Home > D. General pathology > Genetic and developmental anomalies > Malformative associations > radial ray defects, omphalocele, diaphragmatic hernia, and hepatic cyst (...)
radial ray defects, omphalocele, diaphragmatic hernia, and hepatic cyst association
MIM.609545
Monday 13 March 2006
Gershoni-Baruch syndrome is a multiple congenital malformation complex characterized by omphalocele, diaphragmatic hernia, cardiovascular abnormalities, and radial ray defects. Autosomal recessive inheritance is suggested.
Synopsis
schisis defects
malformations of hands and feet
References
Franceschini P, Guala A, Licata D, Botta G, Flora F, Angeli G, Di Cara G, Franceschini D. Gershoni-Baruch syndrome: report of a new family confirming autosomal recessive inheritance. Am J Med Genet A. 2003 Oct 1;122(2):174-9. PMID: 12955772
References
Gershoni-Baruch R, Machoul I, Weiss Y, Blazer S. Unknown syndrome: radial ray defects, omphalocele, diaphragmatic hernia, and hepatic cyst. J Med Genet. 1990 Jun;27(6):403-4. PMID: 2359107