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Cleft lip and palate, hypertelorism, brachycephaly, flat facial profile, and congenital heart disease in three brothers

✍ Scribed by Nevin, Norman C.; Craig, Brian G.; Mullholland, H. Connor; Casey, Frank

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 25 KB
Volume: 73
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19971231)73:4<412::aid-ajmg8>3.0.co;2-p

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✦ Synopsis

A "new" syndrome was identified by McPherson and Clemens [1996: Am J Med Genet 62:58-60] in a brother and sister with bilateral cleft lip and palate, hypertelorism, flat facial profile, flat occiput, and complex heart defects. The brother also had a bilobed tongue and the sister had malrotation of the intestine and bifid thumbs. We describe three brothers with similar anomalies apart from the bilobed tongue, malrotation of the intestine, and bifid thumbs. McPherson and Clemens [1996: Am J Med Genet 62:58-60] suggested autosomal recessive inheritance. Our observation of three affected brothers also raises the possibility of X-linked recessive inheritance.

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