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)

A case diagnosed as Bardet-Biedl syndrome with polydactyly and hypertension has been presented here. Bardet-Biedl syndrome is an autosomal recessive disorder, which includes renal dystrophy, dystrophic extremities (often polydactyly), obesity, hypogenitalism, renal disease, and mental retardation. It was first described by John Z. Laurence and Robert Moon. The basic components of the syndrome were established by George Bardet in 1920 and Arthur Biedl in 1922. Although it is still referred to as Laurence-Moon-Bardet-Biedl in some reports, it has recently acquired the name Bardet-Biedl syndrome. Patients were generally lost due to renal insufficiency at young ages.
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PMID:Polydactyly and hypertension. 1894 77

Laurence-Moon-Bardet-Biedl syndrome is a rare, genetically heterogeneous autosomal recessive disorder, characterized by progressive retinal dystrophy, polydactyly, obesity, hypogonadism, mental retardation, and renal dysfunction. Other manifestations include diabetes mellitus, heart disease, hepatic fibrosis and neurological features. Herein, 2 patients with Laurence-Moon-Bardet-Biedl syndrome are described, who had features of persistent hypokalemia and megaloblastic anemia.
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PMID:Hypokalemic paralysis and megaloblastic anaemia in Laurence-Moon-Bardet-Biedl syndrome. 1926 21

A 14 year old Bangladeshi boy presented with obesity, reduced vision, mental retardation, hypogonadism, delayed development and learning difficulty. On examination, he had polydactyly, moon face, bilateral gynaecomastia, small penis and undescended testes. Retinitis pigmentosa was found on fundoscopy. With typical features, he was diagnosed as a case of Laurence-Moon-Bardet-Biedl syndrome. It is a rare autosomal recessive disorder with mutation in 6 loci identified so far. It is commonly found in communities with high inter-family marriage. Clinical features appear early in childhood and diagnosis is usually done by puberty. Prominent features include rod-cone dystrophy leading to blindness, postaxial polydactyly, central obesity, learning disability, hypogonadism in males and renal dysfunction. Relatives with a single affected gene may have obesity, hypertension, diabetes and renal disease. There is increased risk of renal cell carcinoma. There is no definite treatment. Early diagnosis and symptomatic, supportive and rehabilitative measures can reduce the disability. These include dietary modification, oral hypoglycaemic drugs, testosterone supplement etc. Relatives of the patient should be screened for renal abnormality.
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PMID:Laurence Moon Bardet Biedl Syndrome. 1937 20

A 4-year old boy was referred for evaluation of renal failure, posterior urethral valve (PUV) and urinary tract infection. His parents added complaints of polyuria, polydipsia, enuresis, shortness of stature, and inappropriate obesity. Serum blood urea nitrogen and creatinine levels were 45 and 3.5 mg/dL, respectively. Urine culture was positive for Pseudomonas aeruginosa, and abdominal ultrasound revealed bilateral small kidneys. The patient's history included mild to moderate mental retardation and postaxial polydactyly of both lower limbs amputated two years ago. The combination of mental retardation, obesity, postaxial polydactyly, and bilateral renal hypoplasia were compatible with the diagnosis Bardet-Biedl syndrome (BBS). The combination of PUV and BBS is a rare condition that caused this early onset of renal failure and inappropriate obesity guided us to the diagnosis.
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PMID:Bardet-biedl syndrome in a child with chronic kidney disease. 1941 50

Bardet-Biedl syndrome is an autosomal recessive disorder characterized by rod-cone dystrophy, postaxial polydactyly, obesity, hypogenitalism, mental retardation, and renal dysfunction. It has both interfamilial and intrafamilial clinical variation. We have studied the clinical spectrum of 11 Saudi Arabian patients from four consanguineous families. Postaxial polydactyly was seen in eight individuals and rod-cone dystrophy in almost all patients. Night blindness and diminished visual acuity manifested at varying ages, beginning as early as 36 months. Obesity was found to be common. Renal anomalies were detected in eight patients (72%) and two of them developed end-stage renal failure at 14 and 15 years of age. We also found an increased prevalence of Hirschsprung's disease among these patients. Hypogenitalism was manifested as micropenis in males and delayed sexual maturation in females. Heart defects were uncommon in our series. In contrast, there was increased susceptibility to develop diabetes mellitus and two of our patients developed diabetes at 15 and 22 years of age.
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PMID:Clinical spectrum of Bardet-Biedl syndrome among four Saudi Arabian families. 1970 23

Bardet-Biedl syndrome (BBS) is a rare cause of renal failure requiring renal replacement therapy. It is an autosomal recessive condition characterized by retinitis pigmentosa, postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal involvement. We report the first successful renal transplant in a case of BBS from India.
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PMID:Renal transplant in a child with Bardet-Biedl syndrome: A rare cause of end-stage renal disease. 2043 31

Bardet-Biedl syndrome (BBS) is an autosomal recessively inherited ciliopathy mainly characterized by rod-cone dystrophy, postaxial polydactyly, obesity, renal tract anomalies, and hypogonadism. To date, 14 BBS genes, BBS1 to BBS14, have been identified, accounting for over 75% of mutations in BBS families. In this study, we present a consanguineous family from Pakistan with postaxial polydactyly and late-onset retinal dysfunction. Adult affected individuals did not show any renal or genital anomalies, obesity, mental retardation or learning difficulties and did thus not fulfill the proposed clinical diagnostic criteria for BBS. We mapped the disease in this family to the BBS12 locus on chromosome 4q27 and identified the novel homozygous p.S701X nonsense mutation in BBS12 in all three affected individuals of this family. We conclude that BBS12 mutations might cause a very mild phenotype, which is clinically not diagnosed by the current diagnostic criteria for BBS. Consequently, we suggest the use of less strict diagnostic criteria in familial BBS families with mild phenotypic expression.
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PMID:A Novel Familial BBS12 Mutation Associated with a Mild Phenotype: Implications for Clinical and Molecular Diagnostic Strategies. 2064 43

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with a wide spectrum of clinical manifestations. BBS is predominantly characterized by dysmorphic distal extremities, obesity, structural abnormalities or functional impairment of the kidney, rod cone dystrophy, and varying degrees of mental retardation. Hypogenitalism is also present, only in males, and in all cases, facial similarities. We present herein two sisters with BBS, one of whom also had cerebellar vermis hypoplasia and cerebral and cerebellar atrophy, and both of whom had ocular abnormalities in the form of epicanthus and telecanthus and metabolic syndrome. It should also be emphasized that the occurrence of cerebellar involvement such as cerebellar vermis hypoplasia and cerebellar atrophy in BBS is very unusual. The association of abnormalities in brain development and other facial features in children with BBS is not seen frequently; thus, these abnormalities should be searched carefully.
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PMID:Two sisters with Bardet-Biedl syndrome: brain abnormalities and unusual facial findings. 2198 Aug 53

McKusick-Kaufman syndrome (MKS, OMIM #236700) is a rare syndrome inherited in an autosomal recessive pattern with a phenotypic triad comprising hydrometrocolpos (HMC), postaxial polydactyly (PAP), and congenital cardiac disease (CHD). The syndrome is caused by mutations in the MKKS gene mapped onto chromosome 20p12 between D20S162 and D20S894 markers. Mutations in the same gene causes Bardet-Biedl-6 syndrome (BBS-6, OMIM #209900) inherited in an autosomal recessive pattern. BBS-6 comprises retinitis pigmentosa, polydactyly, obesity, mental retardation, renal and genital anomalies. HMC, CHD, and PAP defects can also occur in BBS-6, and there is a significant clinical overlap between MKS and BBS-6 in childhood. We describe a new borderline case of MKS and BBS syndrome and suggest insights for understanding correlation between MKKS gene mutations and clinical phenotype. Here, we report the results of molecular analysis of MKKS in a female proband born in an Italian nonconsanguineous healthy family that presents HMC and PAP. The mutational screening revealed the presence of two different heterozygous missense variants (p.242A>S in exon 3, p.339 I>V in exon 4) in the MKKS gene, and a nucleotide variation in 5'UTR region in exon 2 (-417 A>C).
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PMID:McKusick-Kaufman or Bardet-Biedl syndrome? A new borderline case in an Italian nonconsanguineous healthy family. 2209 Jul 21

The Bardet-Biedl syndrome (BBS) is a rare ciliopathic human autosomal-recessive disorder, affecting multiple organ systems. Less than 15 cases have been reported from India. The authors present a classical case of BBS presenting to dermatology outpatient with hypogonadism and features such as marked central obesity, retinal dystrophy, polydactyly, structural renal abnormalities and mental retardation, along with a brief review of the literature. This case exemplifies the need for multidisciplinary management in such cases.
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PMID:Bardet-Biedl syndrome: a rare case report from North India. 2242 69


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