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牙关紧闭-假性弯曲指综合征

The trismus-pseudocampylodactyly syndrome.

作者信息

ter Haar B G, van Hoof R F

出版信息

J Med Genet. 1974 Mar;11(1):41-9. doi: 10.1136/jmg.11.1.41.

Abstract

A new family with the combination of trismus and curvature of the fingers on dorsiflexion of the wrist is described. Data from 24 affected members of this family make it likely that the measurements of mouth opening and of wrist angles are sufficient to recognize the syndrome. The affected persons also show a mild degree of short stature but only when compared with their unaffected sibs of the same sex. In the pronounced cases of trismus the coronoid process is enlarged by the extensive pull of the temporal muscle tendon unit which decreases the mandibular excursion. Surgical correction of the enlarged coronoid process may then be necessary. The variable expressivity of this autosomal dominant trait makes it most likely that the phenotypes in the families described hitherto are due to the same mutation.

摘要

本文描述了一个新的家族,该家族成员存在牙关紧闭以及手腕背屈时手指弯曲的症状。对该家族24名患病成员的数据研究表明,测量张口度和手腕角度足以识别该综合征。与同性别的未患病同胞相比,患病者还表现出轻度身材矮小。在牙关紧闭症状明显的病例中,颞肌腱单位的广泛牵拉会使冠状突增大,从而减少下颌运动。此时可能需要对增大的冠状突进行手术矫正。这种常染色体显性性状的可变表达性很可能使得迄今为止所描述的家族中的表型均由同一突变所致。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0074/1013087/caf2f6f00e6b/jmedgene00318-0048-a.jpg

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