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三代人中出现室性早搏伴晕厥发作、多指(趾)畸形和小下颌畸形依次出现:一种新的遗传性MCA综合征?

Ventricular extrasystoles with syncopal episodes, perodactyly, and Robin in sequence in three generations: a new inherited MCA syndrome?

作者信息

Stoll C, Kieny J R, Dott B, Alembik Y, Finck S

机构信息

Institut de Puériculture, Centre Hospitalo-Universitaire, Strasbourg, France.

出版信息

Am J Med Genet. 1992 Feb 15;42(4):480-6. doi: 10.1002/ajmg.1320420413.

Abstract

We observed the combination of the Robin sequence with perodactyly (hypoplasia and/or agenesis of the distal phalanx of the toes) and cardiac arrhythmia (ventricular extrasystoles occurring as bigemini or multifocal tachycardia with syncopal episodes) in 6 relatives in 3 generations. This familial association has not been reported before and probably represents a previously unrecognized heritable malformation syndrome.

摘要

我们在3代中的6名亲属中观察到罗宾序列征与多指(趾)畸形(趾骨远端发育不全和/或发育不全)及心律失常(室性期前收缩呈二联律或多灶性心动过速并伴有晕厥发作)并存的情况。这种家族关联此前尚未见报道,可能代表一种此前未被认识的遗传性畸形综合征。

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