A patient with Silver-Russell syndrome and several unusual findings has been described. This is the first reported case of primary hypoparathyroidism in Silver-Russell syndrome, and the potential for this endocrine disorder in this syndrome should be recognized. This is also the first reported case of pulmonary artery hypoplasia with nonelastic fibrotic hypertrophy of the endocardium. Patients with Silver-Russell syndrome should be carefully evaluated clinically for heart disease. If soft murmurs are auscultated or if sphygmomanometry shows unusually wide pulse pressure, further workup should be considered. Echocardiography will demonstrate most lesions, and if cardiac catheterization is indicated, endocardial biopsy should be considered. Silver-Russell syndrome should be considered in the differential diagnosis of an infant with unexplained intrauterine growth retardation. The clinician should be aware that the syndrome has multiple and variable findings, including cafe au lait spots which may be multiple, and that asymmetry may be absent.
|Original language||English (US)|
|Number of pages||4|
|Publication status||Published - Jan 1 1987|
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health