RSH (Smith-Lemli-Opitz) syndrome: "severe" phenotype with ectrodactyly.
作者信息
de Jong G, Kirby P A, Muller L M
机构信息
Department of Genetics, University of Stellenbosch Medical School, Tygerberg, South Africa.
出版信息
Am J Med Genet. 1998 Jan 23;75(3):283-7. doi: 10.1002/(sici)1096-8628(19980123)75:3<283::aid-ajmg11>3.0.co;2-l.
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.
摘要
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