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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#

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