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


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
Issue number2
StatePublished - 1999
Externally publishedYes


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


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