[CITATION][C] Cataracts in the Smith-Lemli-Opitz syndrome

E Cotlier, P Rice - American journal of ophthalmology, 1971 - Elsevier
E Cotlier, P Rice
American journal of ophthalmology, 1971Elsevier
A constellation of phenotypic anomalies are present in the Smith-Lemli-Opitz syn drome:(1)
microcephaly with narrow trans verse diameter of the cranial vault,(2) broad maxillary
alveolar ridge,(3) short nose with anteverted nares,(4) micrognathia,(5) polydactyly and
syndactyly of the second and third toes,(6) hypospadias and cryptorchidism (male
pseudohermaphroditism),(7) mental retardation, and (8) con genital pyloric stenosis. Four
children with the Smith-Lemli-Opitz syndrome were ini tially described in 1964. 1 Eleven …
A constellation of phenotypic anomalies are present in the Smith-Lemli-Opitz syn drome:(1) microcephaly with narrow trans verse diameter of the cranial vault,(2) broad maxillary alveolar ridge,(3) short nose with anteverted nares,(4) micrognathia,(5) polydactyly and syndactyly of the second and third toes,(6) hypospadias and cryptorchidism (male pseudohermaphroditism),(7) mental retardation, and (8) con genital pyloric stenosis. Four children with the Smith-Lemli-Opitz syndrome were ini tially described in 1964. 1 Eleven additional children have been reported since, 2" 6 but none in the ophthalmic literature. The pediatric reports included brief descriptions of the eyes; cataracts were noted in two such patients. 4-6 A child with Smith-Lemli-Opitz syndrome and cataracts who underwent suc cessful cataract surgery is described here.
CASE REPORT At the time of this report, this boy was eight years old (Figs. 1 and 2). His eyes were examined■ in repeated occasions, twice under general anesthe-. ia. He was born March 1, 1962, to apparently! ealthy parents. The mother (age 22) had experi-(ced four spontaneous abortions prior to his birth. 1'here was, however, no history of familial diseases or consanguinity. Gestation lasted 40 weeks and the
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