed publisher
    ..553G>C (p.Asp185His) polymorphism in EZH2. ..
  47. Desseauve D, Legendre M, Dugue Marechaud M, Vequeau Goua V, Pierre F. [Prenatal and clinicopathological study of 6 cases of Pallister-Killian syndrome and review]. Gynecol Obstet Fertil. 2016;44:200-6 pubmed publisher
    ..We found 1 case of left diaphragmatic hernia. Our results are in agreement with the malformation spectrum described in the literature. Some malformation associations could evoke a SPK without classical diaphragmatic hernia. ..
  48. Choo O, Kim T, Jang J, Choung Y. The clinical efficacy of early intervention for infected preauricular sinus. Int J Pediatr Otorhinolaryngol. 2017;95:45-50 pubmed publisher
    ..The early intervention of PASs does not seem to increase postoperative complication or recurrence rates. A double parallel skin incision is a simple but adequate technique to treat infected PASs. ..
  49. Francis C, Wong R, Cohen S. Endoscopic delivery of calcium phosphate cement for secondary craniofacial reconstruction. J Craniofac Surg. 2012;23:2057-60 pubmed publisher
  50. Ocak Z, Surucu R. Molecular cytogenetic characterization of a case of primary amenorrhea with intrachromosomal triplication of the X chromosome q arm. Genet Couns. 2012;23:297-304 pubmed
    ..Further the clinical usability of SKY analysis as a molecular cytogenetic tool in searching for genomic instability arising from cytogenetic rearrangements is highlighted. ..
  51. Marañés Gálvez C, Martínez Plaza A, Fernandez Valades R, Liceras Liceras E, Martin Cano F, Cortés Sánchez R, et al. [Mandibular distraction osteogenesis in patients with craniofacial malformation]. Cir Pediatr. 2011;24:102-8 pubmed
    ..During this time, the obstructive respiratory problems and also swallowing problems have disappeared. The esthetic results were excellent and the complications, for the moment, minimum. ..
  52. Arpin S, Afenjar A, Dubern B, Toutain A, Cabrol S, Heron D. Floating-Harbor Syndrome: report on a case in a mother and daughter, further evidence of autosomal dominant inheritance. Clin Dysmorphol. 2012;21:11-4 pubmed publisher
    ..Very few familial cases have been reported. We report on the fourth case in a mother and daughter, suggesting autosomal dominant inheritance. ..
  53. Khonsari R, Ohazama A, Raouf R, Kawasaki M, Kawasaki K, Porntaveetus T, et al. Multiple postnatal craniofacial anomalies are characterized by conditional loss of polycystic kidney disease 2 (Pkd2). Hum Mol Genet. 2013;22:1873-85 pubmed publisher
    ..Mutations in many cilia proteins result in craniofacial abnormalities. Orofacial tissues constantly receive mechanical forces and are known to develop and grow through ..
  54. Nieman B, Blank M, Roman B, Henkelman R, Millen K. If the skull fits: magnetic resonance imaging and microcomputed tomography for combined analysis of brain and skull phenotypes in the mouse. Physiol Genomics. 2012;44:992-1002 pubmed publisher
  55. Attanasio C, Nord A, Zhu Y, Blow M, Li Z, Liberton D, et al. Fine tuning of craniofacial morphology by distant-acting enhancers. Science. 2013;342:1241006 pubmed publisher
    ..These results demonstrate that enhancers are involved in craniofacial development and suggest that enhancer sequence variation contributes to the diversity of human facial morphology. ..
  56. Chen I, Fukuda K, Fusaki N, Iida A, Hasegawa M, Lichtler A, et al. Induced pluripotent stem cell reprogramming by integration-free Sendai virus vectors from peripheral blood of patients with craniometaphyseal dysplasia. Cell Reprogram. 2013;15:503-13 pubmed publisher
  57. Lyford Pike S, Hoover Fong J, Tunkel D. Otolaryngologic manifestations of skeletal dysplasias in children. Otolaryngol Clin North Am. 2012;45:579-98, vii pubmed publisher
    ..Hearing loss, middle ear disease, and respiratory difficulties are seen in these children. Otolaryngologists must be knowledgeable about these disorders to diagnose, treat, and appropriately refer children with skeletal dysplasias...
  58. Zheng Z, Yao R, Geng J, Jin X, Shen Y, Ying D, et al. A unique combination of 17pter trisomy and 21qter monosomy in a boy with developmental delay, severe intellectual disability, growth retardation and dysmorphisms. Gene. 2013;516:301-6 pubmed publisher
    ..In this study, we performed a molecular diagnostic testing with a whole genome microarray on a 3-year-old boy with developmental delay, mental retardation and multiple malformations...
  59. Billington C, Schmidt B, Zhang L, Hodges J, Georgieff M, Schotta G, et al. Maternal diet supplementation with methyl donors and increased parity affect the incidence of craniofacial defects in the offspring of twisted gastrulation mutant mice. J Nutr. 2013;143:332-9 pubmed publisher
    ..1 to 45.3% in MDS, P = 0.045). In conclusion, methyl donor supplementation shows protective effects against jaw defects, but not midline facial defects, and increased parity can be a risk factor for some craniofacial defects...
  60. Harbuz R, Bilan F, Couet D, Charraud V, Kitzis A, Gilbert Dussardier B. Osteogenesis imperfecta, tricho-dento-osseous syndrome and intellectual disability: a familial case with 17q21.33-q22 (COL1A1 and DLX3) deletion and 7q32.3-q33 duplication resulting from a reciprocal interchromosomal insertion. Am J Med Genet A. 2013;161A:2504-11 pubmed publisher
    ..The CACNA1G gene on the deleted segment of chromosome 17 may be a good candidate gene to explain the intellectual impairment. © 2013 Wiley Periodicals, Inc. ..
  61. Tan H, Kheirandish Gozal L, Abel F, Gozal D. Craniofacial syndromes and sleep-related breathing disorders. Sleep Med Rev. 2016;27:74-88 pubmed publisher
    ..Clinicians should have a low threshold for referral for evaluation of sleep-disordered-breathing in these patients. ..
  62. Moreddu E, Le Treut Gay C, Triglia J, Nicollas R. Congenital nasal pyriform aperture stenosis: Elaboration of a management algorithm from 25 years of experience. Int J Pediatr Otorhinolaryngol. 2016;83:7-11 pubmed publisher
    ..The algorithm we propose offers guidelines from diagnosis to treatment, but the management should be adapted based on clinical tolerance. ..
  63. Lee S, Chae H, Park I, Kim M, Kim Y, Shin J, et al. Genotype-phenotype correlation of a 5q22.3 deletion associated with craniofacial and limb defects. Gene. 2012;494:105-8 pubmed publisher
    ..Further cumulative data based on the molecular approach are needed to establish the genotype-phenotype correlation and to understand the role and influence of the genes in the interstitial 5q syndrome...
  64. Wu D, Wang G, Yang Y, Chen Y, Wan T. Severe bilateral Tessier 3 clefts in a Uighur girl: the significance and surgical repair. J Craniomaxillofac Surg. 2013;41:598-602 pubmed publisher
    ..This study focuses particularly on describing the surgical procedures and techniques. Further treatments required for the cleft-associated deformities during later growth and developmental stages are also discussed in detail. ..