The Silver-Russel syndrome: a case with sexual ambiguity, and a review of literature

Am J Dis Child. 1977 Apr;131(4):447-51. doi: 10.1001/archpedi.1977.02120170073015.


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).

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Child, Preschool
  • Cryptorchidism / genetics
  • Disorders of Sex Development / genetics*
  • Dwarfism / congenital
  • Humans
  • Hypospadias / genetics
  • Infant
  • Karyotyping
  • Male
  • Syndrome