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Query: UMLS:C0917816 (mental retardation)
 15,867 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a new case of Rubinstein-Taybi syndrome with a hypoplastic right kidney, persistent pulmonary hypertension, and mitral valve regurgitation. Other pertinent features included broad thumbs, broad big toes, syndactyly of the third and fourth fingers bilaterally, beaked nose, broad columella of the nose, patent ductus arteriosus, and motor and mental retardation. The testes were descended. The 3 month old patient had delayed motor and mental development corresponding to a 1 month old infant.
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PMID:New dysmorphic features in Rubinstein-Taybi syndrome. 140

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

One hundred patients, institutionalized for mental retardation, aged between 3 and 14 years (mean age 12.2 +/- 3) and free from cardiovascular and pulmonary diseases, were studied using Doppler technique (pulsed wave-continuous wave and color-coded Doppler), to evaluate the prevalence of pulmonary regurgitation. The authors, utilizing a triple method (diastolic turbulence above pulmonary valve detected by pulsed wave Doppler or diastolic flow detected by continuous wave Doppler, presence of regurgitant pulmonary color-jet, from short axis view, toward the right ventricular outflow tract, and presence of the same feature in the color m-multigate) to detect the presence or absence of pulmonary regurgitation found 73% positivity. There were no differences between the two sexes and the size of the pulmonary artery was in the normal range. The characteristics of regurgitation were: No holodiastolic. The regurgitant max velocity jet was not greater than 1.50 m/s. Beat to beat variability. Max length of color-jet was not more than 2 cm. Rapidly decreasing Doppler profile. We can conclude that pulmonary regurgitation is very frequent in children and is not significant if it has the above-named characteristics. This latter fact is further confirmed by other authors.
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PMID:[Prevalence of pulmonary valve insufficiency in healthy children: a Doppler color study]. 326 56

The quality of life of adolescent patients with congenital heart disease (CHD) who have not undergone intracardiac repair was investigated by assessing the physical activity, complications, and the educational and occupational status of 69 patients (32 males and 37 females, average age 18 +/- 2 years) who had graduated from junior high school by April 1993. Group A consisted of 54 patients with mild CHD (small left-to-right shunt disease, mild aortic stenosis and/or regurgitation, and other CHD) who reported to have no symptoms. Group B consisted of 15 patients who complained of restrictions on physical activity associated with CHD (Eisenmenger syndrome, and CHD complicated with pulmonary atresia or severe pulmonary stenosis). All group A patients were in NYHA class I, and none had had serious complications due to CHD. Their heart condition had not been a disadvantage in terms of educational and occupational opportunities after graduation from junior high school. All group B patients in NYHA class II had reduced physical activity. Eleven patients suffered from complications associated with CHD, such as brain abscess, infective endocarditis, Down syndrome, supraventricular tachycardia, brain infarction, hemoptysis, mental retardation associated with conotruncal anomaly face syndrome, and I degree AV block without symptoms. Two remained at home after graduation from junior high school, and four after high school. Only two of 15 obtained full time jobs after graduation from high school. About half of the patients with symptomatic CHD are unable to participate actively in society since graduation from junior high or high school.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Adolescent congenital heart disease: quality of life in patients not undergoing intracardiac repair]. 793 75

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

Isolated mitral regurgitation without supravalvular aortic stenosis is rarely identified in Williams syndrome. We describe the case of a 24-year-old man with isolated mitral regurgitation in Williams syndrome. Severe regurgitation due to prolapse of the anterior leaflet was noted in an echocardiogram and color Doppler, and a left ventriculogram showed grade IV regurgitation. No pressure gradient between the left ventricle and the ascending aorta was found. Mitral regurgitation had been noted since his birth, and pediatricians suspected Williams syndrome because of postnatal growth deficiency, mental deficiency, unusual personality, and unusual facial features in his childhood. The diagnosis was confirmed by demonstration of the hemizygous deletion of 7q11.23 in the karyotype by the fluorescent in situ hybridization technique after his admission to our department. The patient underwent mitral valve replacement, and microscopic examination of the excised valve revealed myxomatous degeneration.
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PMID:Mitral regurgitation without supravalvular aortic stenosis in Williams syndrome. 1238 35

Williams syndrome is a genetic disorder associated with characteristic facies, supravalvar aortic stenosis, peripheral pulmonary stenosis, mental retardation, hypertension, premature aging of skin, and congenital cardiac defects. Many cardiac defects such as bicuspid aortic valve, mitral valve regurgitation, coarctation of the aorta, and ventricular or atrial septal defects are linked to the syndrome. Complete atrioventricular septal defect has rarely been associated with Williams syndrome and only one necropsy case has been reported in the literature. The long term follow up of Williams syndrome associated with complete atrioventricular septal defect is reported. During a 10 year follow up period, the pressure gradient in the ascending aorta did not increase despite narrowing of the ascending aorta as identified on an aortogram.
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PMID:Williams syndrome associated with complete atrioventricular septal defect. 1269 80

Cecal volvulus occurring in a child with CHARGE syndrome is presented. This boy was known to have CHARGE syndrome with multiple congenital anomalies, including coloboma, ventricular septal defect, choanal atresia, growth and mental retardation, bilateral cryptorchidism, dysplasia of the right ear, cleft lip, and hydrocephalus. Nissen's fundoplication had been previously performed for severe hiatal hernia and gastroesophageal regurgitation at the age of 1 year. Cecal volvulus occurred with a 540-degree clockwise rotation of terminal ileum to the right transverse colon and a displacement of the rotated loop to the right upper quadrant of the abdomen when he was 10 years old. Right hemicolectomy with divided ileo- and colostomy was performed. A second staged ileocolostomy was performed uneventfully 3 months later. The midline structural defects with nonfixation of the cecum and ascending colon, chronic constipation, and previous abdominal surgery might have been the predisposing factors.
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PMID:Cecal volvulus in a child with CHARGE syndrome. 1667 64

X-linked alpha thalassemia mental retardation (ATR-X) syndrome is associated with profound developmental delay, facial dysmorphism, genital abnormalities, and alpha thalassemia. Patients with ATR-X syndrome frequently present with gastrointestinal problems, in particular feeding difficulties, regurgitation and vomiting, abdominal pain, distension, and chronic constipation. Parental reports of prolonged food refusal and distress in these children are common and although these episodes are suspected to be gastro-intestinal in origin they are rarely investigated. Death in early childhood from aspiration of vomitus or from pneumonia presumed to be secondary to aspiration has been recorded in a number of ATR-X cases. In this report we review the gastrointestinal phenotype of ATR-X syndrome in 128 cases. We also demonstrate that in two siblings, regurgitation was secondary to gastric pseudo-volvulus, a condition in which the stomach does not have a normal system of peritoneal ligaments and changes position with possible torsion around itself. Furthermore, ultra-short Hirschsprung disease with colonic hypoganglionosis was shown and this may contribute to the severe constipation affecting these children.
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PMID:Gastrointestinal phenotype of ATR-X syndrome. 1668 41

We report on a 12-year-old girl presenting with mental retardation, trigonocephaly, midface hypoplasia, upward-slanting palpebral fissures, arched eyebrows, bilateral epicanthal folds, hypertelorism, a flattened nasal bridge, a short nose, anteverted nares, a long philtrum, a small mouth, micrognathia, low-set ears, a short neck, long digits, flexion deformity of the fingers of the hands, hypoplasia of the labia majora, hyperplasia of the labia minora, flat feet, dysphagia, frequent regurgitation, prominent esophageal dilation, and achalasia. Seizures were noted since 5 years of age. Cytogenetic analysis of her peripheral blood revealed a karyotype of 46,XX, der(9)t(1;9)(p36.22;p22.2)pat. Achalasia, an uncommon esophageal motor disorder, has not been previously described in association with either a deletion of 9p or a duplication of 1p.
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PMID:Partial trisomy 1p (1p36.22-->pter) and partial monosomy 9p (9p22.2-->pter) associated with achalasia, flexion deformity of the fingers and epilepsy in a girl. 1710 Jan 98


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