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Images in Clinical Practice Indian Pediatrics 2001; 38: 1427 |
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William’s Syndrome |
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This 7-year-old microcephalic female child presented with congestive cardiac failure. She was short statured and had facial dysmorphism in the form of broad forehead, flat face, hypertelorism, depressed nasal bridge, low set and posteriorly rotated ears (Figs. 1 and 2). The teetch were hypoplastic with caries. She had developmental delay and scholastic backwardness but was cheerful and talkative. The carotids were unequal with a thrill and on auscultation an ejection systolic murmur of grade 5/6 was heard in 2nd and 3rd left parasternal space. The 2-dimensional echocardiography revealed supravalvular aortic stenosis. Williams et al. in 1961 described this syndrome in children with mental retardation, an unusual facies and supravalvular aortic stenosis for the first time. This cardiac anomaly is the most frequent of cardiovascular anomalies that can occur in these children. The facies are "elfin like" with full cheeks, broad forehead, flat faces, hypertelorism, depressed nasal bridge, low set and posteriorly rotated ears. These children require frequent blood pressure and renal function monitoring. Hypercalcemia has been an infrequent finding, particularly beyond the neonatal period. An autosomal dominant mode of inheritance has been proposed. However it usually occurs as a sporadic new dominant condition. These patients may have microdeletion on chromosome 7 detected by fluorescent in situ hybridization.
Archana B Patel,
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