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Quoted phrase not found in phrase index: "Mendelian syndromes with cleft lip/palate"
Page 1
Sacral protuberance with cleft lip and palate: Prenatal presentation of 3MC syndrome.
Lawson C, Blakemore KJ, Ryan R, Hooper JE, Tsimis M, Jelin A. Lawson C, et al. Am J Med Genet A. 2020 Jul;182(7):1812-1814. doi: 10.1002/ajmg.a.61624. Epub 2020 May 22. Am J Med Genet A. 2020. PMID: 32441374 Free PMC article.
At the time this case presented (2015), the only gene identified in Online Mendelian Inheritance in Man to be associated with 3MC syndrome was MASP1. We present, to the best of our knowledge, the first prenatal report of 3MC syndrome, secondary to a homozygou …
At the time this case presented (2015), the only gene identified in Online Mendelian Inheritance in Man to be associated with 3MC …
The genetics of isolated orofacial clefts: from genotypes to subphenotypes.
Jugessur A, Farlie PG, Kilpatrick N. Jugessur A, et al. Oral Dis. 2009 Oct;15(7):437-53. doi: 10.1111/j.1601-0825.2009.01577.x. Epub 2009 Jul 2. Oral Dis. 2009. PMID: 19583827 Review.
Perturbations impacting on the genesis or growth of these primordia may interfere with the proper morphogenesis of facial structures, resulting in clefting of the lip, the primary or secondary palate, or a combination of these sites. ...In this article, we review th …
Perturbations impacting on the genesis or growth of these primordia may interfere with the proper morphogenesis of facial structures, result …
Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes.
Basha M, Demeer B, Revencu N, Helaers R, Theys S, Bou Saba S, Boute O, Devauchelle B, Francois G, Bayet B, Vikkula M. Basha M, et al. J Med Genet. 2018 Jul;55(7):449-458. doi: 10.1136/jmedgenet-2017-105110. Epub 2018 Mar 2. J Med Genet. 2018. PMID: 29500247
BACKGROUND: Oral clefts, that is, clefts of the lip and/or cleft palate (CL/P), are the most common craniofacial birth defects with an approximate incidence of ~1/700. ...In general, patients with syCL/P follow Mendelian inheritance, while those with n …
BACKGROUND: Oral clefts, that is, clefts of the lip and/or cleft palate (CL/P), are the most common craniofacial birth …
Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders.
Leslie EJ, O'Sullivan J, Cunningham ML, Singh A, Goudy SL, Ababneh F, Alsubaie L, Ch'ng GS, van der Laar IM, Hoogeboom AJ, Dunnwald M, Kapoor S, Jiramongkolchai P, Standley J, Manak JR, Murray JC, Dixon MJ. Leslie EJ, et al. Am J Med Genet A. 2015 Mar;167A(3):545-52. doi: 10.1002/ajmg.a.36896. Am J Med Genet A. 2015. PMID: 25691407 Free PMC article.
The popliteal pterygia syndromes are a distinct subset of the hundreds of Mendelian orofacial clefting syndromes. Popliteal pterygia syndromes have considerable variability in severity and in the associated phenotypic features but are all characterized …
The popliteal pterygia syndromes are a distinct subset of the hundreds of Mendelian orofacial clefting syndromes. Popli …
Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans.
Cox TC, Lidral AC, McCoy JC, Liu H, Cox LL, Zhu Y, Anderson RD, Moreno Uribe LM, Anand D, Deng M, Richter CT, Nidey NL, Standley JM, Blue EE, Chong JX, Smith JD, Kirk EP, Venselaar H, Krahn KN, van Bokhoven H, Zhou H, Cornell RA, Glass IA, Bamshad MJ, Nickerson DA, Murray JC, Lachke SA, Thompson TB, Buckley MF, Roscioli T. Cox TC, et al. Hum Mutat. 2019 Oct;40(10):1813-1825. doi: 10.1002/humu.23793. Epub 2019 Jun 18. Hum Mutat. 2019. PMID: 31215115 Free PMC article.
Cleft lip with or without cleft palate (CL/P) is generally viewed as a complex trait with multiple genetic and environmental contributions. ...In the remaining 30%, CL/P is associated with multisystem phenotypes or clinically recognizable syndromes …
Cleft lip with or without cleft palate (CL/P) is generally viewed as a complex trait with multiple genetic and e …
The genetic basis of cleft lip and palate deformity.
Wong HB. Wong HB. Ann Acad Med Singap. 1988 Jul;17(3):305-10. Ann Acad Med Singap. 1988. PMID: 3218919
The embryology of the normal lip and palate and the abnormal development of these structures causing cleft lip (CL) and cleft palate (CP) are discussed. As the development of the lip and palate is not dependent on a single f …
The embryology of the normal lip and palate and the abnormal development of these structures causing cleft lip ( …
Prenatal diagnosis of a 1.6-Mb 4p16.3 interstitial microdeletion encompassing FGFRL1 and TACC3 associated with bilateral cleft lip and palate of Wolf-Hirschhorn syndrome facial dysmorphism and short long bones.
Chen CP, Chen CY, Chern SR, Wu PS, Chen SW, Lai ST, Chuang TY, Yang CW, Chen LF, Wang W. Chen CP, et al. Taiwan J Obstet Gynecol. 2017 Dec;56(6):821-826. doi: 10.1016/j.tjog.2017.10.021. Taiwan J Obstet Gynecol. 2017. PMID: 29241927 Free article.
OBJECTIVE: We present prenatal diagnosis of a 4p16.3 interstitial microdeletion associated with bilateral cleft lip and palate and short long bones on prenatal ultrasound, and we discuss the genotype-phenotype correlation. ...CONCLUSION: Haploinsufficiency of …
OBJECTIVE: We present prenatal diagnosis of a 4p16.3 interstitial microdeletion associated with bilateral cleft lip and pal …
Wolf-Hirschhorn syndrome: Prenatal diagnosis and molecular cytogenetic characterization of a de novo distal deletion of 4p (4p16.1 pter) in a fetus with facial cleft and preaxial polydactyly.
Chen CP, Wang LK, Chern SR, Wu PS, Chen SW, Wu FT, Chen LF, Chen YY, Wang W. Chen CP, et al. Taiwan J Obstet Gynecol. 2020 May;59(3):425-431. doi: 10.1016/j.tjog.2020.03.016. Taiwan J Obstet Gynecol. 2020. PMID: 32416892 Free article.
OBJECTIVE: We present prenatal diagnosis and molecular cytogenetic characterization of Wolf-Hirschhorn syndrome (WHS) in a fetus with facial cleft and preaxial polydactyly. ...The pregnancy was subsequently terminated, and a malformed fetus was delivered with typica …
OBJECTIVE: We present prenatal diagnosis and molecular cytogenetic characterization of Wolf-Hirschhorn syndrome (WHS) in a fetus with …
A heritable cause of cleft lip and palate--Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis.
Ferrero GB, Baldassarre G, Panza E, Valenzise M, Pippucci T, Mussa A, Pepe E, Seri M, Silengo MC. Ferrero GB, et al. Eur J Pediatr. 2010 Feb;169(2):223-8. doi: 10.1007/s00431-009-1011-3. Epub 2009 Jun 18. Eur J Pediatr. 2010. PMID: 19536562
BACKGROUND: Orofacial clefts are common congenital malformations usually characterized by a multifactorial etiology. These heterogeneous defects comprise cleft lip (CL), CL with cleft palate (CL/P), and cleft palate, sometimes observed in …
BACKGROUND: Orofacial clefts are common congenital malformations usually characterized by a multifactorial etiology. These heterogeneous def …
Orofacial clefting: update on the role of genetics.
Ghassibe M, Bayet B, Revencu N, Desmyter L, Verellen-Dumoulin C, Gillerot Y, Deggouj N, Vanwijck R, Vikkula M; CL/P Study Group. Ghassibe M, et al. B-ENT. 2006;2 Suppl 4:20-4. B-ENT. 2006. PMID: 17366841
INTRODUCTION: Cleft lip with or without cleft palate (CL/P) is one of the most common birth defects in the world. ...Van der Woude syndrome (VWS) is one of the best models for non-syndromic CLP. It is an autosomal dominant disorder charac …
INTRODUCTION: Cleft lip with or without cleft palate (CL/P) is one of the most common birth defects in the world …
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