TY - JOUR
T1 - Ruvalcaba-Myhre-Smith syndrome
T2 - A case with probable autosomal-dominant inheritance and additional manifestations
AU - DiLiberti, J. H.
AU - Weleber, R. G.
AU - Budden, S.
PY - 1983
Y1 - 1983
N2 - 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.
AB - 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.
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U2 - 10.1002/ajmg.1320150315
DO - 10.1002/ajmg.1320150315
M3 - Article
C2 - 6881215
AN - SCOPUS:0020595287
SN - 0148-7299
VL - 15
SP - 491
EP - 495
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 3
ER -