CARDIOVASCULAR FINDINGS IN CONGENITAL CONTRACTURAL ARACHNODACTYLY - REPORT OF AN AFFECTED KINDRED
CARDIOVASCULAR FINDINGS IN CONGENITAL CONTRACTURAL ARACHNODACTYLY - REPORT OF AN AFFECTED KINDRED
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DOI：
10.1002/ajmg.1320180210
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发表时间：
1984-01-01
期刊：
影响因子：
--
通讯作者：
CAMERINIOTERO, RD
中科院分区：
文献类型：
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作者：
ANDERSON, RA;KOCH, S;CAMERINIOTERO, RD
三代亲属的病史和体格检查结果与先天性挛缩性蛛网膜下腔指（CCA）以常染色体显性遗传方式分离一致。7例受累患者中有6例经临床或超声心动图诊断为二尖瓣脱垂（MVP）。没有CCA的家庭成员没有MVP。CCA与心脏受累的关系进一步缩小了CCA与马凡氏综合征之间的区别。强调了对诊断为CCA的患者进行眼科和超声心动图随访的适应症。
Three generations of a kindred had a history and physical findings consistent with congenital contractural arachnodactyly (CCA) segregating in an autosomal-dominant manner. Six of the 7 affected patients examined had mitral valve prolapse (MVP) diagnosed clinically or by echocardiography. The family members without CCA did not have MVP. This association of cardiac involvement with CCA further lessens the distinction between CCA and the Marfan syndrome. The indication for ophthamologic and echocardiographic follow-up of patients carrying the diagnosis of CCA is stressed.