Skip to main content
SpringerLink
Log in

Acrodysostosis with 5α reductase deficiency: An unsual association

  • Clinical Briefs
  • Published:
The Indian Journal of Pediatrics Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

References

  1. Joshi RM, Pandya AL, Bharucha BA et al. Acrodysostosis syndrome.Indian J Pediatr 1987; 54: 271–273.

    Article  PubMed  CAS  Google Scholar 

  2. Maroteaux P, Malamut GL. Acrodysostoses.Press Med 1968; 76: 2189. Quoted in the Genetics of Hand Malformation by Temtamy SA, and Mc Kusick VA.Birth Defects. Original Article Series No. 3, The N.F. March of Dimes, New York: 1978; 14: 280–282.

    PubMed  CAS  Google Scholar 

  3. Viljoen D, Beighton P. Epiphyseal stippling in Acrodysostosis.Am J Med Genet 1991; 38: 43–45.

    Article  PubMed  CAS  Google Scholar 

  4. Robinow M. Acrodysostosis: A syndrome of peripheral dysostosis, nasal hypoplasia and mental retardation.Am J Dis Child 1971; 121: 195–196.

    PubMed  CAS  Google Scholar 

  5. Buyse ML.Birth Defects Encyclopedia. Massachussets: Blackwell Scientific Publications, 1990.

    Google Scholar 

  6. Jones KL.Smith's Recognizable Patterns of Human Malformation, 4th ed. Philadelphia: W.B. Saunders Company, 1988; 592–593.

    Google Scholar 

  7. Giedion A. Acrodysplasias: Peripheral dysostosis, Acrodysostosis and Thiemann's disease.Clin Orthop 1976; 114: 107–109.

    PubMed  Google Scholar 

  8. Davies RW, Hall CM, Aploy GA.Atlas of Skeletal Dysplasias, London: Churchill Livingstone, 1986; 233–236.

    Google Scholar 

  9. Butler MG, Rames LJ, Wadington WB. Acrodysostosis: A report of 13 year old boy with review of literature and metacarpophalangeal pattern analysis.Am J Med Genet 1988; 30: 971–980.

    Article  PubMed  CAS  Google Scholar 

  10. Hernandez RM, Mirand A, Koffman Alfaro S. Acrodysostosis in two generations: An autosomal dominant syndrome.Clin Genet 1991; 39: 376–382.

    Article  PubMed  CAS  Google Scholar 

  11. Nikawa N, Matsuda I, Ohshawa T et al. Familial occurence of a syndrome with mental retardation, nasal hypoplasia, peripheral dysostosis and blue eyes in Japanese siblings.Hum Genet 1978; 48: 227–232.

    Article  Google Scholar 

  12. Mc Kusick VA. Mendelian Inheritance in Man. Catalog of Autosomal Dominant, Autosomal Recessive and X-Linked Phenotypes, 10th ed, Vol. 2 John Hopkins University Press,Familial incomplete male pseudohermaphroditism No 264600. 1992: pp 1660.

  13. Rhotagi M. Intersex disorders: An approach to surgical management.Indian J Pediatr 1992; 59: 523–530.

    Google Scholar 

  14. Greene SA, Symes E, Brooke CGD. 5 α reductase deficiency causing male pseudohermaphroditism.Arch Dis Child 1978; 53: 751–753.

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Genetic Clinic Department of Pediatrics, Seth G.S. Medical College & K.E.M. Hospital, Parel, Bombay

    Girish L. Gupte, Archana S. Kher, Sanjeevani P. Kanade & Burjor A. Bharucha

  2. Department of Urology, P.D. Hinduja National Hospital Research Centre, Mahim, Bombay

    Sharad N. Sagade

Authors
  1. Girish L. Gupte
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Archana S. Kher
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Sanjeevani P. Kanade
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Burjor A. Bharucha
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Sharad N. Sagade
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Gupte, G.L., Kher, A.S., Kanade, S.P. et al. Acrodysostosis with 5α reductase deficiency: An unsual association. Indian J Pediatr 61, 287–290 (1994). https://doi.org/10.1007/BF02752226

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF02752226

Keywords

Search

Navigation