Killian, W.

  • Peter Beighton
  • Greta Beighton


Pallister-Killian syndrome comprises mental retardation, multiple congenital anomalies, short limbs and a coarse facies. The condition results from isochromosome 12p mosaicism.


Retinitis Pigmentosa Severe Mental Retardation Multiple Congenital Anomaly Progressive External Ophthalmoplegia Autosomal Recessive Trait 
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  1. Killian W, Zonana J, Schroer R (1983) Abnormal hair, craniofacial dysmorphism and severe mental retardation — a new syndrome? J Clin Dysmorphol 1: 6–13PubMedGoogle Scholar

Copyright information

© Springer-Verlag London Limited 1997

Authors and Affiliations

  • Peter Beighton
    • 1
  • Greta Beighton
    • 1
  1. 1.Department of Human GeneticsUniversity of Cape Town Medical SchoolSouth Africa

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