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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