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Severe Smith-Lemli-Opitz syndrome with prolonged survival and lipid abnormalities.

par Pierquin, G;Peeters, P;Roels, F;Vamos, Eszter ;Brucher, Jean Marie;Tint, G S;Honda, A;Van Regemorter, Nicole
Référence American journal of medical genetics, 56, 3, page (276-280)
Publication Publié, 1995-04

Article révisé par les pairs

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Résumé :

We have studied a girl with multiple congenital anomalies, growth and mental deficiency, characteristic facial anomalies, cataracts, cerebellar atrophy, and severe hypocholesterolemia. Death occurred at age 7 years. After excluding several syndromes, i.e., peroxisomal disorders, mevalonic acidaemia, and Marinesco-Sjögren syndrome, it is concluded that this girl had severe Smith-Lemli-Opitz Syndrome (SLOS) with exceptionally long survival. This diagnosis was confirmed through assay of 7-dehydrocholesterol in cultured fibroblasts.