Cleft lip and palate, hypertelorism, brachycephaly, flat facial profile, and congenital heart disease in three brothers.
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.
Nevin
N C
NC
Belfast City Hospital Trust, and Department of Medical Genetics, The Queen's University of Belfast, Northern Ireland, UK.
Craig
B G
BG
Mullholland
H C
HC
Casey
F
F
D000328:Adult; D002971:Cleft Lip / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D005260:Female; D006257:Head / Q000002:abnormalities; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D006972:Hypertelorism / Q000235:genetics*; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy