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 language||English (US)|
|Number of pages||5|
|Journal||American Journal of Medical Genetics|
|Publication status||Published - 1983|
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