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omphalocele with absent radial ray complex
Tuesday 28 August 2007
Synopsis
omphalocele radial aplasia (radial agenesis, absence of radii) humeral hypoplasia hemivertebra syndactyly
Etiology
diploid-triploid mixoploidy (#9475588#)
See also
radial ray defects, omphalocele, diaphragmatic hernia, and hepatic cyst association (Gershoni-Baruch syndrome) (MIM.609545)
References
Devriendt K, Fryns JP, Moerman P, Vanhole C, Devlieger H. Heterogeneity in omphalocoele with absent radial ray complex. Am J Med Genet. 1999 Jan 1;82(1):95-6. PMID: #9916853#
Lin HJ, Schaber B, Hashimoto CH, Barajas L, Beall MH, Lachman RS. Omphalocele with absent radial ray (ORR): a case with diploid-triploid mixoploidy. Am J Med Genet. 1998 Jan 23;75(3):235-9. PMID: #9475588#
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#
