Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype.
We have reviewed all known UK cases of Smith-Lemli-Opitz syndrome. Among 49 cases with proven 7-dehydrocholesterol reductase deficiency, half had been terminated or had died in infancy. The minimum incidence is 1 in 60,000. The frequent occurrence of hypospadias may account for 71% of recognised cases being male. Important common features which emerged include short thumbs, severe photosensitivity, aggressive behaviour, and atrioventricular septal defect. The typical facial appearance becomes less obvious with age and 20% of cases did not have 2/3 toe syndactyly. Biochemical measurements of serum 7-dehydrocholesterol did not correlate with clinical severity.
Department of Human Genetics, University of Newcastle upon Tyne, UK.
A K
AK
Ryan
K
K
Bartlett
P
P
Clayton
S
S
Eaton
L
L
Mills
D
D
Donnai
R M
RM
Winter
J
J
Burn
D000328:Adult; D000374:Aggression; D002791:Cholesterol, Dietary / Q000008:administration & dosage; D019465:Craniofacial Abnormalities / Q000235:genetics; D003684:Dehydrocholesterols / Q000097:blood; D005260:Female; D006343:Heart Septal Defects / Q000235:genetics; D006801:Humans; D007021:Hypospadias / Q000235:genetics; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D010787:Photosensitivity Disorders / Q000235:genetics; D011247:Pregnancy; D019082:Smith-Lemli-Opitz Syndrome / Q000097:blood / Q000235:genetics* / Q000473:pathology; D013933:Thumb / Q000002:abnormalities; D006113:United Kingdom / Q000453:epidemiology
D002791:Cholesterol, Dietary; D003684:Dehydrocholesterols; C016705:7-dehydrocholesterol