Ruvalcaba-Myhre-Smith syndrome

A case with probable autosomal-dominant inheritance and additional manifestations

J. H. DiLiberti, Richard Weleber, S. Budden

Research output: Contribution to journalArticle

37 Citations (Scopus)

Abstract

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 languageEnglish (US)
Pages (from-to)491-495
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume15
Issue number3
StatePublished - 1983
Externally publishedYes

Fingerprint

Multiple Hamartoma Syndrome
Megalencephaly
Sotos Syndrome
Intestinal Polyps
Cafe-au-Lait Spots
Penis
Polyps
Mothers

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Ruvalcaba-Myhre-Smith syndrome : A case with probable autosomal-dominant inheritance and additional manifestations. / DiLiberti, J. H.; Weleber, Richard; Budden, S.

In: American Journal of Medical Genetics, Vol. 15, No. 3, 1983, p. 491-495.

Research output: Contribution to journalArticle

@article{386dff53185a41dcb114cb3cc590c6af,
title = "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 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.",
author = "DiLiberti, {J. H.} and Richard Weleber and S. Budden",
year = "1983",
language = "English (US)",
volume = "15",
pages = "491--495",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "3",

}

TY - JOUR

T1 - Ruvalcaba-Myhre-Smith syndrome

T2 - A case with probable autosomal-dominant inheritance and additional manifestations

AU - DiLiberti, J. H.

AU - Weleber, Richard

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.

UR - http://www.scopus.com/inward/record.url?scp=0020595287&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0020595287&partnerID=8YFLogxK

M3 - Article

VL - 15

SP - 491

EP - 495

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 3

ER -