Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work?

Birth Defects Res A Clin Mol Teratol. 2005 Aug;73(8):569-71. doi: 10.1002/bdra.20165.

Abstract

Background: Trisomy 13 and Smith-Lemli-Opitz syndrome (SLOS) are both well-recognized multiple congenital anomaly/mental retardation syndromes.

Case: In this report we describe a male newborn with trisomy 13 who also has features of SLOS, such as 2/3 toe syndactyly and a shawl-like scrotum. Biochemical analysis was consistent with SLOS, and limited molecular analysis revealed 1 mutation in the DHCR7 gene.

Conclusions: The challenges in establishing the diagnosis of SLOS in this patient are presented and the unique coexistence of the 2 major malformation syndromes is discussed. Given the overlapping phenotype of the 2 syndromes, our report should encourage further research on cholesterol biosynthesis in patients with trisomy 13.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Chromosomes, Human, Pair 13*
  • Humans
  • Infant, Newborn
  • Male
  • Oxidoreductases Acting on CH-CH Group Donors / genetics*
  • Smith-Lemli-Opitz Syndrome / diagnosis
  • Smith-Lemli-Opitz Syndrome / genetics
  • Smith-Lemli-Opitz Syndrome / pathology*
  • Trisomy / diagnosis
  • Trisomy / genetics
  • Trisomy / pathology*

Substances

  • Oxidoreductases Acting on CH-CH Group Donors
  • 7-dehydrocholesterol reductase