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Ruvalcaba-Myhre-Smith syndrome

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A syndrome combining the principal elements of the Sotos syndrome (cerebral gigantism) with intestinal polyposis and pigmented lesions (café-au-lait spots) on the penis. There is severe mental deficiency, macrosomy, and macroencephaly. Reported also myopathy. Etiology unknown. Both sexes. From Birth. Autosomal dominant inheritance.

D. Harris and William R. Smith, Oklahoma, in 1960 described a mother and four of her seven children with the triad of macrocephaly, pseudopapilledema, and multiple haemangiomas. G. A. Bannayan in 1971 described a single case with macrocephaly and multiple lipomas and haemangiomas. R. Ruvalcaba, S. Myhre, and David W. Smith, paediatricians, Seattle, in 1980 described two patients with macrocephaly, intestinal polyposis and spotted pigmentation of the shaft of penis.


  • R. H. A. Ruvalcaba, S. Myhre, D. W. Smith:
    Sotos syndrome with intestinal polyposis and pigmentary changes of the genitals.
    Clinical Genetics, Copenhagen, 1980, 18: 413-416.
  • J. H. Di Liberti, A. N. D'Agostino, R. H. A. Ruvalkaba et al:
    A new lipid storage myopathy observed in individual with the Ruvalcaba-Myhre Smith syndrome.
    American Journal of Medical Genetics, New York, 1984, 18: 163-167.

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