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

Fowzan S. Alkuraya*, Jonathan Picker, Mira B. Irons, Virginia E. Kimonis

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

2 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)569-571
Number of pages3
JournalBirth Defects Research Part A - Clinical and Molecular Teratology
Volume73
Issue number8
DOIs
StatePublished - Aug 2005
Externally publishedYes

Keywords

  • Neonate
  • Shawl-like scrotum
  • SLOS
  • Syndactyly
  • Trisomy 13

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Embryology
  • Developmental Biology

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