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

✍ Scribed by Diliberti, John H. ;Weleber, Richard G. ;Budden, Sarojini ;Opitz, John M.

Publisher: John Wiley and Sons
Year: 1983
Tongue: English
Weight: 332 KB
Volume: 15
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320150315

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✦ Synopsis

We report on a 7 %-year-old boy with macrocephaly, hamartomatous intestinal polyps, and caft5-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.

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