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RSH (Smith-Lemli-Opitz) syndrome: "severe" phenotype with ectrodactyly
G de Jong1, P A Kirby, L M Muller
1Department of Genetics, University of Stellenbosch Medical School, Tygerberg, South Africa. GdJ@maties.sun.ac.za
American Journal of Medical Genetics
|February 25, 1998
Abstract:
We describe the antenatal ultrasound findings of growth retardation, oligohydramnios, mesomelic limb shortness, and cardiac, renal, and hand defects in a fetus who was postnatally diagnosed as having RSH ("Smith-Lemli-Opitz") syndrome. An unusual finding was ectrodactyly of both hands.