CLEFT-LIP AND PALATE, HYPERTELORISM, BRACHYCEPHALY, FLAT FACIAL PROFILE, AND CONGENITAL HEART-DISEASE IN 3 BROTHERS

Citation
Nc. Nevin et al., CLEFT-LIP AND PALATE, HYPERTELORISM, BRACHYCEPHALY, FLAT FACIAL PROFILE, AND CONGENITAL HEART-DISEASE IN 3 BROTHERS, American journal of medical genetics, 73(4), 1997, pp. 412-415
Citations number
7
Categorie Soggetti
Genetics & Heredity
ISSN journal
01487299
Volume
73
Issue
4
Year of publication
1997
Pages
412 - 415
Database
ISI
SICI code
0148-7299(1997)73:4<412:CAPHBF>2.0.ZU;2-2
Abstract
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 comp lex heart defects. The brother also had a bilobed tongue and the siste r had malrotation of the intestine and bifid thumbs. We describe three brothers with similar anomalies apart from the bilobed tongue, malrot ation of the intestine, and bifid thumbs. McPherson and Clemens [1996: Am J Med Genet 62:58-60] suggested autosomal recessive inheritance. O ur observation of three affected brothers also raises the possibility of X-linked recessive inheritance. (C) 1997 Wiley-Liss, Inc.