European Journal of Pediatrics

, Volume 128, Issue 1, pp 27–31 | Cite as

Multiple skeletal anomalies in the “13q-” syndrome

  • J. Chemke
  • E. Fishel
  • M. Zalish
  • M. Sagiv
Original Investigations

Abstract

A patient with the “13q-” syndrome is reported. The typical association of congenital malformations was found. Multiple and unusual skeletal anomalies included absent thumbs, club-feet, coxa vara, diastasis of the pubic symphisis and extensive spina bifida occulta. These appear to be part of the multiple system involvement due to the chromosomal deletion. Chromosome analysis is indicated in patients with multiple skeletal anomalies, especially if the thumbs and radial axis are involved.

Key words

Skeletal anomalies Chromosome abnormalities Chromosome 13 Long arm deletion 

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Copyright information

© Springer-Verlag 1978

Authors and Affiliations

  • J. Chemke
    • 1
  • E. Fishel
    • 2
  • M. Zalish
    • 3
  • M. Sagiv
    • 4
  1. 1.Clinical Genetics UnitKaplan HospitalRehovotIsrael
  2. 2.Department of RoentgenologyKaplan HospitalRehovotIsrael
  3. 3.Department of OphthalmologyKaplan HospitalRehovotIsrael
  4. 4.Department of PathologyKaplan HospitalRehovotIsrael

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