September 1972

Smith-Lemli-Opitz Syndrome in an Inbred Family

Author Affiliations

Haifa, Israel; Tel Aviv, Israel
From Haifa University and Genetics Clinic of Rambam Hospital (Dr. Nevo); the Department of Pediatrics, Rambam Hospital (Haifa) (Drs. Benderly and Levy); and Tel-Aviv University Medical School (Dr. Katznelson).

Am J Dis Child. 1972;124(3):431-433. doi:10.1001/archpedi.1972.02110150129021

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.