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A Case With Sexual Ambiguity, and a Review of the Literature

Leonard J. Marks, MD; Paul S. Bergeson, MD

Am J Dis Child. 1977;131(4):447-451.

Abstract
• 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)

Author Affiliations
From the Department of Pediatrics, Good Samaritan Hospital, Phoenix, Aria.

Footnotes
Reprint requests to Good Samaritan Hospital, 1033 E McDowell Rd, Phoenix, AZ 85006 (Dr Bergeson).

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