RSH (Smith-Lemli-Opitz) syndrome: "severe" phenotype with ectrodactyly

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.

Publication types

  • Case Reports

MeSH terms

  • Brain / pathology
  • Chromosomes, Human, Pair 7 / genetics
  • Fatal Outcome
  • Female
  • Foot Deformities, Congenital / diagnostic imaging
  • Foot Deformities, Congenital / genetics*
  • Foot Deformities, Congenital / pathology
  • Hand Deformities, Congenital / diagnostic imaging
  • Hand Deformities, Congenital / genetics*
  • Hand Deformities, Congenital / pathology
  • Heart Defects, Congenital / genetics
  • Humans
  • Infant, Newborn
  • Phenotype
  • Radiography
  • Smith-Lemli-Opitz Syndrome / diagnostic imaging
  • Smith-Lemli-Opitz Syndrome / genetics*
  • Smith-Lemli-Opitz Syndrome / pathology