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瓦登伯格综合征与家族性周期性瘫痪。

Waardenburg's syndrome and familial periodic paralysis.

作者信息

Tay C H

出版信息

Postgrad Med J. 1971 Jun;47(548):354-60. doi: 10.1136/pgmj.47.548.354.

Abstract

Nine members in three generations of a Chinese family were found to have Waardenburg's syndrome comprising, mainly, lateral displacement of the inner canthi, broadening of the nasal root and hypertrichosis of the eyebrows. Other minor features were also found. Two patients had in addition, hypokalemic periodic paralysis of the familial type, one had prominent frontal bossing and another, bilateral cleft lips and palate. These associated anomalies have not been previously documented and the presence of two autosomal dominant genetic defects in this family is of particular interest.

摘要

在中国一个家族的三代人中,发现有9名成员患有瓦登伯革氏综合征,主要表现为内眦向外移位、鼻根增宽和眉毛多毛症。还发现了其他一些轻微特征。另外,两名患者患有家族性低钾性周期性麻痹,一名患者有明显的额部隆突,另一名患者有双侧唇腭裂。这些相关的异常情况以前未见文献记载,该家族中存在两种常染色体显性遗传缺陷尤其令人关注。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1183/2466925/48e6d09eb627/postmedj00342-0047-a.jpg

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