Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findings.

doi:10.1002/(sici)1096-8628(19980806)78:5<419::aid-ajmg5>3.0.co;2-g

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Article

Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findings.

American journal of medical genetics - 6 Aug 1998

Nowaczyk M J, Whelan D T, Hill R E

Abstract excerpt

Smith-Lemli-Opitz syndrome (SLO) is caused by inherited enzymatic deficiency of 7-dehydrocholesterol-delta7-reductase and resultant cholesterol deficiency. It comprises a characteristic combination of facial features, malformations, and mental retardation. We report on three related patients (two...

Topics

Cholesterol
Dehydrocholesterols
Female
Genes, Recessive
Growth Disorders
Heterozygote
Humans
Infant
Intellectual Disability
Male
Mental Disorders
Oxidoreductases
Oxidoreductases Acting on CH-CH Group Donors
Phenotype
Smith-Lemli-Opitz Syndrome
Syndactyly

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