Smith-Lemli-Opitz syndrome in female, monozygotic twins

Clin Genet. 1991 Sep;40(3):229-32. doi: 10.1111/j.1399-0004.1991.tb03082.x.


A pair of monozygotic female twins with SLO syndrome is presented. We have found only one paper in the literature that referred to twins with this rare syndrome. The multiple congenital defects in these cases, consist of limb and genital abnormalities, retardation of growth, mental deficiency, craniofacial defects and abnormal neurological status.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child, Preschool
  • Female
  • Genes, Recessive / genetics
  • Genitalia, Female / abnormalities*
  • Humans
  • Intellectual Disability / genetics*
  • Twins, Monozygotic / genetics*