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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors presented a case of the Williams and Beuren's syndrome, special by the existence of aorta coarctation, high blood pressure, nephrotic syndrome and renal dysplasia. The Williams-Beuren's syndrome is characterised by the association of facial anomalies, mental retardation and supra-valvular aortic stenosis. The case presented in this study demonstrates: -- the symptomatic diversity of the Williams and Beuren's syndrome; -- and the relationship of this syndrome and severe idiopathic hypercalcemia of the infant. The etiopathogenesis is also discussed.
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PMID:[Williams and Beuren's syndrome with hypertension and associated renal abnormalities (author's transl)]. 22 86

Two siblings, a 17 year-old female and a 15 year-old boy, with a hitherto unidentified malformation syndrome are reported. Both presented with corneal clouding, subvalvular aortic stenosis, midfacial hypoplasia, skeletal anomalies, and a variable degree of growth- and mental retardation.
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PMID:Corneal clouding, subvalvular aortic stenosis, and midfacial hypoplasia associated with mental deficiency and growth retardation--a new syndrome? 57 3

A poorly developed female infant with buphthalmia, Turner phenotype, and mental retardation is described. Blood culture revealed a 45,X/47,XY,+18 chromosomal mosaicism; fibroblast culture showed only 45,X cells. The baby was dead at 11 months. Post mortem examination exhibited an ovarian agenesis and a calcified aortic stenosis.
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PMID:Mosaic 45,x/47,xy,+18. 85 77

The incidence of cytoplasmic metachromasia has been studied in cultures of skin fibroblasts derived from 6 cases of the syndrome of supravalvular aortic stenosis, characteristic facies, and mental retardation which in many instances represents the late normocalcaemic stage of the severe form of infantile hypercalcaemia. The percentage of metachromatic cells (mean positivity 7.3%) was significantly higher than in control cultures. The addition of vitamin D2 and calcium to culture media caused a highly significant increase in metachromatic cells (mean positivity in supplemented media 16.1%) compared with a lesser increase in controls. These findings strengthen previous suggestions that there is a genetically determined hypersensitivity to vitamin D in some cases of the syndrome. A multifactorial aetiology is proposed, dependent on a variable genetic susceptibility of fetal connective tissues to a non-physiological effect of D vitamins and a variable level of maternal vitamin D nutrition.
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PMID:Supravalvular aortic stenosis-infantile hypercalcaemia syndrome: in vitro hypersensitivity to vitamin D2 and calcium. 93 23

The elfin facies syndrome is characterized by idiopathic infantile hypercalcemia; mental retardation; cardiovascular anomalies, usually supravalvular aortic stenosis and peripheral pulmonary artery stenosis; a peculiar elfin facies and oral anomalies, primarily enamel hypoplasia and oligodontia. The dental features found in the three cases reported include enamel hypoplasia, severe dental decay, oligodontia, pulp stones, microdontia, and abnormally small roots. Some consistent cephalometric abnormalities were thought to contribute to the unusual facial appearance of these patients.
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PMID:The elfin facies syndrome. 105 47

Five cases of supravalvular aortic stenosis (SAS) diagnosed by heart catheterization were studied in the Instituto Nacional de Cardiologia of Mexico. The clinic and laboratory data of interest of the differential diagnosis with other forms of obstruction of the left ventricle as follows: 1. Three cases had mental retardation and "elfin" face (SAS with specific psychophysical syndrome), the rest had a normal psyco-physical state without family antecedents (sporadic SAS). 2. The aortic focus was the epicenter of the expulsion murmur. In the phoncarodiographic study, two patients had protosistolic click and another had, in addition, a descending protodiastolic murmur (Int. I-IV). In the radial sphigmograms, one case had an amplitude difference in favor of the right side. 3. All had serum calcium figures within normal limits. 4. A chromosomatic analysis of preperipheral blood was performed on two patients, with normal results. 5. In the electrocardiogram, one case had right ventricular enlargement secondary to pulmonary arterial hypertension, due to stenosis of the main pulmonary arteries. 6. The radiologic study did not show dilatation of the ascending aorta and aortic bud in any case. 7. The angiocardiography showed: stenosis directly above the Valsalva sinuses; absence of dilatation or hypoplasia of the aorta above the stenosis; and the coronary network, indirectly opaqued, showed no abnormalities. One case had aortic coarctation and abnormal implantation of the right sublaviar artery, and another, stenosis of the right and left branch of its origen of the truncus of the pulmonary artery. The literature up to the present is reviewed and an anatomo-functional classification is proposed with the objective of including new varieties.
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PMID:[Supravalvular aortic stenosis. Report of clinical findings in 5 patients]. 113 53

A 9-year-old girl with the supravalvar aortic stenosis syndrome is presented. In addition to the classical features of the syndrome, namely supravalvar aortic stenosis, peripheral pulmonary stenosis, typical facies, and mental retardation, she was also found to have stenosis at the origin of all aortic arch main branches, a hitherto undescribed feature.
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PMID:Supravalvar aortic stenosis syndrome with stenosis of all aortic arch branches. 117 35

There are few published reports of adults with Williams syndrome (WS). We have evaluated ten adult WS patients. The patients in our study were very variable in clinical presentation, ranging from severely affected patients with complicated medical histories to mildly affected patients who are generally in good health. Cardiovascular anomalies and hypertension were frequent. Supravalvular aortic stenosis was seen in four patients, mitral valve prolapse in three, bicuspid aortic valve in one, valvular aortic stenosis in one, and pulmonary stenosis with right ventricular hypertrophy in one. Typical facial features included stellate irides, prominent cheeks, full lips, and micrognathia. Mental retardation was seen in all patients. Verbal skills were better developed than motor skills. All patients in our study lead active lives, and most are involved in sports. Some hold supervised jobs. Eight of our patients live with their parents and two in group homes. Independent living is restricted by their mental and adaptive limitations.
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PMID:Williams syndrome in adults. 148 39

The Authors describe a case of William-Beuren Syndrome, also know as "Fanconi-Schlesinger Syndrome" or "Idiopathic Hypercalcaemia, supravalvular aortic stenosis, elfin facies syndrome". Irritability and chronic constipation are early features. Hypercalcaemia may occur in infancy but rarely after 1 year age. The facies is characteristic. Supravalvular aortic stenosis is the most frequent cardiac abnormality. Other common features are short stature, mental retardation and significant behavioural disorders. In this case report typical facies, short stature, behavioural disorders are associated with epilepsy in early years of life. Hypercalcaemia or cardiovascular malformation were not found.
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PMID:[William-Beuren syndrome: description of a case]. 178 14

Two male black patients, 18 and 12-year-old, with mental retardation and typical elfin face, presented with severe supravalvular aortic stenosis, thus characterizing Williams's or aortic supravalvular stenosis syndrome. Both were submitted to surgical treatment of the stenosis, and are asymptomatic after a one and four years follow-up. For the first time this syndrome, in its classical form, is described in black patients.
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PMID:[Supravalvular aortic stenosis in two black patients]. 182 30


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