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

Abstract

We report on a 7 1/2‐year‐old boy with macrocephaly, hamartomatous intestinal polyps, and café‐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.