Severe Smith-Lemli-Opitz syndrome with prolonged survival and lipid abnormalities.
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.
Pierquin
G
G
Centre de Génétique-ULB, Hôpital Erasme, Brussels, Belgium.
Peeters
P
P
Roels
F
F
Vamos
E
E
Brucher
J M
JM
Tint
G S
GS
Honda
A
A
Van Regemorter
N
N
D000015:Abnormalities, Multiple / Q000097:blood / Q000235:genetics / Q000473:pathology*; D002784:Cholesterol / Q000378:metabolism*; D008076:Cholesterol, HDL / Q000097:blood; D008078:Cholesterol, LDL / Q000097:blood; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008052:Lipid Metabolism, Inborn Errors / Q000097:blood / Q000235:genetics / Q000473:pathology*; D008099:Liver / Q000473:pathology; D010641:Phenotype; D013577:Syndrome
D008076:Cholesterol, HDL; D008078:Cholesterol, LDL; D002784:Cholesterol