PEDIATRICS Vol. 47 No. 5 May 1971, pp. 844-847
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SMITH-LEMLI-OPITZ SYNDROME WITH CARDIOVASCULAR ABNORMALITY

Carl D. Robinson M.D.1, Lowell W. Perry M.D.1, Amnat Barlee M.D.1, and Gordon W. Mella M.D.1

1 Children's Hospital of the District of Columbia and George Washington University School of Medicine, Washington, D.C.

Smith, Lemli, and Opitz in 1964 described in three unrelated male children a syndrome consisting of failure to thrive, mental retardation, microcephaly, disorders of the neuromuscular system, typical facies with anteverted nares, micrognathia, broad maxillary ridge, and low set ears. Over 95% of males with the syndrome have hypospadias with or without cryptorchidism. Females have normal genitalia. Cutaneous syndactyly of the second and third toes commonly occurs. Chromosome karyotype is normal. The present case represents the fortieth to be reported. Of the 40 reported cases, eight or 20% had congenital heart disease which would appear to be emerging as a common feature of the syndrome. No specific cardiac lesion is predominantly seen.

Submitted on April 10, 1970
Accepted on December 16, 1970




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Clinical Pediatrics, July 1, 1977; 16(7): 667 - 668.
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