伴有面部异常及可能常染色体隐性遗传的菱脑融合：一例报告

Rhombencephalosynapsis with facial anomalies and probable autosomal recessive inheritance: a case report.

作者信息

Romanengo M, Tortori-Donati P, Di Rocco M

机构信息

2nd Department of Pediatrics, G. Gaslini Institute, Genova, Italy.

出版信息

Clin Genet. 1997 Sep;52(3):184-6. doi: 10.1111/j.1399-0004.1997.tb02542.x.

DOI:10.1111/j.1399-0004.1997.tb02542.x

PMID:9377810

Abstract

We report a 16-year-old boy, born to consanguineous parents, with mental retardation, gait disturbances and dysarthria; brain magnetic resonance showed features consistent with rhombencephalosynapsis. This condition is characterised by a hypoplastic single-lobed cerebellum. The interest of this case is the presence of common ancestors, pointing to an autosomal recessive inheritance of the malformation.

摘要

我们报告了一名16岁男孩，其父母为近亲结婚，该男孩患有智力障碍、步态障碍和构音障碍；脑部磁共振成像显示的特征与 rhombencephalosynapsis（菱形脑联）相符。这种病症的特点是小脑发育不全且呈单叶状。该病例的关注点在于存在共同祖先，提示这种畸形为常染色体隐性遗传。