Simpson-Golabi-Behmel syndrome with severe cardiac arrhythmias.
Simpson-Golabi-Behmel syndrome with severe cardiac arrhythmias.
复制标题
辛普森-戈拉比-贝梅尔综合征伴严重心律失常。
DOI：
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发表时间：
1991
期刊：
影响因子：
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通讯作者：
U. Langenbeck
中科院分区：
文献类型：
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作者：
R. König;S. Fuchs;C. Kern;U. Langenbeck
我们报告了一个家庭与2受影响的男性与X连锁golabi-Behmel（SGB）综合征。先证者为一名33岁男性，出生前后生长过度，“粗糙”面伴间距过宽，宽鼻、宽口、牙齿错位、粘膜下裂、副乳头、宽手伴食指指甲发育不良，左轴后六指（趾）畸形。从26岁起，他患有严重的快速性心律失常，需要反复除颤。先证者的兄弟在出生时是巨大的，有着相似的面部外观。此外，他有幽门狭窄和3/6收缩期杂音。他在4个月大时去世。心脏缺陷和传导障碍是SBG综合征的主要组成部分，可能导致婴儿早期死亡，也可能导致成人心脏骤停。
We report on a family with 2 affected males with the X-linked Simpson-Golabi-Behmel (SGB) syndrome. The propositus was a 33-year-old man with pre- and postnatal overgrowth, "coarse" face with hypertelorism, broad nose, wide mouth, malposition of teeth, submucous cleft, accessory nipples, broad hands with hypoplastic index finger nails, and operated left postaxial hexadactyly. From the age of 26 years he suffered from severe tachyarrhythmias, requiring recurrent defibrillations. The brother of the propositus was macrosomic at birth and had a similar facial appearance. In addition he had a pyloric stenosis and a 3/6 systolic murmur. He died at age 4 months. Cardiac defects and conduction disturbances are major components of the SBG syndrome and can be responsible for death in early infancy and perhaps for cardiac arrest in the adult.