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The Coffin-Siris syndrome in two siblings

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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.

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References

  1. Coffin GS, Siris E (1970) Mental retardation with absent fifth fingernail and terminal phalanx. Am J Dis Child 119: 433

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Authors and Affiliations

  1. Servizio di Genetica Clinica Infantile Instituto di Discipline Pediatriche, Universita di Torino, Italy

    P. Franceschini, M. Cirillo Silengo, R. Bianco, M. Biagioli, A. Guala & G. Lopez Bell

  2. Servizio di Genetica Clinica Infantile, Instituto di Discipline Pediatriche Centro di Ortogenesi, Piazza Polonia 94, I-10126, Torino, Italy

    P. Franceschini

Authors
  1. P. Franceschini
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  2. M. Cirillo Silengo
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  3. R. Bianco
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  4. M. Biagioli
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  5. A. Guala
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  6. G. Lopez Bell
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Franceschini, P., Cirillo Silengo, M., Bianco, R. et al. The Coffin-Siris syndrome in two siblings. Pediatr Radiol 16, 330–333 (1986). https://doi.org/10.1007/BF02386876

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  • DOI: https://doi.org/10.1007/BF02386876

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