G syndrome: report of two cases.
This report concerns two cases of G syndrome in male neonates with hypertelorism, hypospadias and hoarse/voiceless cry. Case 1 had a positive family history; all similarly affected relatives have apparent hypertelorism. Case 2 seemed to represent a new mutation, since the parents are apparently normal, and the family history was non-contributory. The clinical expression of Case 1 was relatively severe and needed further surgical management, such as imperforate anus, hypospadias, and vesicoureteral reflux. Case 2 had two manifestations not previously reported: hypoplasia of cerebellum and web neck.
Tsai
F J
FJ
Department of Pediatrics, China Medical College Hospital, Taichung, Taiwan.
Lin
J S
JS
Tsai
C H
CH
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy