常染色体显性胸喉盆腔发育不良：巴恩斯综合征。
Autosomal dominant thoracolaryngopelvic dysplasia: Barnes syndrome.
作者信息
Burn J, Hall C, Marsden D, Matthew D J
出版信息
J Med Genet. 1986 Aug;23(4):345-9. doi: 10.1136/jmg.23.4.345.
Abstract
We review a family in which a mother and two of her three children suffered a distinct syndrome of thoracic dystrophy with small chest volume, laryngeal stenosis, normal stature with variable asymmetry, asthenic build, and a small pelvis. In addition to the different inheritance pattern, this syndrome is distinguished from the better known Jeune syndrome by the differing thoracic and pelvic configuration.
摘要
我们报告了一个家族，该家族中一位母亲及其三个孩子中的两个患有一种独特的胸廓发育不良综合征，其特征为胸腔容积小、喉狭窄、身材正常但有不同程度的不对称、体质虚弱以及骨盆小。除了不同的遗传模式外，该综合征与更为人熟知的Jeune综合征的区别还在于胸廓和骨盆的形态不同。
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本文引用的文献
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[Asphyxiating thoracic dystrophy with familial characteristics].[具有家族特征的窒息性胸廓发育不良]
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Thoracic-pelvic dysostosis: a 'new' autosomal dominant form.胸-骨盆发育不全：一种“新的”常染色体显性形式。
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Chest reconstruction in thoracic dystrophy.胸廓发育不良综合征中的胸廓重建
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