نتایج جستجو برای: syndromic cleft

تعداد نتایج: 19425  

Journal: :American journal of human genetics 2016
Elisabeth Mangold Anne C Böhmer Nina Ishorst Ann-Kathrin Hoebel Pinar Gültepe Hannah Schuenke Johanna Klamt Andrea Hofmann Lina Gölz Ruth Raff Peter Tessmann Stefanie Nowak Heiko Reutter Alexander Hemprich Thomas Kreusch Franz-Josef Kramer Bert Braumann Rudolf Reich Gül Schmidt Andreas Jäger Rudolf Reiter Sibylle Brosch Janis Stavusis Miho Ishida Rimante Seselgyte Gudrun E Moore Markus M Nöthen Guntram Borck Khalid A Aldhorae Baiba Lace Philip Stanier Michael Knapp Kerstin U Ludwig

Nonsyndromic cleft lip with/without cleft palate (nsCL/P) and nonsyndromic cleft palate only (nsCPO) are the most frequent subphenotypes of orofacial clefts. A common syndromic form of orofacial clefting is Van der Woude syndrome (VWS) where individuals have CL/P or CPO, often but not always associated with lower lip pits. Recently, ∼5% of VWS-affected individuals were identified with mutations...

Journal: :American journal of medical genetics 1992
L J Nemana M L Marazita M Melnick

We performed a genetic analysis of 331 non-syndromic cleft lip with or without cleft palate (CL +/- P) proband families ascertained in Madras, India. Predictions of the multifactorial threshold (MF/T) model are tested; goodness-of-fit tests of the MF/T model and complex segregation analysis are also utilized to clarify the genetic etiology of CL +/- P in this study population. There was little ...

Journal: :Journal of medical genetics 1992
S E Holder G M Vintiner B Farren S Malcolm R M Winter

Three RFLPs at the TGFA locus were studied in 60 unrelated British Caucasian subjects with non-syndromic cleft lip/palate and 60 controls. A highly significant association between the TaqI RFLP and the occurrence of clefting was found (chi 2 = 15.04, p = less than 0.001). No significant association was found with the two other RFLPs studied (BamHI and RsaI). Haplotypes derived from the three RF...

Journal: :Human molecular genetics 2004
Philip Stanier Gudrun E Moore

Clefts of the lip and/or palate (CL/P) are among the most common birth defects worldwide. The majority are non-syndromic where CL/P occurs in isolation of other phenotypes. Where one or more additional features are involved, clefts are referred to as syndromic. Collectively CL/P has a major clinical impact requiring surgical, dental, orthodontic, speech, hearing and psychological treatments or ...

Journal: :SADJ : journal of the South African Dental Association = tydskrif van die Suid-Afrikaanse Tandheelkundige Vereniging 2007
K W Bütow P J van Wyk R A Zwahlen

OBJECTIVE The purpose of this study was to determine the difference in prevalence of the different categories of facial cleft deformities between the white and black patients in a database of 2806 cleft cases at the University of Pretoria. No variation of clefts between these two groups has ever been compared previously. For this purpose, the clefts were classified according to the system descr...

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