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Sponastrime dysplasia: Report on two sibling with mental retardation

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Abstract

We report on two sisters in the third family affected withSponastrime dysplasia. The clinical and radiological features are presented. The two patients showed severe mental retardation. The pattern of inheritance of this rare dysplasia is discussed.

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References

  1. Fanconi S, Issler C, Giedion A, Prader A (1983) The Sponastrime dysplasia: familial short-limb dwarfism with saddle nose, spine alterations and metaphyseal striation. Helv Paediatr Acta 38: 267–280

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Authors and Affiliations

  1. Centre for Human Genetics, Galliera Hospital, Mura delle Cappuccine 14, I-16128, Genoa, Italy

    G. Camera

  2. Department of Orthopaedics, Genoa University, Genoa, Italy

    A. Camera

  3. Division of Paediatrics, Gaslini Institute, Genoa, Italy

    M. Di Rocco & R. Gatti

Authors
  1. G. Camera
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  2. A. Camera
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  3. M. Di Rocco
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  4. R. Gatti
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Camera, G., Camera, A., Di Rocco, M. et al. Sponastrime dysplasia: Report on two sibling with mental retardation. Pediatr Radiol 23, 611–614 (1993). https://doi.org/10.1007/BF02014981

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  • DOI: https://doi.org/10.1007/BF02014981

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