Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype.

  title={Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype.},
  author={Aimee K. Ryan and Kim Bartlett and P. Clayton and Susan A. Eaton and Lisa Mills and Dian Donnai and Robin Winter and John Burn},
  journal={Journal of medical genetics},
  volume={35 7},
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… CONTINUE READING
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