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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Abbreviations
- VER:
-
visual evoked responses
References
Hunter AGW, McAlpine PJ, Rudd NL, Fraser FC (1977) A “new” syndrome of mental retardation with characteristic facies and brachyphalangy. J Med Genet 14: 430–437
Ruvalcaba RHA, Reichert A, Smith DW (1971) A new familial syndome with osseous dysplasia and mental deficiency. J Pediatr 79: 450–455
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Bianchi, E., Livieri, C., Arico, M. et al. Ruvalcaba syndrome: a case report. Eur J Pediatr 142, 301–303 (1984). https://doi.org/10.1007/BF00540259
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DOI: https://doi.org/10.1007/BF00540259