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[毛发-鼻-指(趾)综合征。4例家族病例]

[Tricho-rhino-phalangeal syndrome. Four family cases].

作者信息

Cottin S, Le Gall G, Lorgeas J M

出版信息

Rev Rhum Mal Osteoartic. 1980 Mar;47(3):169-73.

PMID:7384726
Abstract

The tricho-rhino-phalangeal syndrome was described in 1966 by Giedion. It is a hereditary disease with a dominant autosomic transmission. The authors describe a family with 7 cases, 4 of which were thoroughly studied. No chromosomic or biochemical error is known. However, x-rays of a young man in this family led us to classify this anomaly among the minor epiphyseal dysplasias related to the peripheral dysostosis of Braislford and clearly distinct Thieman's disease acquired by manual labor.

摘要

毛发-鼻-指(趾)综合征于1966年由吉迪恩首次描述。它是一种常染色体显性遗传的遗传性疾病。作者描述了一个有7例患者的家族,其中4例进行了详细研究。目前尚未发现染色体或生化方面的异常。然而,对该家族中一名年轻男子的X线检查结果使我们将这种异常归类为与布雷斯福德周围发育异常相关的轻度骨骺发育不良,且明显不同于因体力劳动所致的蒂曼病。

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