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Query: UMLS:C0020437 (hypercalcemia)
 10,293 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Neonatal hypercalcemia is a rare condition often of unclear pathogenesis. If unrecognized and untreated it may result in central nervous system and renal damage. We studied three infants with symptomatic neonatal hypercalcemia pointing out pathogenetic and therapeutic aspects. One infant was found to have transient hyperparathyroidism with high intact parathyroid hormone (iPTH) levels. One infant had an incomplete form of Williams syndrome with hypercalcemia and an elfin facies. The pathogenesis is unclear in this case. A reduced secretion of calcitonin or an hypersensitivity to vitamin D might be the underlying defect. The third case was found to have subcutaneous fat necrosis and hypercalcemia associated with high 1,25(OH)2D levels and suppressed iPTH levels. These findings suggest an unregulated extrarenal 1,25(OH)2D production. These infants were treated with hydratation, furosemide, corticosteroids and low calcium diet. Symptomatic neonatal hypercalcemia should be treated promptly. However blood has to be taken before starting treatment to study calcium-regulating hormones and clarify pathogenesis.
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PMID:Symptomatic hypercalcemia in the first months of life: calcium-regulating hormones and treatment. 1040 8

Williams-Beuren syndrome (WBS) results from a deletion of 7q11.23 in 90-95% of all clinically typical cases. Clinical manifestation can be variable and therefore, deletion size, inherited elastin (ELN) and LIM kinase 1 (LIMK1) alleles, gender, and parental origin of deletion have been investigated for associations with clinical outcome. In an analysis of 85 confirmed deletion cases, no statistically significant associations were found after Bonferroni's correction for multiple pairwise comparisons. Furthermore, the present data do not support presence of imprinted genes in the WBS common deletion despite a nonsignificant excess of maternal over paternal deletions. Maternal deletion cases were more likely to have a large head circumference in the present data. Also, pairwise comparisons between individual WBS clinical features have been conducted and revealed significant associations between (1) low birth weight and poor postnatal weight gain (<10th percentile at the time of examination) and (2) transient infantile hypercalcemia and a stellate iris pattern. The latter association could indicate a common underlying etiology.
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PMID:Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome. 1044 Aug 26

Hypercalcemia in infants is uncommon but has potentially serious sequelae. This review examines four cases of neonatal hypercalcemia, emphasizing appropriate investigations and treatment of acute and chronic hypercalcemia. The paper provides additional information as to the mechanisms of calcium dysregulation in idiopathic infantile hypercalcemia, Williams syndrome, vitamin D intoxication, and parathyroid and parathyroid-related protein disturbances.
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PMID:Hypercalcemia of the newborn: etiology, evaluation, and management. 1077 85

Idiopathic infantile hypercalcemia (IIH) is a rare cause of hypercalcemia in the 1st year of life and was initially considered part of a spectrum encompassing vitamin D intoxication, Williams syndrome, and idiopathic hypercalcemia. Identification of the gene for Williams syndrome now allows a clear separation of IIH from Williams syndrome. The inheritance and pathogenesis of IIH remains largely unknown, with only sporadic cases reported to date. This report describes a family with two siblings with IIH. The pedigree is consistent with autosomal recessive inheritance, but more complex inheritance is suggested by the occurrence of hypercalciuria in a number of family members. Although one affected patient demonstrated elevated 1,25-dihydroxyvitamin D(3) levels, no conclusions regarding the pathogenesis of this condition could be drawn.
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PMID:Familial occurrence of idiopathic infantile hypercalcemia. 1050 24

Calcium homeostasis is altered in patients with Williams syndrome. We report an infant in whom Williams syndrome was diagnosed at 4 weeks who presented with hypercalcemia, hypercalciuria, and medullary nephrocalcinosis. Fluorescence in situ hybridization demonstrated a deletion of the elastin gene on chromosome 7. This infant was treated with a low-calcium/vitamin D-deficient infant formula that resulted in the development of rickets. Replacement of the low-calcium/vitamin D-deficient formula with standard formula led to resolution of the rickets.
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PMID:Rickets in an infant with Williams syndrome. 1087 91

Williams syndrome, due to a contiguous gene deletion at 7q11.23, is associated with a distinctive facial appearance, cardiac abnormalities, infantile hypercalcemia, and growth and developmental retardation. The deletion is approximately 1.5Mb and includes approximately 17 genes. Large repeats containing genes and pseudogenes flank the deletion breakpoints, and the mutation mechanism commonly appears to be unequal meiotic recombination. Elastin hemizygosity is associated with supravalvular aortic stenosis and other vascular stenoses. LIM Kinase 1 hemizygosity may contribute to the characteristic cognitive profile. The relationship of the other deleted genes to phenotypic features is not known. People with Williams syndrome tend to be over friendly-though anxious-and lack social judgement skills. They exhibit an uneven cognitive-linguistic profile together with mild to severe mental retardation. Analysis of the cognitive phenotype based on analyses of the mental processes underlying overt behavior demonstrates major differences between normal and WS subjects although for some areas, such as face processing, WS subjects can achieve near normal scores. Cognitive analysis of patients with small deletions in 7q11.23 which include elastin and LIM Kinase 1 have revealed varying results and it is premature to draw genotype-phenotype correlations.
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PMID:Williams syndrome: from genotype through to the cognitive phenotype. 1118 Feb 24

Cleft lip or palate has not been reported in the medical literature as a part of Williams' syndrome. We present a patient who had cleft palate among other congenital manifestations. This patient's immediate postnatal period clinically seemed to have a Pierre Robin sequence. With the development of the craniofacial complex, microgenia and micrognathia with glossoptosis gradually became apparent. On further assessment, the patient showed other clinical findings that suggested a syndromic association. This required a complete evaluation to discard other conditions that present with low psychomotor development and distinctive facies, such as Kabuki syndrome or fetal alcohol syndrome. The diagnosis for Williams' syndrome was established based on the clinical features and supported by the fluorescent in situ hybridization test. Williams' syndrome has been described as a rare, congenital disorder characterized by physical and developmental problems. Common features include characteristic "elfin-like" facies, supravalvular aortic stenosis, hypercalcemia, low birth weight, slow weight gain, feeding problems, impulsive and outgoing personality, limited spatial skills and motor control, and intellectual disability. Although individuals with Williams' syndrome may show competence in areas such as language, music, and interpersonal relations, their IQs are usually low and they are considered moderately to mildly retarded.
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PMID:Cleft palate in a patient with Williams' syndrome. 1131 25

A characteristic facial appearance, mental retardation, growth deficiency, cardiovascular anomalies, and infantile hypercalcemia are major features of the Williams-Beuren syndrome. The dentist can contribute to the (early) diagnosis of this disorder.
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PMID:[Syndromes 5. Williams-Beuren Syndrome]. 1192 52

Among congenital defects the most common are the congenital heart defects, which constitute a heterogeneous group with a multifactor etiology. A single gene mutation has been identified in some of them, such as in of Williams's syndrome, or they can be due to teratogenic agents. The advance in diagnosis and treatment of congenital heart defects has become very important because mortality has diminished and patients live longer and better, reaching adult hood. Molecular biology offers now opportunities understand the cause of many genetic diseases thanks to molecular studies of chromosomes. Conotruncal malformations are known to be caused by a microdeletion in chromosome 22(22q11), this mutation is also responsible for the DiGeorge and cardiovelofacial syndromes, the most relevant aspects are: congenital heart disease, which is present in 75% of the cases, the leading disorder is Fallot's tetralogy with pulmonary atresia, in second place is interruption of the aortic arch type B, followed by common truncus arteriosus. These patients have other phenotypic features, such as high palate, speech problems, malimplantation of ears, and protuberant nose tip, among others. Diagnosis is made with the FISH (fluorescent in situ hybridization) test that shows a microdeletion in chromosome 22 at the 11.2 region. Another syndrome that has received great attention is the Williams-Beuren syndrome, which courses with mental retardation, hypercalcemia, characteristic facies, and supravalvular aortic and pulmonary stenosis. To day, it is known that its cause is a deletion in chromosome 7(7q11.23), which affects elastin region, in consequence, affecting the vessels.
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PMID:[Congenital cardiopathies and syndromes in adults]. 1200 67

Williams syndrome (WS) is a well-known genetic disorder with a variable phenotype. In many cases, physical manifestations are subtle and may not be apparent at an early age, making diagnosis difficult in infants and young children who lack classic manifestations such as supravalvular aortic stenosis and hypercalcemia. Clinical suspicion is essential because the diagnostic genetic finding is not detectable on routine chromosomal analysis. Furthermore, early diagnosis allows for earlier detection and treatment of developmental, behavioral, and medical problems. In an effort to understand how and why individuals with WS are diagnosed, we conducted a survey-based study of parents of WS children. Packets containing a cover letter, consent form, parental survey and preaddressed stamped envelope were distributed to parents of children with WS. The survey included questions concerning initial diagnosis, WS findings present, medical specialists involved, and tests performed. Forty-six completed surveys were returned for analysis. The mean age at diagnosis was 3.66 years (SD 4.13). The mean age at which there were initial concerns was 0.98 year (SD 1.24) resulting in a mean delay in diagnosis of 2.77 years (SD 4.10). In addition, the involvement of a geneticists correlated with earlier diagnosis (2.26 years vs. 5.09 years without geneticist involvement, p = 0.03) and fewer tests ordered (5.2 vs. 8.2 in the nongeneticist group, p = 0.0006). We observed a significant delay in the diagnosis of WS. Of note, the involvement of a geneticist was associated with earlier diagnosis and reduced number of tests.
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PMID:Delay in diagnosis of Williams syndrome. 1204 23


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