Silver-Russell Syndrome With Unusual Findings

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.