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Two sibs with Malpuech syndrome
G Crisponi1, A R Marras, A Corrias
1Centro per lo Studio delle Malformazioni Congenite and Servizio di Puericultura, Università di Cagliari, Cagliari, Italy. gczispon@.vazca1.unica.it
American Journal of Medical Genetics
|September 14, 1999
Abstract:
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.