Pediatric Radiology

, Volume 34, Issue 1, pp 75–82

Recessive omodysplasia: five new cases and review of the literature

  • Nursel H. Elçioglu
  • Karl H. Gustavson
  • Andrew O. M. Wilkie
  • Memune Yüksel-Apak
  • Jürgen W. Spranger
Original Article

DOI: 10.1007/s00247-003-1064-9

Cite this article as:
Elçioglu, N.H., Gustavson, K.H., Wilkie, A.O.M. et al. Pediatr Radiol (2004) 34: 75. doi:10.1007/s00247-003-1064-9

Abstract

Background

Autosomal recessive omodysplasia (MIM 258315) is a rare skeletal dysplasia characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance. Fewer than 20 cases have been reported in the literature so far.

Objective

The purpose of this study was to more clearly describe the clinical and radiographic phenotypes and their changes with age.

Materials and methods

Five new patients, including two sibs, with autosomal recessive omodysplasia are presented.

Results

Clinical features are rhizomelic dwarfism with limited extension of elbows and knees and a distinct face with a short nose, depressed nasal bridge, long philtrum, midline haemangiomas in infants and cryptorchidism in males. Radiological findings are distal hypoplasia of the short humerus and femur with characteristic radial dislocation and radioulnar diastasis.

Conclusions

Based on a review of these and 16 previously reported patients, the regressive nature of the humerofemoral changes and the obvious male predominance are stressed. Phenotypic similarities with the atelosteogenesis group of disorders and with diastrophic dysplasia suggest common pathogenetic mechanisms.

Keywords

Skeleton Long bone Congenital Dysplasia Omodysplasia 

Copyright information

© Springer-Verlag 2004

Authors and Affiliations

  • Nursel H. Elçioglu
    • 1
  • Karl H. Gustavson
    • 2
  • Andrew O. M. Wilkie
    • 3
  • Memune Yüksel-Apak
    • 4
  • Jürgen W. Spranger
    • 5
    • 6
  1. 1.Department of Pediatric GeneticsMarmara University Hospital34660 IstanbulTurkey
  2. 2.Department of Clinical GeneticsUppsala University Children’s HospitalUppsalaSweden
  3. 3.Weatherall Institute of Molecular MedicineJohn Radcliffe HospitalOxfordUK
  4. 4.Institute of Child HealthUniversity of IstanbulIstanbulTurkey
  5. 5.Universitäts-Kinderklinik MainzMainzGermany
  6. 6.Greenwood Genetic CenterGreenwoodUSA

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