Two sibs with Malpuech syndrome.

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.

• Authors: G Crisponi, A R Marras, A Corrias
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 86 Issue 3 Pg. 294-9 (Sep 17 1999) ISSN: 0148-7299 [Print] United States
• PMID: 10482884 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright 1999 Wiley-Liss, Inc.

Topics

• Abnormalities, Multiple (genetics)
• Child
• Cleft Lip (genetics)
• Cleft Palate (genetics)
• Deafness (genetics)
• Genes, Recessive
• Hernia, Umbilical (genetics)
• Humans
• Hypertelorism (genetics)
• Intellectual Disability (genetics)
• Male
• Syndrome
• Urogenital Abnormalities (genetics)