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May 1968

Picture of the Month

Author Affiliations

From the Boston Floating Hospital, Boston.

Am J Dis Child. 1968;115(5):603-604. doi:10.1001/archpedi.1968.02100010605011

Denouement and Discussion 

Smith-Lemli-Opitz Syndrome 

Manifestations  Mental retardation, skeletal and genital abnormalities, growth retardation, and a characteristic facial appearance are the major manifestations. There is usually intrauterine growth retardation with short stature and failure to thrive. Microcephaly, epicanthal folds, ptosis and strabismus are frequently found. The ears may be low set and there is a broad bridge of the nose with up-turned nares. The mouth shows a prominent maxillary alveolus, long upper lip, cleft uvula, high arched palate, and micrognathia. In boys, hypospadias and cryptorchidism are frequently found whereas the genitalia in girls are usually normal. There is frequent vomiting in infancy and an increased incidence of pyloric stenosis. Polydactyly, syndactyly, brachydactyly, and metatarsus adductus are frequent skeletal abnormalities. A single palmar crease or abnormal dermatoglyphics can be found. There is mental/motor retardation with hypertonicity and occasionally hypotonicity.

Genetics  Probably autosomal recessive type of inheritance.

Treatment  Special schooling may be

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