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)

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

Cardiovascular anomalies have been studied in 13 subjects (8 males and 5 females, average age 15 +/- 7 years) affected from fragile X syndrome. This group has been examined by standard-ECG, Holter-ECG, echocardiography (M-mode, B-mode, Doppler and color-Doppler). The results have been compared with a control group of 39 subjects (20 males and 19 females, average age 15 +/- 5 years), with non genetic mental retardation. Clinical examination, ECG and Holter did not show any significant pathological alteration compared with the results of the control group. In the study group echocardiography showed the following results: 10 subjects (77%) had mitral valve prolapse of the anterior leaflet (arching); 4 of which (31%) with associated posterior leaflet prolapse; 2 subjects (15%) with posterior aortic leaflet prolapse; 2 subjects (15%) with tricuspid septal leaflet prolapse; 3 subjects (23%) had mild pulmonary artery dilatation; 1 subject (8%) had a mild aortic regurgitation; in 9 subjects (69%), 3 of whom with pulmonary artery dilatation, has been found pulmonary valve regurgitation; 10 subjects (77%) had tricuspid valve regurgitation. In all subjects cardiac dimensions were within the normal range. The most important result, in accordance with literature, is the high prevalence of mitral valve prolapse. The prolapse is asymptomatic and silent. We have never found aortic root dilatation that was described by other Authors. The described anomalies could be ascribed at the dysfunction of the connective tissue. This theory has been confirmed by necropsy studies. Therefore, we suppose that these alterations, particularly the anterior mitral leaflet prolapse, are non casually associated with the fragile X syndrome.
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PMID:[Cardiovascular aspects of Martin-Bell syndrome]. 209 33

The fragile X syndrome include clinical features macroorchidism, ear large, prognathism, elongated facies, speech dysfunction, mental retardation and mitral valve prolapse. The interest for this syndrome is linked to the antibiotic prophylaxis for bacterial secondary endocarditis and bacteremia.
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PMID:[Fragile X syndrome]. 215 5

A case report of an 11-year-old Caucasian boy with the fragile X syndrome is presented. The fragile X syndrome is a form of X-linked mental retardation with a connective tissue component that involves mitral valve prolapse. Antibiotic prophylaxis, electrocardiographic abnormalities, and special anesthetic management considerations are elements of treating patients with fragile X syndrome. The patient received morphine sulfate and scopolamine as a preoperative premedication. Ketamine was also administered intramuscularly prior to induction to gaseous anesthetic. Pancuronium was used to facilitate nasotracheal intubation. A wandering atrial pacemaker and progressive hypocapnia, both of which were managed without complication, were the only problems encountered in the anesthetic procedure.
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PMID:General anesthesia and fragile X syndrome: report of a case. 293 7

This case-control study was designed to determine whether aortic regurgitation (AR) and mitral valve prolapse (MVP) are specifically associated with Down's syndrome, or occur in a comparably retarded population without Down's syndrome. The 92 control subjects resided at the same institution as the 131 cases, and had mental retardation attributable to low birth weight or perinatal asphyxia. Mean (+/- SD) ages of the cases and the control group were 41 +/- 11 years compared with 40 +/- 13 years, respectively. The relative risk of AR among the cases (those with Down's syndrome) was 2.9 (95% confidence interval, 0.65-13.2; P = 0.16) and that of MVP was 3.5 (95% confidence interval, 1.2-10.2; P = 0.02). The results showed that these two valvular abnormalities are specifically associated with Down's syndrome in adults.
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PMID:Aortic regurgitation and mitral valve prolapse with Down's syndrome: a case-control study. 297 37

A patient had a parathyroid adenoma and prolactin-secreting pituitary tumor, suggestive of the multiple endocrine neoplasia (MEN) I syndrome. The presence of a marfanoid habitus--found more typically in MEN III syndrome--as well as mitral valve prolapse, mental retardation, and bilateral optic atrophy suggests a new variant of the MEN syndrome, possibly representing widespread dysplasia of endocrine and other tissues.
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PMID:Multiple endocrine neoplasia, type I. Association with marfanoid habitus, optic atrophy, and other abnormalities. 613 88

The fact that a connective tissue dysplasia is a component of the Martin-Bell syndrome was a fortuitous discovery. A 26-month-old developmentally delayed boy had many signs of a connective tissue dysplasia for which he was referred to a University center where he was found to be fragile (X)-positive without confirmation of a connective tissue problem. Sensitized by these events and observations, we were able to predict at a glance in an unrelated family the fragile (X)-positive status of 2 subsequently referred brothers with mental retardation and prominent manifestations of connective tissue dysplasia. Thus, the Martin-Bell syndrome is an incompletely recessive, pleiotropic trait involving CNS, testes and connective tissues. The characteristic facial appearance of affected males largely represents interaction of mental retardation, congenital CNS based muscle hypotonia and connective tissue dysplasia. At the 1983 NIH workshop on XLMR there was a general consensus that a connective tissue dysplasia is a component of the Martin-Bell syndrome, a fact since confirmed by others on the basis of objective measurements of finger joint hypermobility and frequent presence of mitral valve prolapse.
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PMID:Discovery of a connective tissue dysplasia in the Martin-Bell syndrome. 671 89

A 42-year-old symptomatic woman with possible adult Williams's syndrome (mental retardation, 'elfin facies' and supravalvular aortic stenosis (SVAS)) is documented. This patient displayed many unique features in addition to the severe SVAS (peak systolic gradient 96 mmHg): there was an associated persistent left superior vena cava draining into the coronary sinus, mitral valve prolapse (Barlow's syndrome) and complete right bundle-branch block on ECG. Peripheral pulmonary artery stenosis was absent. M-mode echocardiograhy in the adult with SVAS is described for the first time in the literature, as is the use of the 60 degrees cross-sectional scan. Both these non-invasive procedures proved of value in the diagnosis. The degree of subendocardial ischaemia, as determined by the 'endocardial viability ratio', was calculated and the possible mechanisms producing angina pectoris with 'coronary artery hypertension' in this condition are discussed. The literature on associated mitral valve abnormalities in SVAS is reviewed. A successful surgical result was obtained; the various forms of operation are outlined.
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PMID:Supravalvular aortic stenosis in the adult. A case presentation with unique associated features. 701 31

The case of a 23 years old woman, affected by the Cohen syndrome, who underwent general anesthesia for extensive dental surgery, is reported. The Cohen syndrome is an autosomal recessive syndrome that causes mental retardation, obesity, short stature as well as oral, ocular, and limb anomalies. The problems the anesthesiologist could deal with include the capacity of the patient to cooperate; difficult intubation because of maxillary hypoplasia, micrognathia, narrow and high-arched palate, and prominent maxillary central incisors; generalized muscular hypotonia; moderate leukopenia, that could theoretically increase the risk of infection: and, finally, possible associated mitral valve prolapse or hiatus hernia. In the case reported the presence of mitral valve prolapse or hiatus hernia was ruled out echographically. The patient was premedicated with diazepam and atropine i.m.; general anesthesia was carried out by propofol-fentanyl association and myorelaxation was obtained with atracurium. Nasotracheal intubation was performed easily in spite of oral anomalies so that the usefulness of thyromental distance, which was 7 cm long, as a clinical test to evaluate a potentially difficult intubation was confirmed. Noteworthy, the thyromental distance was the only test which was suitable for the uncooperative patient. At the end of surgery muscular tone recovered promptly and the endotracheal tube could be regularly removed. No complication was registered postoperatively.
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PMID:[General anesthesia in Cohen syndrome. Report of a clinical case]. 767 74

In Down's syndrome (DS) mental retardation accompanying chromosomal abnormalities is seen, and the incidence of associated congenital heart abnormalities is also known to recent years, the accelerated aging and premature senility associated with DS have attracted attention. In the present study, we examined cardiac lesions using echocardiography in a group of asymptomatic adult DS subjects discussed the relation between these lesions and premature aging. The subjects comprised 28 adult DS patients ranging in age from 20 to 46 years (mean +/- SD, 30.8 +/- 8.9 years) residing in 8 institutions in Fukui prefecture. The presence of DS was confirmed in all cases by chromosomal examination, which revealed 21-trisomy in 25 and mosaic type in three. Of indices of left heart function, the end diastolic volume index (EDVI) and end systolic volume index (ESVI) showed significantly reduced values, whereas indices of systolic function such as the ejection fraction (EF) and mean velocity of circumferential fiber shortening (mean Vcf) showed significantly elevated values. The results of early diastolic left ventricular function, which has been noted to be related to aging, did not show any significant difference as determined by observation of mitral valve dynamics. On the other hand, morphologically, mitral valve prolapse (MVP) was found significantly more frequently in the DS group (17.9%) as compared to a normal control group. Also, valvular calcification (14.3%) and aortic valve regurgitation (AR, 11%) were both frequently noted. Whether signs such as valvular calcification are findings related to accelerated aging will require further study.
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PMID:[Echocardiographic study in adult patients with Down's syndrome]. 836 Oct 52


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