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European Journal of Pediatrics

, Volume 151, Issue 8, pp 586–589 | Cite as

Robinow syndrome in two siblings from consanguineous parents

  • D. F. Schorderet
  • S. Dahoun
  • I. Defrance
  • D. Nusslé
  • M. A. Morris
Medical Genetics

Abstract

A Kurdish family had two children affected with Robinow syndrome. The daughter had short stature, macrocephaly, hypertelorism, hepatosplenomegaly, short forearms and marked vertebral anomalies. Her brother had hypertelorism, hypertrophied alveolar ridges, hepatosplenomegaly, short forearms, rib anomaly and ambiguous genitalia. The karyotype of the affected male sibling showed mosaicism for 45X, 46,X,dicY(q11.22), 47,X,dicY(q11.22),dicY(q11.22).

Key words

Robinow syndrome Autosomal recessive occurrence Chromosomal abnormalities Y chromosome 

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Copyright information

© Springer-Verlag 1992

Authors and Affiliations

  • D. F. Schorderet
    • 1
  • S. Dahoun
    • 1
  • I. Defrance
    • 2
  • D. Nusslé
    • 3
  • M. A. Morris
    • 1
  1. 1.Department of Microbiology and GeneticsUniversity of Geneva and Hôpital cantonal UniversitaireGenevaSwitzerland
  2. 2.Department of PaediatricsUniversity of Geneva and Hôpital cantonal UniversitaireGenevaSwitzerland
  3. 3.Department of Paediatric RadiologyUniversity of Geneva and Hôpital cantonal UniversitaireGenevaSwitzerland

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