title: Smith-Lemli-Opitz syndrome presenting with persisting nuchal oedema and non-immune hydrops.
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.
authors.affiliation: Fetal Medicine Unit, Obstetric Hospital, London, UK.
authors.forename: R
authors.initials: R
authors.lastname: Maymon
authors.forename: R F
authors.initials: RF
authors.lastname: Ogle
authors.forename: L S
authors.initials: LS
authors.lastname: Chitty
mesh_terms: D000328:Adult; D002784:Cholesterol / Q000378:metabolism*; D004487:Edema; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011256:Pregnancy Outcome; D011263:Pregnancy Trimester, Third; D011296:Prenatal Diagnosis; D019082:Smith-Lemli-Opitz Syndrome / Q000175:diagnosis*
chemical_list: D002784:Cholesterol