Hypertelorism with Cleft Palate

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FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate.

Nonsyndromic orofacial clefts are a common complex birth defect caused by genetic and environmental factors and/or their interactions. A previous genome-wide linkage scan discovered a novel locus for cleft lip with or without cleft palate (CL/P) at 9q22-q33. To identify the etiologic gene, we undertook an iterative and complementary fine mapping strategy using family-based CL/P samples from Col...

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Cleft Palate

An infant born with a cleft palate inherits many handicaps. Unable to develop intraoral negative pressure, he cannot suckle and hence cannot feed in a normal fashion. Furthermore, on swallowing, he expels his feedings through the nose. The open cleft, because of failure to warm and moisten the inspired air, produces a continuing sore throat. The middle ears become secondarily involved with sero...

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Cleft Lip and Cleft Palate

Cleft lip (cheiloschisis) and cleft palate (palatoschisis) can occur individual or together. Individuals with CLP may experience problems with feeding, speaking, hearing and social integration that can be corrected to varying degrees by surgery, dental treatment, speech therapy and psychological intervention. In India over 35,000 babies per year are affected. This review signifies the etiologic...

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Kabuki Syndrome with Cleft Palate

Kabuki syndrome is a rare condition characterized by multiple congenital anomalies and intellectual disabilities [1]. The etiology of Kabuki syndrome is unclear, but the syndrome is known to have an autosomal dominant mode of inheritance. Furthermore, mutations in the MLL2 and KDM6A genes have recently been suggested as causes of this syndrome [2]. The five major clinical manifestations of this...

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ژورنال

عنوان ژورنال: Proceedings of the Royal Society of Medicine

سال: 1933

ISSN: 0035-9157

DOI: 10.1177/003591573302600817