Bilateral femoral hypoplasia associated with Rokitansky sequence: another example of a mesodermal malformation spectrum?

C H Bau; C A Ribeiro; S A Ribeiro; R Z Flores

doi:10.1002/ajmg.1320490209

Bilateral femoral hypoplasia associated with Rokitansky sequence: another example of a mesodermal malformation spectrum?

Am J Med Genet. 1994 Jan 15;49(2):205-6. doi: 10.1002/ajmg.1320490209.

Authors

C H Bau¹, C A Ribeiro, S A Ribeiro, R Z Flores

Affiliation

¹ Unidade de Genética Médica, Hospital de Clínicas de Porto Alegre, Brazil.

PMID: 8116669
DOI: 10.1002/ajmg.1320490209

Abstract

We report on a woman with bilateral femoral hypoplasia and Rokitansky sequence, malformations that up to now had not been described together. There are no other cases in the family, and no history of prenatal teratogen exposure. This case may be part of a mesodermal malformation spectrum.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / pathology*
Adult
Ectromelia / pathology*
Female
Femur / abnormalities*
Genitalia, Female / abnormalities*
Humans
Mesoderm