A Family of Holt-Oram Syndrome
スポンサーリンク
概要
- 論文の詳細を見る
A family of Holt-Oram syndrome is reported. Twenty of 41 living members in the last 3 generations were examined. The propositus expressed typically the cardinal features of this syndrome: atrial septal defect, patent ductus arteriosus, cardiac arrhythmias and conduction block of various types, and hypoplasia of the left thumb. Two individuals were clinically diagnosed to have atrial septal defect without any upper limb anomaly, and 3 showed upper limb anomaly without any sign of congenital heart disease. Other 5 members showed only minor abnormalities, such as funnel chest or mild right ventricular hypertrophy on ECG and VCG. Some of the skeletal abnormalities observed were hitherto undescribed ones. These include generalized hypoplasia of left hand and downward displacement of right sterno-clavicular joint.
- International Heart Journal刊行会の論文
著者
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Fujino Takehiko
First Department of Internal Medicine, Faculty of Medicine, Kyushu University
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Fukumoto Teruo
First Dept. of Internal Med. and Central Radiology, Fac. of Med., Kyushu Univ.
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Fukushima Isamu
First Dept. of Internal Med. and Central Radiology, Fac. of Med., Kyushu Univ.
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Ito Morio
Department Of Laboratory Medicine School Of Medicine Oita Medical University
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Ito Morio
First Department Of Internal Medicine Kyushu University Of Medicine
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Ito Sukenobu
First Department Of Internal Medicine Faculty Of Medicine Kyushu University
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Mashiba Hiroto
First Department Of Medicine Faculty Of Medicine Khushu University
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ITO MORIO
Kyushu Univ.
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Itoh Morio
The First Department Of Internal Medicine Faculty Of Medicine Kyushu University
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FUJINO Masanori
First Department of Internal Medicine, Faculty of Medicine, Kyushu University
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MISAWA Tadashi
First Department of Internal Medicine Faculty of Medicine, Kyushu University
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MASHIBA Hiroto
First Department of Internal Medicine and Research Institute for Angiocardiology, Faculty of Medicine, Kyushu University
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ITO Morio
First Department of Internal Medicine Faculty of Medicine, Kyushu University
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FUJINO Masanori
First Department of Internal Medicine Faculty of Medicine, Kyushu University
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FUKUMOTO Teruo
First Department of Internal Medicine Faculty of Medicine, Kyushu University
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FUJINO Takehiko
First Department of Internal Medicine Faculty of Medicine, Kyushu University
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FUKUSHIMA Isamu
First Department of Internal Medicine Faculty of Medicine, Kyushu University
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