The Silver-Russel syndrome: a case with sexual ambiguity, and a review of literature.
A 38-month-old patient with Silver-Russel syndrome (SRS) and ambiguous genitalia had a 46,XY karyotype on leukocyte and fibroblast cultures. This is the third SRS child with ambiguous genitalia described in the literature. In a review of the findings in 148 reported cases of the syndrome, abnormalities occurring in over 50% of the cases are short stature, craniofacial dysproportion, low birth weight, term gestation, body asymmetry, incurved fifth digits, normal intelligence, short fifth digits, and down-curved corners of the mouth (shark mouth).
D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D003456:Cryptorchidism / Q000235:genetics; D012734:Disorders of Sex Development / Q000235:genetics*; D004392:Dwarfism / Q000151:congenital; D006801:Humans; D007021:Hypospadias / Q000235:genetics; D007223:Infant; D007621:Karyotyping; D008297:Male; D013577:Syndrome