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.