Otitis Media in Nonsyndromic Orofacial Cleft Families
نویسندگان
چکیده
منابع مشابه
Human genetic factors in nonsyndromic cleft lip and palate: an update.
Nonsyndromic cleft lip and/or palate (or orofacial cleft, OFC) is a malformation characterized by an incomplete separation between nasal and oral cavities without any associated anomalies. The last point defines the distinction between syndromic and nonsyndromic OFC. Nonsyndromic OFC is one of the most common malformations among live births and is composed of two separate entities: cleft lip wi...
متن کاملSequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate.
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...
متن کاملCurrent concepts in the embryology and genetics of cleft lip and cleft palate.
Many mechanisms underlying normal and abnormal craniofacial embryogenesis are well understood. The genetic factors that provoke abnormal development and result in orofacial clefts are not clear, but much progress has occurred in our understanding. Genes or chromosomal rearrangements on many chromosomes can lead to syndromes that include orofacial clefts. This diversity in the mechanisms that ca...
متن کاملAssociation study between Van der Woude Syndrome causative gene GRHL3 and nonsyndromic cleft lip with or without cleft palate in a Chinese cohort.
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 nonsyndrom...
متن کاملSyndromes and anomalies associated with cleft
Orofacial clefts are one of the commonest birth defects, and may be associated with other congenital anomalies. The majority of these orofacial clefts are nonsyndromic . A significant percentage of these clefts both syndromic and non-syndromic may have associated anomalies. Apart from reviewing other studies, this article also analyses a study of associated anomalies from a tertiary cleft centr...
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تاریخ انتشار 2014