Article
Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype.
Journal of medical genetics - 1 Jul 1998
Ryan A K, Bartlett K, Clayton P, Eaton S, Mills L, Donnai D, Winter R M, Burn J
Abstract excerpt
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...
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