Pseudohermaphroditism, Female, With Skeletal Anomalies

In 2 daughters of a first-cousin marriage, Park et al. (1972) described primary amenorrhea, ambiguous external genitalia, and bony abnormalities (hypoplasia and shortening of mandibular condyles, hypoplasia of maxilla, fusion of humerus, and ulnar dislocation of radial heads, etc.). Karyotype was normal female. The clitoris was enlarged with marked fusion of the labioscrotal folds. The vagina was of normal size. Ovaries, tubes and uterus were normal.