Article Text

PDF

Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype.
  1. A K Ryan,
  2. K Bartlett,
  3. P Clayton,
  4. S Eaton,
  5. L Mills,
  6. D Donnai,
  7. R M Winter,
  8. J Burn
  1. Department of Human Genetics, University of Newcastle upon Tyne, UK.

    Abstract

    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.

    Statistics from Altmetric.com

    Request permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.