Skip to main content
NCBI home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1992 Aug;29(8):592–594. doi: 10.1136/jmg.29.8.592

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

P Labrune 1, R Assathiany 1, D Penso 1, M Odièvre 1
PMCID: PMC1016071  PMID: 1518029

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.

Full text

PDF
592

Images in this article

592Image
on p.592
593Image
on p.593
593Image
on p.593

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Aurias A., Antoine J. L., Assathiany R., Odievre M., Dutrillaux B. Radiation sensitivity of Bloom's syndrome lymphocytes during S and G2 phases. Cancer Genet Cytogenet. 1985 Mar 15;16(2):131–136. doi: 10.1016/0165-4608(85)90006-8. [DOI] [PubMed] [Google Scholar]
  2. Aurias A., Dutrillaux B., Buriot D., Lejeune J. High frequencies of inversions and translocations of chromosomes 7 and 14 in ataxia telangiectasia. Mutat Res. 1980 Feb;69(2):369–374. doi: 10.1016/0027-5107(80)90101-3. [DOI] [PubMed] [Google Scholar]
  3. Bahemuka M., Brown J. D. Heredofamilial syndrome of spastic paraplegia, dysarthria and cutaneous lesions in ive siblings. Dev Med Child Neurol. 1982 Aug;24(4):519–524. doi: 10.1111/j.1469-8749.1982.tb13659.x. [DOI] [PubMed] [Google Scholar]
  4. Boder E. Ataxia-telangiectasia: some historic, clinical and pathologic observations. Birth Defects Orig Artic Ser. 1975;11(1):255–270. [PubMed] [Google Scholar]
  5. Chaganti R. S., Schonberg S., German J. A manyfold increase in sister chromatid exchanges in Bloom's syndrome lymphocytes. Proc Natl Acad Sci U S A. 1974 Nov;71(11):4508–4512. doi: 10.1073/pnas.71.11.4508. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Mukamel M., Weitz R., Metzker A., Varsano I. Spastic paraparesis, mental retardation, and cutaneous pigmentation disorder. A new syndrome. Am J Dis Child. 1985 Nov;139(11):1090–1092. doi: 10.1001/archpedi.1985.02140130028023. [DOI] [PubMed] [Google Scholar]
  7. O'Doherty N. J., Gorlin R. J. The ermine phenotype: pigmentary-hearing loss heterogeneity. Am J Med Genet. 1988 Aug;30(4):945–952. doi: 10.1002/ajmg.1320300412. [DOI] [PubMed] [Google Scholar]
  8. Taalman R. D., Hustinx T. W., Weemaes C. M., Seemanová E., Schmidt A., Passarge E., Scheres J. M. Further delineation of the Nijmegen breakage syndrome. Am J Med Genet. 1989 Mar;32(3):425–431. doi: 10.1002/ajmg.1320320332. [DOI] [PubMed] [Google Scholar]
  9. Weemaes C. M., Hustinx T. W., Scheres J. M., van Munster P. J., Bakkeren J. A., Taalman R. D. A new chromosomal instability disorder: the Nijmegen breakage syndrome. Acta Paediatr Scand. 1981 Jul;70(4):557–564. doi: 10.1111/j.1651-2227.1981.tb05740.x. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES