Phenotypic spectrum of charge syndrome with CHD7 mutations

被引：126

作者：

Aramaki, M

Udaka, T

Kosaki, R

Makita, Y

Okamoto, N

Yoshihashi, H

Oki, H

Nanao, K

Moriyama, N

Oku, S

Hasegawa, T

Takahashi, T

Fukushima, Y

Kawame, H

Kosaki, K

机构：

[1] Keio Univ, Sch Med, Div Med Genet, Dept Pediat,Shinjuku Ku, Tokyo 1608582, Japan

[2] Childrens Natl Med Ctr, Dept Clin Genet & Mol Med, Tokyo, Japan

[3] Asahikawa Med Coll, Dept Pediat, Asahikawa, Hokkaido 078, Japan

[4] Osaka Med Ctr, Dept Planning & Res, Osaka, Japan

[5] Res Inst Maternal & Child Hlth, Osaka, Japan

[6] Tokyo Metropolitan Kiyose Childrens Hosp, Dept Neonatol, Tokyo, Japan

[7] Tokyo Metropolitan Kiyose Childrens Hosp, Dept Cardiol, Tokyo, Japan

[8] Yamato Municipal Hosp, Dept Pediat, Kanagawa, Japan

[9] Ibaraki Childrens, Dept Pediat, Ibaraki, Japan

[10] Kagoshima City Hosp, Dept Pediat, Kagoshima, Japan

[11] Shinshu Univ, Sch Med, Dept Med Genet, Nagano, Japan

[12] Childrens Hosp, Div Clin Genet, Nagano, Japan

来源：

JOURNAL OF PEDIATRICS | 2006年 / 148卷 / 03期

关键词：

D O I：

10.1016/j.jpeds.2005.10.044

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

CHD7 gene mutations were identified in 17 (71%) of 24 children clinically diagnosed to have CHARGE syndrome (C, coloboma of the iris or retina; H, heart defects; A, atresia of the choanae; R, retardation of growth and/or development; G, genital anomalies; and E, car abnormalities). Colobomata, hearing loss, laryngomalacia, and vestibulo-cochlear defect were prevalent. Molecular testing for CHD7 enables an accurate diagnosis and provides health anticipatory guidance and genetic counseling to families with CHARGE syndrome.

引用

页码：410 / 414

页数：5

共 11 条

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