Home > D. Systemic pathology > Genetic and developmental anomalies > Malformative associations > omphalocele, short limbs, and macrogonadism

omphalocele, short limbs, and macrogonadism

Friday 31 August 2007

Synopsis

- omphalocele (exomphalos)
- short limbs
- nuchal web
- macrogonadism
- facial dysmorphism

See also

- multiple congenital abnormality syndromes (MCAs)

References

- Faivre L, Delezoide AL, Narcy F, Razavi F, Bouvier R, Cormier-Daire V, Briard ML, Lyonnet S, Vekemans M, Munnich A, Le Merrer M. A new lethal syndrome of exomphalos, short limbs, and macrogonadism. J Med Genet. 1999 Feb;36(2):131-6. PMID: #10051012#