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Two sibs with Malpuech syndrome

1999; Wiley; Volume: 86; Issue: 3 Linguagem: Inglês

10.1002/(sici)1096-8628(19990917)86

1096-8628

Giangiorgio Crisponi, Andrea Raffaele Marras, A Corrias,

Cleft Lip and Palate Research

We report on two Italian brothers with facial clefting, hypertelorism, urogenital anomalies including micropenis, shawl scrotum, hearing loss, caudal appendage, and umbilical hernia. We have evaluated the two cases as Malpuech syndrome. This is an extremely rare autosomal recessive syndrome. Am. J. Med. Genet. 86:294–299, 1999. © 1999 Wiley-Liss, Inc.