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September 1973

Smith-Lemli-Opitz Syndrome in a 23-Year-Old Man

Author Affiliations

Austin, Tex; Mexia, Tex

From the Department of Zoology, University of Texas at Austin (Dr. Deaton), and Mexia State School, Texas (Dr. Mendoza).

Arch Intern Med. 1973;132(3):422-423. doi:10.1001/archinte.1973.03650090094017

In 1964 Smith, Lemli, and Opitz1 described a syndrome consisting of mental and physical retardation, microcephaly, and a characteristic facial appearance. A small jaw, apparently low-set ears, anteverted nostrils, and broad maxillary alveolar ridges are usually present, and an increased number of digital whorls, cleft palate, and strabismus have been noted. Feeding problems or pyloric stenosis may be present during infancy, along with irritability and nocturnal episodes of screaming.2

A 23-year-old man has clinical features of the Smith-Lemli-Opitz syndrome. Most of the more than 40 patients3 reported to have this syndrome have been infants or children, but survival to adulthood is possible. One patient with features of Smith-Lemli-Opitz syndrome reached the age of 20 years.4

Patient Summary  The patient was born at eight months gestation, on March 25, 1948. His birth weight was 2.3 kg. The 28-year-old mother had only one previous pregnancy that had ended

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