Prenatal diagnosis, 1999-02, Vol.19 (2), p.105-107
1999
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Details
- Autor(en) / Beteiligte
- Titel
- Smith-Lemli-Opitz syndrome presenting with persisting nuchal oedema and non-immune hydrops
- Ist Teil von
- Prenatal diagnosis, 1999-02, Vol.19 (2), p.105-107
- Ort / Verlag
- Chichester, UK: John Wiley & Sons, Ltd
- Erscheinungsjahr
- 1999
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- 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. Copyright © 1999 John Wiley & Sons, Ltd.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0197-3851eISSN: 1097-0223DOI: 10.1002/(SICI)1097-0223(199902)19:2<105::AID-PD471>3.0.CO;2-WTitel-ID: cdi_proquest_miscellaneous_69705963
- Format
- –
- Schlagworte
- Adult, Biological and medical sciences, Cholesterol - metabolism, Edema, Fatal Outcome, Female, Gynecology. Andrology. Obstetrics, Humans, hydrops, Infant, Newborn, Male, Management. Prenatal diagnosis, Medical sciences, nuchal translucency, Pregnancy, Pregnancy Outcome, Pregnancy Trimester, Third, Pregnancy. Fetus. Placenta, Prenatal Diagnosis, Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz Syndrome - diagnosis