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Case Reports
. 1984 Sep;142(4):301-3.
doi: 10.1007/BF00540259.

Ruvalcaba syndrome: a case report

E Bianchi, C Livieri, M Arico, E Cattaneo, A F Podesta, G Beluffi
Case Reports

Ruvalcaba syndrome: a case report

E Bianchi et al. Eur J Pediatr. 1984 Sep.

Abstract

An 11-year-old child with mental retardation and short stature was examined and found to be affected with some skeletal malformations. The clinical and radiological pattern of limb alterations was particularly suggestive of the features of Ruvalcaba syndrome. A complete examination confirmed the diagnosis and showed ocular involvement. To the best of our knowledge this is first published confirmation of Ruvalcaba syndrome.

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References

    1. J Med Genet. 1977 Dec;14(6):430-7 - PubMed
    1. J Pediatr. 1971 Sep;79(3):450-5 - PubMed

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