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Pediatric Radiology

, Volume 16, Issue 4, pp 330–333 | Cite as

The Coffin-Siris syndrome in two siblings

  • P. Franceschini
  • M. Cirillo Silengo
  • R. Bianco
  • M. Biagioli
  • A. Guala
  • G. Lopez Bell
Short Reports

Abstract

Two sisters with Coffin-Siris syndrome, born to healthy unrelated parents, are reported. The accurate X-ray evaluation of the two patients allows the identification of some new features and a better delineation of the radiological phenotype. Our two cases confirm the proposed autosomal recessive inheritance of the syndrome.

Keywords

Public Health Autosomal Recessive Inheritance Good Delineation Unrelated Parent Healthy Unrelated Parent 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. 1.
    Coffin GS, Siris E (1970) Mental retardation with absent fifth fingernail and terminal phalanx. Am J Dis Child 119: 433PubMedGoogle Scholar
  2. 2.
    Carey JC (1978) The Coffin-Siris syndrome. Am J Dis Child 132: 667PubMedGoogle Scholar
  3. 3.
    Barber N, Say B (1978) Coffin-Siris syndrome. Am J Dis Child 132: 1044PubMedGoogle Scholar

Copyright information

© Springer-Verlag 1986

Authors and Affiliations

  • P. Franceschini
    • 1
    • 2
  • M. Cirillo Silengo
    • 1
  • R. Bianco
    • 1
  • M. Biagioli
    • 1
  • A. Guala
    • 1
  • G. Lopez Bell
    • 1
  1. 1.Servizio di Genetica Clinica Infantile Instituto di Discipline PediatricheUniversita di TorinoItaly
  2. 2.Servizio di Genetica Clinica InfantileInstituto di Discipline Pediatriche Centro di OrtogenesiTorinoItaly

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