Ruvalcaba-Myhre-Smith syndrome: A case with probable autosomal-dominant inheritance and additional manifestations

J. H. DiLiberti, R. G. Weleber, S. Budden

Research output: Contribution to journalArticle

37 Scopus citations

Abstract

We report on a 7 1/2 -year-old boy with macrocephaly, hamartomatous intestinal polyps, and cafe-au-lait spots on the penis. These abnormalities were reported in two other individuals thought to have the Sotos syndrome. We think that this triad of abnormalities represents a new disorder, the Ruvalcaba-Myhre-Smith syndrome. Prominent Schwalbe lines, prominent corneal nerves, and lipid storage myopathy also appear to be part of the syndrome. Macrocephaly, similar facial appearance, and a hamartomatous polyp in the mother suggest dominant inheritance.

Original languageEnglish (US)
Pages (from-to)491-495
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume15
Issue number3
DOIs
StatePublished - Jan 1 1983

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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