Bilateral femoral hypoplasia associated with Rokitansky sequence: another example of a mesodermal malformation spectrum?
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.
Bau
C H
CH
Unidade de Genética Médica, Hospital de Clínicas de Porto Alegre, Brazil.
Ribeiro
C A
CA
Ribeiro
S A
SA
Flores
R Z
RZ
D000015:Abnormalities, Multiple / Q000473:pathology*; D000328:Adult; D004480:Ectromelia / Q000473:pathology*; D005260:Female; D005269:Femur / Q000002:abnormalities*; D005836:Genitalia, Female / Q000002:abnormalities*; D006801:Humans; D008648:Mesoderm