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
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.