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

We studied a family with the Bardet-Biedl syndrome and diabetes mellitus. Two affected brothers and one affected sister were examined. Two older sisters with stigmata of the syndrome had died of unclear causes. The 18-year-old brother was obese, was mentally retarded, and had pigmentary retinopathy and insulin-dependent diabetes mellitus. The 16-year-old sister, who died in a diabetic coma during the course of the investigation, had polydactyly, hypogenitalism, obesity, mental retardation, and pigmentary retinopathy. The 8-year-old brother had all the features of the syndrome, but no overt diabetes mellitus. Electroretinography showed severe cone and rod dysfunction. Patients with the Bardet-Biedl syndrome should be screened for the presence of abnormalities in glucose metabolism.
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PMID:A family with the Bardet-Biedl syndrome and diabetes mellitus. 273 Apr 6

To determine the interfamilial and intrafamilial variation in the expression of the Bardet-Biedl syndrome (a form of Laurence-Moon-Biedl syndrome), we looked for the five recognized features of the disorder (retinal dystrophy, obesity, polydactyly, mental retardation, and hypogonadism), plus possible renal manifestations, in some or all of 32 patients with this disorder. All 28 patients examined had severe retinal dystrophy, but only 2 had typical retinitis pigmentosa. Polydactyly was present in 18 of 31 patients, but syndactyly, brachydactyly, or both were present in all. Obesity was present in all but 1 of 25 patients. Only 13 of 32 patients were considered mentally retarded. Scores on verbal subtests of intelligence were usually lower than scores on performance tasks. Seven of eight men had small testes and genitalia, which was not due to hypogonadotropism. All 12 women studied had menstrual irregularities, and 3 had low serum estrogen levels (1 of these had hypogonadotropism, and 2 had primary gonadal failure). The remaining women who were of reproductive age had endocrinologic evidence of reproductive dysfunction. Diabetes mellitus was present in 9 of 20 patients. Renal structural or functional abnormalities were universal (n = 21), and three patients had end-stage renal failure. We conclude that the characteristic features of Bardet-Biedl syndrome are severe retinal dystrophy, dysmorphic extremities, obesity, renal abnormalities, and (in male patients only) hypogenitalism. Mental retardation, polydactyly, and hypogonadism in female patients are not necessarily present.
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PMID:The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. 277 27

Four cases of Laurence-Moon-Bardet-Biedl syndrome were studied through electrophysiological and psychophysical examinations, and findings were correlated with those of fluorescein angiography. In all cases the macula showed degenerative changes, including a bull's eye appearance. The fundus periphery could be devoid of clumps of pigmentation, but all cases showed profound functional abnormalities that affected the macula and the periphery, impairing both the cone and rod systems equally. Bull's eye macula associated with severe, diffuse functional abnormality of the macula and peripheral retina, along with obesity and mental retardation, help establish the diagnosis of Laurence-Moon-Bardet-Biedl syndrome.
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PMID:Laurence-Moon-Bardet-Biedl syndrome: electrophysical and psychophysical findings. 407 25

Bardet-Biedl syndrome in a 10 year old boy from Botswana is described. The patient presented with retinitis pigmentosa, polydactyly, mental retardation, obesity and hypogenitalism. The patient has a twin brother who has the same clinical signs. This is the second time this condition has been described in the African literature and the first time reported in Black twins.
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PMID:A further case of Bardet-Biedl syndrome. 762 2

Bardet-Biedl syndrome is a heterogeneous autosomal recessive disorder characterized by obesity, mental retardation, polydactyly, retinitis pigmentosa and hypogonadism. Patients with this disorder also have a high incidence of hypertension, diabetes mellitus, and renal and cardiovascular anomalies. Three independent loci causing Bardet-Biedl syndrome have previously been reported. In this study, we we utilized a DNA pooling approach using DNA samples from a highly inbred Bedouin kindred to identify a new Bardet-Biedl syndrome locus on chromosome 15. The results further demonstrate the genetic heterogeneity of this disorder. In addition, the results demonstrate the efficiency of the DNA pooling approach for identifying recessive disease loci in highly inbred human populations.
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PMID:Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15. 771 39

Six patients with Bardet-Biedl syndrome who have been followed in our clinics for the last 5 years are reported in this study. Of the five classic features of this syndrome; obesity and mental retardation were present in all cases, retinal disturbances were present in five, polydactyly in three and hypogenitalism was observed in all four male patients. Renal involvement, often suggested as a cardinal feature of this syndrome, was described in two patients. Iron deficiency anemia occurred in three patients, two patients were of short stature, one patient presented with an empty sella, and in two patients clinodactyly was detected. The results are compared to previously published literature and discussed.
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PMID:Clinical features of Bardet-Biedl syndrome. 779 64

The Bardet-Biedl syndrome is an autosomal recessive disorder of polydactyly, obesity, tapetoretinal degeneration, mental retardation, hypogenitalism, and renal involvement. A high incidence of congenital and acquired heart disease was reported in the former "Laurence-Moon-Biedl-Bardet" syndrome. However, since the establishment of the Bardet-Biedl syndrome as a separate clinical entity, cardiac involvement has not been evaluated in this disorder. We have performed echocardiographic studies on 22 patients with the Bardet-Biedl syndrome from three extended, highly inbred Bedouin families. In addition to previously reported congenital heart defects we have observed hypertrophy of the interventricular septum and dilated cardiomyopathy. Our findings of cardiac involvement in 50% of the cases suggest that echocardiographic examination should be included in the clinical evaluation and follow-up of patients with Bardet-Biedl syndrome.
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PMID:Cardiac abnormalities in the Bardet-Biedl syndrome: echocardiographic studies of 22 patients. 1060 22

An ano-cutaneous fistula associated with a Bardet-Biedl syndrome in a 12-year old African boy is described. The patient presented with mental retardation, obesity, syndactyly, polydactyly, retinitis pigmentosa and hypogenitalism. Past history revealed that he had an imperforated anus with anocutaneous fistula at birth, which was repaired successfully. The the best of our knowledge, it is the first case described in the African literature.
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PMID:Ano-cutaneous fistula associated with Bardet-Biedl syndrome in an African child. 792 68

The Laurence-Moon-Bardet-Biedl syndrome consists of: retinitis pigmentosa, adiposo-genital dystrophy, syndactyly, mental retardation. It is presented a patient with atypical retinitis pigmentosa--unilateral, sectorial and hypopigmentary form, as part of the Laurence-Moon-Bardet-Biedl syndrome.
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PMID:[The Laurence-Moon-Bardet-Biedl syndrome]. 794 72

Bardet-Biedl syndrome is an autosomal recessive disorder characterized by mental retardation, obesity, retinitis pigmentosa, polydactyly and hypogonadism. Individuals with this disorder also have an increased incidence of hypertension, diabetes mellitus, and renal and cardiac anomalies. We previously identified a locus on chromosome 16 causing this disorder, and provided evidence that Bardet-Biedl syndrome is heterogeneous. In this study, we identify another Bardet-Biedl syndrome locus on chromosome 3 and confirm the non-allelic heterogeneity of this disorder in Bedouin populations. In addition, we demonstrate the feasibility of using pooled DNA samples from members of large kindreds as an efficient approach to homozygosity mapping.
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PMID:Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping. 798 10


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