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Aortic aneurysm and craniosynostosis in a family with Cantu syndrome
Author(s) -
Hiraki Yoko,
Miyatake Satoko,
Hayashidani Michiko,
Nishimura Yutaka,
Matsuura Hiroo,
Kamada Masahiro,
Kawagoe Takuji,
Yunoki Keiji,
Okamoto Nobuhiko,
Yofune Hiroko,
Nakashima Mitsuko,
Tsurusaki Yoshinori,
Satisu Hirotomo,
Murakami Akira,
Miyake Noriko,
Nishimura Gen,
Matsumoto Naomichi
Publication year - 2014
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36228
Subject(s) - craniosynostosis , aneurysm , medicine , cardiology , anatomy , surgery
Cantu syndrome is an autosomal dominant overgrowth syndrome associated with facial dysmorphism, congenital hypertrichosis, and cardiomegaly. Some affected individuals show bone undermodeling of variable severity. Recent investigations revealed that the disorder is caused by a mutation in ABCC9 , encoding a regulatory SUR2 subunit of an ATP‐sensitive potassium channel mainly expressed in cardiac and skeletal muscle as well as vascular smooth muscle. We report here on a Japanese family with this syndrome. An affected boy and his father had a novel missense mutation in ABCC9 . Each patient had a coarse face and hypertrichosis. However, cardiomegaly was seen only in the boy, and macrosomia only in the father. Skeletal changes were not evident in either patient. Craniosynostosis in the boy and the development of aortic aneurysm in the father are previously undescribed associations with Cantu syndrome. © 2013 Wiley Periodicals, Inc.