Smith-Lemli-Opitz syndrome in an inbred family.

Abstract

A case of the Smith-Lemli-Opitz syndrome is reported in an 18-month-old boy. He presented with antenatal and postnatal growth retardation, microcephaly, convergent strabismus, broad based nose with upturned nares, a narrow high-arched palate, genital anomalies, and bilateral cutaneous syndactyly of his second and third toes. He had a normal male karyotype. The parents of the child are second cousins, a fact considered to be supporting evidence for an autosomal recessive mode of inheritance in this syndrome. Dermatoglyphic analyses of the family and in other reported cases, suggest little of diagnostic value in this technique.