Two sibs with Malpuech syndrome.
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.
Crisponi
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Centro per lo Studio delle Malformazioni Congenite and Servizio di Puericultura, Università di Cagliari, Cagliari, Italy. gczispon@.vazca1.unica.it
Marras
A R
AR
Corrias
A
A
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D003638:Deafness / Q000235:genetics; D005808:Genes, Recessive; D006554:Hernia, Umbilical / Q000235:genetics; D006801:Humans; D006972:Hypertelorism / Q000235:genetics; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D013577:Syndrome; D014564:Urogenital Abnormalities / Q000235:genetics