伴有指甲发育异常的遗传性短指畸形。
Hereditary brachydactyly with nail dysplasia.
作者信息
Schott G D
出版信息
J Med Genet. 1978 Apr;15(2):119-22. doi: 10.1136/jmg.15.2.119.
Abstract
A family is described in which sometimes asymmetrical brachydactyly, with nail dysplasia of the involved fingers, has been transmitted through 6 generations affecting 6 males and 15 females. The thumbs and feet have been normal. This previously unreported condition is inherited as an autosomal disorder with full penetrance and variable expressivity, and causes only minor inconvenience.
摘要
描述了一个家族，其中有时会出现不对称性短指畸形，受累手指伴有指甲发育异常，这种情况已在6代人中遗传，影响了6名男性和15名女性。拇指和足部正常。这种以前未报道过的病症作为一种常染色体疾病遗传，具有完全外显率和可变表达性，仅造成轻微不便。
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Hereditary brachydactyly with nail dysplasia.伴有指甲发育异常的遗传性短指症。
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本文引用的文献
1
Familial absence of middle phalanges with nail dysplasia: a new syndrome.伴有指甲发育异常的家族性中节指骨缺失：一种新综合征。
Pediatrics. 1968 Aug;42(2):318-23.
2
Brachydactyly with absence of middle phalanges and hypoplastic nails. A new hereditary syndrome.
J Bone Joint Surg Br. 1971 Feb;53(1):101-5.
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