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

The Bardet-Biedl syndrome is characterized by polydactyly, hypogonadism, obesity, mental retardation, and retinitis pigmentosa. Several other skeletal findings include hip dysplasia, short stature, and skull deformities. The patient described in this report has the classic findings of Bardet-Biedl syndrome in conjunction with tibia vara and irregular physes of the lower extremities.
 ...
PMID:Tibia vara in a patient with Bardet-Biedl syndrome. 143 82

An unusual association of Bardet-Biedl syndrome with cystinuria was described in one patient. A 21-year-old male was admitted to hospital because of renal failure, severe deterioration of visual acuity, polydactyly, brachydactyly, and mental retardation. Laboratory investigations revealed a serum creatinine of 292 mumol/L (3.3 mg/dL) and a GFR of 25 mL/min per 1.73 m2. Quantitative ion exchange chromatography demonstrated an increased urinary excretion rate of cystine, lysine, arginine, and ornithine. The ophthalmologic examination showed a severe atypical retinal dystrophy. Visual acuity was severely deteriorated and the patient could only count the examining physician's fingers. The patient had been previously evaluated at the age of 7 years for polyuria, polydipsia, and growth failure. His workup at that time demonstrated nephrogenic diabetes insipidus, normal GFR, and a urinary amino acid pattern consistent with the cystinuric phenotype. There was mental retardation notwithstanding the normal ophthalmologic examination. Intravenous pyelography showed calyceal clubbing, calyceal cysts, and lobulated renal outlines of the fetal type. The patient was evaluated again at the age of 13 years for deterioration of visual acuity and the ophthalmologic examination showed an atypical retinal dystrophy, with sparse pigmentation, central and peripheral atrophy, attenuated vessels, and marked optic disk pallor. To our knowledge the association of Bardet-Biedl syndrome with cystinuria has never been reported. It is unlikely that cystinuria may have contributed to the kidney damage. The possibility that mental retardation has been induced or aggravated by cystinuria cannot be excluded.
 ...
PMID:Bardet-Biedl syndrome and cystinuria. 146 12

An isolated case of Bardet-Biedl syndrome in a 12 year-old Zimbabwean boy is described. The patient presented with retinitis pigmentosa, polydactyly, mental retardation, obesity and hypogenitalism. To the best of the author's knowledge, it is the first paediatric case described in the African literature.
 ...
PMID:Bardet-Biedl syndrome in a Zimbabwean child. 181 31

We report a case of Laurence-Moon-Bardet-Biedl Syndrome with all five recognised features: tapetoretinal dystrophy, polydactily, obesity, mental retardation and hypogonadism. Nevertheless the correct diagnosis was delayed due to the fact, that the patient has a macular dystrophy (instead of a pigmentary retinopathy). He had an operation of the polydactily during childhood. This was not revealed at first. The case underlines the importance of an exact anamnesis of the parents.
 ...
PMID:[Case report of Laurence-Moon-Bardet-Biedl syndrome]. 188 81

A 36 year old patient known to suffer from the Laurence-Moon-Biedl-Bardet syndrome (LMBBS) developed spastic quadriparesis. The typical features of the syndrome, presented by this patient were polydactyly, obesity, hypogonadism, retinitis pigmentosa and relative mental retardation. Severe spinal cervical and lumbar canal stenosis imaged by plain X-rays and computerised tomography was found. Magnetic resonance imaging showed significant atrophy of the spinal cord, indicating that the cause of the quadriparesis was cervical myelopathy. The patient underwent laminoplasty with some improvement.
 ...
PMID:Quadriparesis in the Laurence-Moon-Biedl-Bardet syndrome: case report. 188 35

Tapetoretinal degeneration, obesity, polydactyly, mental retardation, and hypogonadism are the cardinal signs of Bardet-Biedl syndrome. Formerly grouped with Laurence-Moon syndrome, Bardet-Biedl has established itself as a separate entity. It is one of the rare systemic diseases associated with a form of retinitis pigmentosa. Presented here is a case report of a child first diagnosed with this condition. The importance of identifying the systemic signs, ocular involvement, electrophysiologic testing, genetics, and management are discussed.
 ...
PMID:Bardet-Biedl syndrome. 208 29

A case report of the rare Lawrence-Moon-Bardet-Biedl Syndrome in a 10-year old Nigerian boy is presented. The findings were obesity, mental retardation, polydactyly hypogonadism, macula degeneration and retinities pigmentosa.
 ...
PMID:Lawrence-Moon-Bardet-Biedl syndrome: a case report. 227 40

The Bardet-Biedl syndrome is a rare autosomal recessive disorder characterized by pigmentary retinopathy, obesity, polydactyly, hypogonadism, and mental retardation. Renal abnormalities, hypertension, acquired heart disease, and hepatic fibrosis also occur in homozygotes. Two adult Bardet-Biedl sibs, a man with hypertension and cardiomegaly and a woman with biliary cirrhosis, and 75 relatives in 5 generations of the extended family were identified. Hospital records for major illnesses, death certificates, and autopsy reports were examined. The frequent observation of obesity, hypertension, diabetes mellitus, and renal disease in first-degree relatives, obligate gene carriers, and other blood relatives raise the possibility that Bardet-Biedl heterozygotes are also predisposed to these disorders.
 ...
PMID:Obesity, hypertension, and renal disease in relatives of Bardet-Biedl syndrome sibs. 187 34

In 1984, 32 persons with Laurence-Moon-Bardet-Biedl syndrome (LMBB) were registered in Norway. This means that the disorder was seen at a rate of 1 in 128,000 inhabitants. Of these, 26 attended the Frambu Health Centre, where they consulted a pediatrician, a psychologist, a dentist, a social worker, a geneticist, a teacher for the blind and an ophthalmologist. The cardinal signs were retinitis pigmentosa, obesity and polydactyly. We also found that all the patients had disturbance of tooth formation. Many had hypogenitalism. Mental retardation is usually included as a cardinal sign. Our impression is that most of the patients have normal intelligence. But this will be investigated further in a follow-up study on young people with LMBB.
 ...
PMID:[Laurence-Moon-Bardet-Biedl syndrome]. 234 67

The Laurence-Moon-Bardet-Biedl syndrome (LMBB) is characterized by the association of obesity, hypogonadism, polydactyly, mental retardation and pigmentary retinitis. Symptomatic or asymptomatic renal dysplasia (calyceal diverticula, precalyceal tubular ectasia, cysts) is frequently associated with LMBB. The authors consider renal sonography as the convenient investigation for an early detection of such dysplasia as in the case they reported here.
 ...
PMID:[The value of echography in the early diagnosis of renal lesions in the Laurence-Moon-Bardet-Biedl syndrome. Apropos of a case]. 265 80


1 2 3 4 5 6 7 8 9 10 Next >>