elastin and Nephrocalcinosis

elastin has been researched along with Nephrocalcinosis* in 1 studies

Other Studies

1 other study(ies) available for elastin and Nephrocalcinosis

ArticleYear
Williams-Beuren syndrome associated with single kidney and nephrocalcinosis: a case report.
    The Pan African medical journal, 2015, Volume: 22

    Williams-Beuren syndrome is a rare neurodevelopmental disorder, characterized by congenital heart defects, abnormal facial features, mental retardation with specific cognitive and behavioral profile, growth hormone deficiency, renal and skeletal anomalies, inguinal hernia, infantile hypercalcaemia. We report a case with Williams-Beuren syndrome associated with a single kidney and nephrocalcinosis complicated by hypercalcaemia. A male infant, aged 20 months presented growth retardation associated with a psychomotor impairment, dysmorphic features and nephrocalcinosis. He had also hypercalciuria and hypercalcemia. Echocardiography was normal. DMSA renal scintigraphy showed a single functioning kidney. The FISH generated one ELN signal in 20 metaphases read and found the presence of ELN deletion, with compatible Williams-Beuren syndrome.

    Topics: Elastin; Hernia, Inguinal; Humans; Hypercalcemia; Infant; Kidney; Male; Nephrocalcinosis; Williams Syndrome

2015