Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We experienced a successful surgical case in which a 3-year-old boy with a characteristic elfin face, heart murmur, and mental retardation, underwent extended patch aortoplasty using equine pericardium for congenital supravalvular aortic stenosis. The aortography performed before operation, and demonstrated diffuse stenosis just above the aortic valve, which was a typical hour-glass type. The preoperative peak systolic pressure gradient between the left ventricle and ascending aorta was 120 mmHg, and was improved postoperatively. In this procedure only one cusp was incised, resulting in no deformity of the aortic valve and no obstruction of coronary arteries. In conclusion this method was excellent for the diffuse type of supravalvular aortic stenosis.
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PMID:[A successful surgical case of supravalvular aortic stenosis with Williams syndrome: the investigations of the procedures]. 796 65

We report one case of WS, who came at our first observation at age of eight for mental retardation and congenial cardiopathy of unknown origin. Echocardiography and Doppler examination showed immediately isthmic aortic stenosis, and therefore aortic plastic surgery was performed, with a good post-operative result. The case aroused the interest of the Authors, owing to the late diagnosis of aortic coarctation, which, however, did not produce hemodynamic alteration.
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PMID:[Williams syndrome. Considerations on an unusual case]. 802 98

Two female cases, 23- and 21-year-old, of supravalvular aortic stenosis associated with cerebellar hypoplasia, retinitis pigmentosa and myopathy were reported. No family history of mental retardation and cardiovascular anomalies was found. There was no consanguinity between the parents. Pregnancy, labor and delivery were reported to be uncomplicated. When they visited to our hospital at the age of 13 and 11 years, they had short stature, characteristic facial appearance (eg, wide mouth, elongated philtrum, low nasal bridge and broad forehead) and supravalvular aortic stenosis. Neurological examination disclosed mental retardation, retinitis pigmentosa, muscle wasting and contracture of bilateral knee and ankle joints. Gait was unsteady and bradykinetic. Their smooth pursuiting ocular movements were saccadic. No nystagmus was recorded. Mild intention tremor was present. The muscles were slightly hypotonic, but deep tendon reflexes were hyperactive in the lower extremities. The sensory system was normal. Results of chromosome analysis and urine amino acid analysis were normal. The serum creatine kinase was elevated to 1,000-3,000 U. Muscle biopsy revealed nonspecific myopathic changes such as variability of fiber diameter in both fiber types. Neither cell infiltration nor deposits of fat or glycogen was found. Cranial MRIs performed at the age of 22 and 20 years disclosed cerebellar hypoplasia and moderate enlargement of the fourth ventricle. The two cases resembled clinically those of Williams syndrome, but the MRI findings were not consistent with those of the syndrome. The disorder is considered to be either Williams syndrome complicated by some other relatively rare clinical features, or another heredofamilial disease partly resembling Williams syndrome.
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PMID:[Myopathy, cerebellar ataxia and Williams syndrome like features in siblings]. 819 69

The developmental anomalies of dental hard tissues are relatively common in children. These anomalies can involve separately the enamel and they are due to many factors acting during odontogenesis. The paper deals with the main ethological factors and describes a case of idiopathic hypercalcemia. It is normally accompanied by aortic stenosis, mental retardation and a characteristic elfin face. This is called Williams syndrome. In this case we only found enamel hypoplasia on the cusps of the first molars.
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PMID:[Dental enamel hypoplasia apropos of a case]. 862 Sep 79

Williams syndrome (WS) is characterized by distinct facial changes, growth deficiency, mental retardation, and congenital heart defect (particularly supravalvular aortic stenosis), associated at times with infantile hypercalcemia. Molecular genetic studies have indicated that hemizygosity at the elastin locus (7q11.23) causes WS. The purpose of this study was to confirm that this regional deletion, involving the elastin locus, is the cause of WS in Japan, and to clarify the correlation between the phenotype and the elastin locus. Thirty-two patients with WS and thirty of their relatives were examined by fluorescent in situ hybridization (FISH), using the WS chromosome region (WSCR) probe. All patients had cardiovascular disease (100%), 30 had typical WS facial changes (94%), 31 had mental retardation or developmental delay (97%), 16 were small-for-date at birth (50%), 14 had short stature (44%), and 13 had dental anomalies (41%). No relatives showed any manifestation of WS. Hemizygosity for a region of 7q11.23, involving the elastin locus, was found in all WS patients, but was not found in the 30 relatives.
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PMID:Molecular cytogenetic diagnosis of Williams syndrome. 886 24

Williams syndrome (WS) is associated with a submicroscopic deletion of the elastin gene (ELN) at 7q11.23. The deletion encompasses closely linked DNA markers. We have investigated 44 patients referred for possible WS using fluorescence in situ hybridization (FISH) analysis with a P1 clone containing an insert from the ELN, as well as performing genotype analysis of patients and parents with four DNA polymorphisms. Twenty-four patients were found to have deletions, 19 of whom were found clinically to have typical WS. The facial features were especially characteristic. None of the patients without detectable deletions was reported to have typical WS features, although one had supravalvular aortic stenosis, hypercalcemia, and mental retardation. No evidence was found in this material for variability of the size of the deletion. Our study supports the usefulness of analysis of ELN deletion in WS patients, both for confirmation of diagnosis and for genetic counselling.
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PMID:Investigation of deletions at 7q11.23 in 44 patients referred for Williams-Beuren syndrome, using FISH and four DNA polymorphisms. 900 95

A 4 year old patient with congenital rubella syndrome, confirmed serologically, presents with neurosensorial deafness and a rare association of cardiac anomalies: supravalvar and valvar aortic stenosis and subvalvar pulmonary stenosis. Bidimensional echocardiography and angiography confirmed the diagnosis and the surgical treatment was successful. Due to the presence of somatic characteristics of Williams's syndrome, mental retardation and supraortic stenosis, the authors postulate that there is a coexistence of clinical syndromes responsible for the malformations of this case. This fact is rare on clinical settings, requiring accurate diagnosis and treatment.
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PMID:[Supravalvar and valvar aortic stenosis associated with valvar and subvalvar pulmonary stenosis. Coexistence of two clinical syndromes]. 900 12

Williams syndrome is a congenital disorder characterized by mental retardation, vascular abnormalities including supravalvular aortic stenosis, and a loquacious personality. The genetic etiology of this syndrome has recently been isolated to the seventh chromosome, namely the elastin gene. Initial diagnosis of Williams syndrome rests largely with practitioners who see children in the first two years of a child's life, and the health and longevity of individuals with the disorder may depend heavily on accurate and timely diagnosis. Although often diagnosed in childhood, the adolescent and adult with Williams syndrome may also benefit from the diagnostic skills of an alert physician.
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PMID:Williams syndrome: a guide to diagnosis and treatment. 907 61

We report a male case of supravalvular aortic stenosis associated with Williams syndrome requiring surgery at age 11. At 5 years of age, this boy presented with a harsh systolic heart murmur and was diagnosed as having a supravalvular aortic stenosis. In association with mental retardation, elfin face and bilateral inguinal hernias, he was diagnosed as a Williams syndrome confirmed by the chromosomal analysis revealing the deletion of 7q11.23. The pressure gradient across the stenotic lesion of the ascending aorta, which had been 35 mmHg at age 5, progressed to 80 mmHg at age 11 years. Extended aortoplasty was performed using a patch of 20 mm Hemashield graft prosthesis. Postoperative cardiac catheterization confirmed that the pressure gradient in the ascending aorta completely disappeared following surgery.
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PMID:[Extended aortoplasty for supravalvular aortic stenosis with Williams syndrome]. 915 32

To settle long-term outcome after surgery for supravalvular aortic stenosis in the Williams-Beuren syndrome, we reviewed the records of 6 patients who had repair of the localized form (n = 5) or diffuse form (n = 1) at our Institution from 1965 to 1971. Four patients were females and 2 males, ages at operation ranged from 9 to 16 years (mean = 13 +/- 2.37 years). In all the patients was present the typical elfin facies with mental retardation and reduced I.Q. Preoperative omeral pressure was different between left and right arm (89 +/- 7/67 +/- 8 vs 105 +/- 8/77 +/- 4). Chest X-ray showed and enlargement of the cardia silhouette in all the patients. Cardiac catheterization, performed in all the patients, allowed diagnosis of supravalvular aortic stenosis and, in one case of subaortic stenosis associated. Intraoperatively a coronary tree enlargement was found in all cases with particular involvement of the right coronary in two patients. The mean diameter of the ascending aorta was 5.67 +/- 1.97 mm but the smallest (3 mm) was in the diffuse group. In group with localized stenosis the aortic root was enlarged with a teardrop patch in Dacron (n = 4) or a simple transverse suture after a longitudinal incision (n = 1). A pantaloon-shaped patch was necessary in the diffuse form case. There were no operative deaths and all the patients were discharged from the hospital after 2 weeks. A clinical follow-up was possible in all the patients (10%) extended from 25 to 30 years (mean = 27.7 +/- 2.19 years); there were no late deaths and at presents time the mean age of the patient is 40 +/- 3 years. All patients were in functional class I or II. There was no significant difference between patients with a teardrop-shaped or pantaloon-shaped patch in terms of late gradient, survival, or aortic insufficiency studied by Echocardiography and color-Doppler. Of six patients two are living with parents or relatives but four are in a farm-college for disable people working and having some responsibility. We conclude that surgery for the correction of supravalvular aortic stenosis in Williams-Beuren syndrome is mandatory and both the procedures with patch techniques provide excellent long-term results of gradients and aortic valve competence. Moreover the patients after the operation can have a normal activity with a satisfactory style and expectation of life.
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PMID:Williams-Beuren syndrome. Long-term results of surgical treatments in six patients. 920 Nov 21


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