Ruvalcaba-Myhre-Smith syndrome: a case with probable autosomal-dominant inheritance and additional manifestations.
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.
D002648:Child; D006222:Hamartoma / Q000150:complications*; D006257:Head / Q000002:abnormalities*; D006801:Humans; D007417:Intestinal Polyps / Q000150:complications*; D008297:Male; D010859:Pigmentation Disorders / Q000150:complications*; D013577:Syndrome; D013737:Testis