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...
Topics
- Adult
- Aggression
- Cholesterol, Dietary
- Craniofacial Abnormalities
- Dehydrocholesterols
- Female
- Heart Septal Defects
- Humans
- Hypospadias
- Infant
- Infant, Newborn
- Male
- Phenotype
- Photosensitivity Disorders
- Pregnancy
- Smith-Lemli-Opitz Syndrome
- Thumb
- United Kingdom