PEDIATRICS Vol. 79 No. 1 January 1987, pp. 125-128
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Silver-Russell Syndrome With Unusual Findings

KAREN KIRHOFER HANSEN MD1, LARRY A. LATSON MD1, BRUCE A. BUEHLER MD2, and LARRY A. LATSON MD3

1 Department of Pediatrics, Creighton University School of Medicine, Omaha
2 Department of Pediatrics, University of Nebraska College of Medicine, Meyer's Children's Rehabilitation Institute, Omaha
3 Departments of Pediatrics, Creighton University School of Medicine, University of Nebraska College of Medicine, Omaha

In 1953, Silver et al1 described a syndrome of short stature and low birth weight with hemihypertrophy and abnormal sexual development. Independently, in 1954, Russell2 described a condition with similar findings, but his description emphasized disproportionately short arms, maternal difficulty during pregnancy, and craniofacial dysostosis. These two descriptions are now accepted as a continuum of the same entity, termed the Silver-Russell syndrome. A hallmark of the syndrome is its extreme clinical diversity. The findings most commonly seen in children with Silver-Russell syndrome are summarized in the Table.3

Recently, we encountered multiple cafe-au-lait spots, primary hypoparathyroidism, congenital glaucoma, congenital heart disease, and glucose-6-phosphate dehydrogenase deficiency in a newborn black girl with severe intrauterine growth retardation.

Submitted on August 9, 1985
Accepted on April 9, 1986




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