The Silver-Russel syndrome: a case with sexual ambiguity, and a review of literature
L. J. Marks and P. S. Bergeson
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).
