Literature DB >> 2226552

A patient with features of both Bardet-Biedl and Alström syndromes.

C Hauser1, C Rojas, A Roth, E Schmied, J H Saurat.   

Abstract

We describe a 30-year-old patient with acanthosis nigricans, diabetes mellitus with insulin resistance, hypogonadotropic hypogonadism, pigmentary degeneration of the retina and cerebellar, pyramidal and posterior columnar involvement. He had normal mental function, normal hearing and no hexadactyly. The patient had symptoms of both Bardet-Biedl and Alström syndromes, but did not manifest all the main features of either syndrome. This suggests either that the Bardet-Biedl, Alström, Laurence-Moon syndromes (including the variant described by Edwards) have a highly variable expression or that our case is a new variant within this group of syndromes.

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Year:  1990        PMID: 2226552     DOI: 10.1007/bf01957281

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN: 0340-6199            Impact factor:   3.183


  14 in total

1.  [Adiposogenital familial dystrophy (Babinski-Fröhlich), with consanguinity of parents and its relation with Bardet-Biedl syndrome].

Authors:  D KLEIN; R JENNY
Journal:  Rev Otoneuroophtalmol       Date:  1956

2.  Impaired insulin-induced RNA synthesis secondary to a genetically defective insulin receptor.

Authors:  H W Rüdiger; P Ahrens; M Dreyer; B Frorath; C Löffel; U Schmidt-Preuss
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

3.  [A case of Alström syndrome associated with situs inversus totalis and characteristic liver cirrhosis (author's transl)].

Authors:  Y Ikeda; Y Morita; Y Matsuo; Y Akanuma; H Itakura
Journal:  Nihon Naika Gakkai Zasshi       Date:  1974-11-10

4.  Familial syndrome of primary testicular insufficiency with normal virilization, blindness, deafness and metabolic abnormalities.

Authors:  R L Weinstein; B Kliman; R E Scully
Journal:  N Engl J Med       Date:  1969-10-30       Impact factor: 91.245

5.  Four cases of "retinitis pigmentosa" occurring in the same family, and accompanied by general imperfections of development. 1866.

Authors:  J Z Laurence; R C Moon
Journal:  Obes Res       Date:  1995-07

6.  The Alström syndrome: ophthalmic histopathology and retinal ultrastructure.

Authors:  J Sebag; D M Albert; J L Craft
Journal:  Br J Ophthalmol       Date:  1984-07       Impact factor: 4.638

7.  Bardet-Biedl syndrome and related disorders.

Authors:  A P Schachat; I H Maumenee
Journal:  Arch Ophthalmol       Date:  1982-02

8.  A new familial syndrome characterized by pigmentary retinopathy, hypogonadism, mental retardation, nerve deafness and glucose intolerance.

Authors:  J A Edwards; P K Sethi; A J Scoma; R M Bannerman; L A Frohman
Journal:  Am J Med       Date:  1976-01       Impact factor: 4.965

9.  Ophthalmologic and systemic manifestations of Alström's disease.

Authors:  R H Millay; R G Weleber; J R Heckenlively
Journal:  Am J Ophthalmol       Date:  1986-10-15       Impact factor: 5.258

10.  The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome.

Authors:  J S Green; P S Parfrey; J D Harnett; N R Farid; B C Cramer; G Johnson; O Heath; P J McManamon; E O'Leary; W Pryse-Phillips
Journal:  N Engl J Med       Date:  1989-10-12       Impact factor: 91.245

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  4 in total

1.  Intrafamilial variation of the phenotype in Bardet-Biedl syndrome.

Authors:  R Riise; S Andréasson; M K Borgaström; A F Wright; N Tommerup; T Rosenberg; K Tornqvist
Journal:  Br J Ophthalmol       Date:  1997-05       Impact factor: 4.638

2.  New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey.

Authors:  P L Beales; N Elcioglu; A S Woolf; D Parker; F A Flinter
Journal:  J Med Genet       Date:  1999-06       Impact factor: 6.318

3.  Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS).

Authors:  Kim M Keppler-Noreuil; Catherine Blumhorst; Julie C Sapp; Danielle Brinckman; Jennifer Johnston; Peggy C Nopoulos; Leslie G Biesecker
Journal:  BMC Med Genet       Date:  2011-07-27       Impact factor: 2.103

Review 4.  Primary cilia in neurodevelopmental disorders.

Authors:  Enza Maria Valente; Rasim O Rosti; Elizabeth Gibbs; Joseph G Gleeson
Journal:  Nat Rev Neurol       Date:  2013-12-03       Impact factor: 42.937

  4 in total

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