Literature DB >> 1518029

Progressive vitiligo, mental retardation, facial dysmorphism, and urethral duplication without chromosomal breakage or immunodeficiency.

P Labrune1, R Assathiany, D Penso, M Odièvre.   

Abstract

A boy, born to first cousin parents of Algerian origin, first presented at the age of 9 years with growth failure, mental retardation, and dysmorphic facies. Progressive vitiligo developed from the age of 12 and distal duplication of the urethra was later recognised. The basis of this syndrome remains to be determined; autoimmune disease, chromosomal breakage syndromes, and other neurocutaneous syndromes have been excluded.

Entities:  

Mesh:

Year:  1992        PMID: 1518029      PMCID: PMC1016071          DOI: 10.1136/jmg.29.8.592

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  9 in total

1.  Further delineation of the Nijmegen breakage syndrome.

Authors:  R D Taalman; T W Hustinx; C M Weemaes; E Seemanová; A Schmidt; E Passarge; J M Scheres
Journal:  Am J Med Genet       Date:  1989-03

Review 2.  Ataxia-telangiectasia: some historic, clinical and pathologic observations.

Authors:  E Boder
Journal:  Birth Defects Orig Artic Ser       Date:  1975

3.  Heredofamilial syndrome of spastic paraplegia, dysarthria and cutaneous lesions in ive siblings.

Authors:  M Bahemuka; J D Brown
Journal:  Dev Med Child Neurol       Date:  1982-08       Impact factor: 5.449

4.  A manyfold increase in sister chromatid exchanges in Bloom's syndrome lymphocytes.

Authors:  R S Chaganti; S Schonberg; J German
Journal:  Proc Natl Acad Sci U S A       Date:  1974-11       Impact factor: 11.205

5.  High frequencies of inversions and translocations of chromosomes 7 and 14 in ataxia telangiectasia.

Authors:  A Aurias; B Dutrillaux; D Buriot; J Lejeune
Journal:  Mutat Res       Date:  1980-02       Impact factor: 2.433

Review 6.  The ermine phenotype: pigmentary-hearing loss heterogeneity.

Authors:  N J O'Doherty; R J Gorlin
Journal:  Am J Med Genet       Date:  1988-08

7.  Radiation sensitivity of Bloom's syndrome lymphocytes during S and G2 phases.

Authors:  A Aurias; J L Antoine; R Assathiany; M Odievre; B Dutrillaux
Journal:  Cancer Genet Cytogenet       Date:  1985-03-15

8.  Spastic paraparesis, mental retardation, and cutaneous pigmentation disorder. A new syndrome.

Authors:  M Mukamel; R Weitz; A Metzker; I Varsano
Journal:  Am J Dis Child       Date:  1985-11

9.  A new chromosomal instability disorder: the Nijmegen breakage syndrome.

Authors:  C M Weemaes; T W Hustinx; J M Scheres; P J van Munster; J A Bakkeren; R D Taalman
Journal:  Acta Paediatr Scand       Date:  1981-07
  9 in total
  1 in total

Review 1.  Lower urinary tract development and disease.

Authors:  Hila Milo Rasouly; Weining Lu
Journal:  Wiley Interdiscip Rev Syst Biol Med       Date:  2013-02-13
  1 in total

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