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

@article{Ryan1998SmithLemliOpitzSA,
  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},
  year={1998},
  volume={35 7},
  pages={558-65}
}
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
Highly Influential
This paper has highly influenced a number of papers. REVIEW HIGHLY INFLUENTIAL CITATIONS