W syndrome: Report of three cases and review

Only three cases of W syndrome have been reported. These patients have a ty pical "pugilistic" face, incomplete oral cleft, absent upper incisors, ment al retardation, spasticity, seizures, and acne scars. Two of them had addit ional skeletal anomalies. Here we report on three male patients with findin gs compatible with the W syndrome. We emphasize the importance of some cons tant findings and describe additional signs. Familial history supports X-li nked dominant heredity, as postulated previously. Am. J. Med. Genet, 87:446 -449, 1999. (C) 1999 Wiley-Liss, Inc.