Smith-Lemli-Opitz syndrome presenting with persisting nuchal oedema and non-immune hydrops

R. Maymon, R. F. Ogle, L. S. Chitty*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

Smith-Lemli-Opitz syndrome (SLO) is a recognized clinical entity with distinctive anomalies. Recently it has been shown that a specific defect in cholesterol metabolism, 7-dehydroxycholesterol reductase deficiency causes the multiple abnormalities seen in SLO. There have been two reports of first-trimester nuchal translucency associated with SLO. We report two cases of SLO in the third trimester, one with persisting nuchal oedema and the other presenting with hydrops. These findings may explain a proportion of the perinatal loss associated with this syndrome.

Original languageEnglish
Pages (from-to)105-107
Number of pages3
JournalPrenatal Diagnosis
Volume19
Issue number2
DOIs
StatePublished - 1999
Externally publishedYes

Keywords

  • Hydrops
  • Nuchal translucency
  • Prenatal diagnosis
  • Smith-Lemli-Opitz syndrome

Fingerprint

Dive into the research topics of 'Smith-Lemli-Opitz syndrome presenting with persisting nuchal oedema and non-immune hydrops'. Together they form a unique fingerprint.

Cite this