1/27. Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes.McKusick-Kaufman syndrome (MKKS) is a rare, recessively inherited syndrome reported mainly in young children and is characterised by vaginal atresia with hydrometrocolpos, postaxial polydactyly, and congenital heart defect. bardet-biedl syndrome (BBS) is the generic name for a genetically heterogeneous group of autosomal recessive disorders characterised by retinal dystrophy or retinitis pigmentosa (appearing usually between 10 and 20 years of age), postaxial polydactyly, obesity, nephropathy, and mental disturbances, or, occasionally, mental retardation. Typically, MKKS is diagnosed (and reported) in very young children, whereas the diagnosis of BBS often is delayed to the teenage years. We report here a series of nine patients diagnosed in infancy with MKKS because of the presence of vaginal atresia and postaxial polydactyly, who later developed obesity and retinal dystrophy, thus turning out to be instances of BBS. The overlap of BBS and MKKS is a real diagnostic pitfall and its importance has to be stressed, for genetic counselling, for clinical management and follow up, and for molecular approaches. The diagnosis of MKKS should be considered with caution in all published cases described exclusively in the neonatal period and in those with mental retardation. We strongly recommend all children seen in infancy with a diagnosis of MKKS to be re-evaluated for RP and other signs of BBS.- - - - - - - - - - ranking = 1keywords = retinitis pigmentosa, pigmentosa, retinitis, dystrophy (Clic here for more details about this article) |
2/27. Diffuse brainstem glioma in a patient with Laurence-Moon-(Bardet-)Biedl syndrome.An autopsy case of a patient with diffuse brainstem glioma associated with Laurence-Moon-(Bardet-)Biedl syndrome is described. The subject was a 25-year-old woman who had been suffering from mental retardation, pigmented retinopathy, obesity, hexadactyly, amenorrhea and renal cysts. She developed dizziness, headache and consequent consciousness disturbance. Magnetic resonance images disclosed marked swelling of the pons without contrast enhancement. By means of combined chemotherapy and radiation, she survived for 15 months. Histopathological diagnosis for postmortem specimens obtained from the brainstem was glioblastoma multiforme. No pathogenetic association between the syndrome and brainstem gliomas is known, and the literature contains no cases of patients with this coincidence.- - - - - - - - - - ranking = 0.0024741836613137keywords = retinopathy (Clic here for more details about this article) |
3/27. A new familial syndrome characterized by pigmentary retinopathy, hypogonadism, mental retardation, nerve deafness and glucose intolerance.Three siblings with retinitis pigmentosa, deafness and mental retardation were studied. Physical abnormalities included nystagmus, acanthosis nigricans and multiple keloids. The two male siblings had gynecomastia, small testes and mild subvirilization whereas the only indication of hypogonadism in the female sibling was oligomenorrhea. testosterone levels in the males, which were in the low to low normal range, were increased by the administration of large doses of chorionic gonadotropin. The two affected males had elevated plasma luteinizing hormone (LH) and follicle-stimulating hormone (FSH) levels which were decreased by the administration of testosterone and increased by the administration of clomiphene. One sibling had mild obesity and diabetes mellitus, one had moderate obesity, normal glucose tolerance and hyperinsulinism and the third had abnormal glucose tolerance and hyperinsulinism. This familial syndrome is distinct from either the Laurence-Moon, Bardet-Biedl or Alstrom disorders and provides further evidence of genetic heterogeneity in this group of autosomal recessive traits.- - - - - - - - - - ranking = 1.0032815106453keywords = retinitis pigmentosa, pigmentosa, retinitis, retinopathy (Clic here for more details about this article) |
4/27. tibia vara in a patient with bardet-biedl syndrome.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.- - - - - - - - - - ranking = 0.99338477600002keywords = retinitis pigmentosa, pigmentosa, retinitis (Clic here for more details about this article) |
5/27. bardet-biedl syndrome and cystinuria.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.- - - - - - - - - - ranking = 0.0066152239999811keywords = dystrophy (Clic here for more details about this article) |
6/27. Linguistic and gait disturbance in a child with Laurence-Moon-Biedl syndrome: left temporal and parietal lobe hypoplasia.Laurence-Moon-Biedl syndrome is an autosomal recessive disorder characterized by retinitis pigmentosa, obesity, polydactyly, hypogenitalism, mental retardation, and renal abnormalities. We report the linguistic and gait disorders in a child with Laurence-Moon-Biedl syndrome associated with left temporal and parietal hypoplasia as determined by magnetic resonance imaging. Our patient was mildly mentally retarded, scoring better on the performance subtest than on the verbal subtest. He received serial assessments for developmental, language, speech, and gait functions, before and after rehabilitation, at age 4.5 and 6 yr, respectively. After comprehensive rehabilitation, the boy achieved improvement in speech, language, fine motor, and gait functions. Early comprehensive rehabilitation programs seem beneficial for improving functional development for children with Laurence-Moon-Biedl syndrome.- - - - - - - - - - ranking = 0.99338477600002keywords = retinitis pigmentosa, pigmentosa, retinitis (Clic here for more details about this article) |
7/27. bardet-biedl syndrome in a Zimbabwean child.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.- - - - - - - - - - ranking = 0.99338477600002keywords = retinitis pigmentosa, pigmentosa, retinitis (Clic here for more details about this article) |
8/27. Quadriparesis in the Laurence-Moon-Biedl-Bardet syndrome: case report.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.- - - - - - - - - - ranking = 0.99338477600002keywords = retinitis pigmentosa, pigmentosa, retinitis (Clic here for more details about this article) |
9/27. bardet-biedl syndrome.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.- - - - - - - - - - ranking = 0.99382052950136keywords = retinitis pigmentosa, pigmentosa, retinitis, degeneration (Clic here for more details about this article) |
10/27. Dental abnormalities as a component of the Laurence-Moon-bardet-biedl syndrome.Previous reports have described the diversity of the phenotypic expression of the Laurence-Moon and bardet-biedl syndrome. This report describes two brothers whose features include the previously unreported defect of oligodontia in addition to retinitis pigmentosa, hypogenitalism, strabismus, short stature, and developmental delay. The reports over the last century have emphasized the varied expression from family to family and even differences among members of the same family. This report broadens the already pleomorphic nature of this syndrome.- - - - - - - - - - ranking = 0.99338477600002keywords = retinitis pigmentosa, pigmentosa, retinitis (Clic here for more details about this article) |
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