一个日本家庭中的牙关紧闭-假性屈曲指综合征
Trismus-pseudocamptodactyly syndrome in a Japanese family.
作者信息
Tsukahara M, Shinozaki F, Kajii T
出版信息
Clin Genet. 1985 Sep;28(3):247-50. doi: 10.1111/j.1399-0004.1985.tb00394.x.
Abstract
A family in which five individuals through three generations were affected with trismus-pseudocamptodactyly syndrome is reported. The propositus, an 8-year-old boy, had a right embedded ear, inability to open the mouth fully, pseudocamptodactyly and soft tissue syndactyly of the toes. His paternal grandmother, father, paternal uncle and his paternal cousin had pseudocamptodactyly. The occurrence of the syndrome in this Japanese family indicates that the syndrome is not exclusively of Dutch origin.
摘要
报告了一个三代五人患牙关紧闭-假性并指趾畸形综合征的家族。先证者是一名8岁男孩，有右耳内陷、无法完全张口、假性并指趾畸形以及脚趾软组织并指。他的祖母、父亲、叔叔和堂兄都有假性并指趾畸形。该综合征在这个日本家族中的出现表明，该综合征并非仅起源于荷兰。
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Trismus-pseudocamptodactyly syndrome in a Japanese family.一个日本家庭中的牙关紧闭-假性屈曲指综合征
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