omphalocele, short limbs, and macrogonadism
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#