De Palma L, Serra F, Coletti V
Istituto di Clinica Ortopedica, Università Cattolica del S. Cuore, Roma.
Arch Putti Chir Organi Mov. 1990;38(1):207-14.
Apert's syndrome is a rare malformation (dysostosis), probably of a hereditary nature. It is characterised by craniostenosis, caused by synostosis of the coronal sutures, and by bilateral and symmetrical membranous syndactyly of the hands and feet, to which metacarpal, metatarsal and phalangeal synostoses are associated. Less frequent are dysplastic modifications in other osteo-articular regions and malformations of the viscerae. The authors expose and discuss the etiopathogenetic, clinical and radiographic aspects of this syndrome, in relation to three clinical cases which came to their observation.
阿佩尔综合征是一种罕见的畸形(骨发育异常),可能具有遗传性。其特征为冠状缝早闭导致的颅骨狭窄,以及双手和双脚的双侧对称性膜性并指(趾)畸形,同时伴有掌骨、跖骨和指(趾)骨融合。其他骨关节区域的发育异常改变和内脏畸形则较为少见。作者结合他们所观察到的三例临床病例,阐述并讨论了该综合征的病因、临床及影像学方面的情况。