Severe Type of Infantile Hypercalcaemia

Schlesinger, Benno; Butler, N. R.; Black, John

doi:10.1136/bmj.1.4959.127

Cited by 89 publications

(19 citation statements)

References 7 publications

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“…In 1956, Schlesinger 19 published the first photographs of patients with WS, in a report describing the association of unusual facies and infantile hypercalcemia. A few years later, Williams 20 described the association of supravalvular aortic stenosis with similar unusual facies, mental retardation, and clinical signs of valvular cardiac disease.…”

Section: Discussionmentioning

confidence: 98%

Severe Infantile Hypercalcemia Associated With Williams Syndrome Successfully Treated With Intravenously Administered Pamidronate

et al. 2004

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Infantile hypercalcemia occurs in approximately 15% of children with Williams syndrome (WS) and is typically not clinically severe. We report on 3 children with WS (confirmed with fluorescent in situ hybridization probes) who presented with severe symptomatic hypercalcemia. The first patient's severe hypercalcemia resolved with traditional therapies, whereas the subsequent 2 patients were treated with intravenously administered pamidronate after traditional measures proved only partially successful. Besides asymptomatic mild hypocalcemia, there were no complications resulting from pamidronate administration. We conclude that WS-associated hypercalcemia can be quite severe and symptomatic and that it can be successfully and safely treated with intravenously administered bisphosphonate in some cases.

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Section: Discussionmentioning

confidence: 98%

Severe Infantile Hypercalcemia Associated With Williams Syndrome Successfully Treated With Intravenously Administered Pamidronate

et al. 2004

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“…Among conditions that are particularly vulnerable to pyelonephritis are renal malformations (Camp-bell, 1951), tubular defects (Russell and Barrie, 1936), hypercalcaemia (Schlesinger, Butler, and Black, 1956), acute glomerulonephritis (Kassirer and Schwartz, 1961), and potassium deficiency (Milne, Muehrcke, and Heard, 1957). Any kidney that is damaged by the effects of hypertension will also have a similar predisposition.…”

Section: Discussionmentioning

confidence: 99%

Severe hypertension in childhood.

Still¹,

Cottom²

1967

Archives of Disease in Childhood

194

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“…The Wrst pictures of patients with WBS were likely reported in 1956 by Dr. Schlesinger in a paper describing the association of unusual facies and infantile hypercalcemia (Schlesinger et al 1956). Dr. Williams was the Wrst to recognize WBS as a distinct clinical entity in 1961 (Williams et al 1961) and shortly thereafter, Dr. Beuren reported four more WBS patients (Beuren et al 1962).…”

Section: Q1123 Deletion Syndrome: Clinical Wndingsmentioning

confidence: 95%

Copy number variants at Williams–Beuren syndrome 7q11.23 region

et al. 2010

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Copy number variants (CNVs) of the Williams-Beuren syndrome (WBS) 7q11.23 region are responsible for neurodevelopmental disorders with multi-system involvement and variable expressivity. Typical features of WBS microdeletion comprise a recognizable pattern of facial dysmorphisms, supravalvular aortic stenosis, connective tissue abnormalities, hypercalcemia, and a distinctive neurobehavioral phenotype. Conversely, the phenotype of patients carrying the 7q11.23 reciprocal duplications includes less distinctive facial dysmorphisms and prominent speech delay. The common deletion/duplication ranges in size from 1.5 to 1.8 Mb and encompasses approximately 28 genes. This region is flanked by low copy repeats (LCRs) with greater than ~97% identity, which can mediate non-allelic homologous recombination resulting from misalignment of LCRs during meiosis. A clear genotype-phenotype correlation has been established in WBS only for the elastin gene, which is responsible for the vascular and connective tissue abnormalities. The molecular substrates underlying the other clinical features of 7q11.23 CNVs, including the neurocognitive phenotypes, are still debated. Recent studies suggest that besides the role of the genes in the deleted/duplicated interval, multiple factors such as regulatory sequences, epigenetic mechanisms, parental origin of the CNV, and nucleotide variations in the non-deleted/duplicated allele may be important in determining the variable expressivity of 7q11.23 CNV phenotypes. Here, we review the clinical and molecular findings and the recent insights on genomic disorders associated with CNVs involving the 7q11.23 region.

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Severe Type of Infantile Hypercalcaemia

Cited by 89 publications

References 7 publications

Severe Infantile Hypercalcemia Associated With Williams Syndrome Successfully Treated With Intravenously Administered Pamidronate

Severe Infantile Hypercalcemia Associated With Williams Syndrome Successfully Treated With Intravenously Administered Pamidronate

Severe hypertension in childhood.

Copy number variants at Williams–Beuren syndrome 7q11.23 region

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