Skip to main content
SpringerLink
Log in

Lethal, neonatal, short-limbed platyspondylic dwarfism. A further variant?

  • Clinical Case Reports
  • Published:
Human Genetics Aims and scope Submit manuscript

Summary

A stillborn short-limbed platyspondylic dwarf is described. Detailed analysis of the X-ray and histological characteristics of bone and cartilage suggest that this infant represents a previously unreported variant of short-limbed platyspondylic dwarfism. The designation “Luton variant” is suggested.

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

  • Beighton P (1978) Inherited disorders of the skeleton. Churchill Livingstone, Edinburgh London New York

    Google Scholar 

  • Horton WA, Rimoin DL, Holister DW, Lachman RS (1979) Further heterogeneity within lethal neonatal short-limbed dwarfism. The platyspondylic types. J Pediatr 94:736–742

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Division of Inherited Metabolic Diseases, Clinical Research Centre, Watford Road, HA1 3UJ, Harrow, Middlesex, UK

    R. M. Winter

  2. Department of Histopathology, Northwick Park Hospital, Watford Road, HA1 3UJ, Harrow, Middlesex, UK

    E. M. Thompson

Authors
  1. R. M. Winter
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. E. M. Thompson
    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

Winter, R.M., Thompson, E.M. Lethal, neonatal, short-limbed platyspondylic dwarfism. A further variant?. Hum Genet 61, 269–272 (1982). https://doi.org/10.1007/BF00296459

Download citation

  • Received:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00296459

Keywords

Search

Navigation