• A 38-month-old patient with Silver-Russell 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).
(Am J Dis Child 131:447-451, 1977)
Marks LJ, Bergeson PS. The Silver-Russell Syndrome: A Case With Sexual Ambiguity, and a Review of the Literature. Am J Dis Child. 1977;131(4):447–451. doi:10.1001/archpedi.1977.02120170073015
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