Skip to main content
SpringerLink
Log in

Desbuquois syndrome presenting with severe neonatal dwarfism, spondylo-epiphyseal dysplasia and advanced carpal bone age

  • Originals
  • Published:
Pediatric Radiology Aims and scope Submit manuscript

Abstract

An infant with the clinical and radiological findings of short stature, hyperlaxity and osseous disorders typical of Desbuquois syndrome was followed from second trimester intrauterine life to his death at age of 22/12 years old.

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

Similar content being viewed by others

References

  1. Desbuquois G, Grenier B, Michel J, Rossignol C (1966) Nanisme chondrodystrophique avec ossification anarchique et polymalformations chez deux soeurs. Arch Fr Pédiatr 23: 573–587

    Google Scholar 

  2. Le Merrer M, Young ID, Stanescu V, Maroteaux P (1991) Desbuquois syndrome. Eur J Pediatr 150: 793–796

    Article  PubMed  Google Scholar 

  3. Piussan C, Maroleaux P, Castroviejo I, Risbourg B (1975) Dysplasie osseuse avec nanisme et altérations squelettiques diffuses. Arch Fr Pédiatr 32: 541–550

    Google Scholar 

  4. Meinecke P, Spranger J, Schaefer E, Maroteaux P (1989) Micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification: another observation. Am J Med Genet 32: 432–434

    Article  PubMed  Google Scholar 

  5. Anderson CE, Bocian ME, Walker AP, Lachman R, Rimoin DL (1982) A syndrome of short stature, joint laxity and developmental delay. Clin Genet 22: 40–46

    PubMed  Google Scholar 

  6. Beemer FA, Kramer PPG, van der Harten HJ, Gerards LJ (1985) A new syndrome of dwarfism, neonatal death, narrow chest spondylometaphyseal abnormalities, and advanced bone age. Am J Med Genet 20: 555–558

    Article  PubMed  Google Scholar 

  7. Pazzaglia UE, Pedrotti L, Beluffi G, and Ceciliani L (1988) Chondrodystrophic dwarfism and multiple malformations in two sisters. Pediatr Radiol 19: 41–44

    PubMed  Google Scholar 

  8. Larsen LJ, Schottstaedt ER, Bost FC (1950) Multiple congenital dislocations associated with characteristic facial abnormality. J Pediatr 37: 574–581

    PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Radiology, Ste-Justine Hospital, University of Montreal, 3175, Chemin Ste-Catherine, H3T 1C5, Montreal, Quebec, Canada

    S. Jéquier & G. Perreault

  2. Hopital des Enfants Malades, 149, rue de Sèvres, F-75743, Paris Cedex 15, France

    P. Maroteaux

Authors
  1. S. Jéquier
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. G. Perreault
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. P. Maroteaux
    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

Jéquier, S., Perreault, G. & Maroteaux, P. Desbuquois syndrome presenting with severe neonatal dwarfism, spondylo-epiphyseal dysplasia and advanced carpal bone age. Pediatr Radiol 22, 440–442 (1992). https://doi.org/10.1007/BF02013506

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF02013506

Keywords

Search

Navigation