先天性脊椎骨骺发育不良。致死性新生儿侏儒症的一个病因。

Spondyloepiphyseal dysplasia congenita. A cause of lethal neonatal dwarfism.

作者信息

Macpherson R I, Wood B P

出版信息

Pediatr Radiol. 1980 Jul;9(4):217-24. doi: 10.1007/BF01092948.

Abstract

Spondyloepiphyseal dysplasia congenita is a form of primary short dwarfism, that is manifest at birth generally has not been regarded as a cause of lethal neonatal dwarfism. Seven neonates with severe dwarfism are presented. The first survived the newborn period, but the other six were early neonatal deaths. All displayed the clinical and radiologic features of spondyloepiphyseal dysplasia congenita. The striking similarities between spondyloepiphyseal dysplasia congenita and achondrogenesis type 2 are discussed.

摘要

先天性脊柱骨骺发育不良是原发性短肢侏儒症的一种形式，通常在出生时就表现出来，一般不被视为致死性新生儿侏儒症的病因。本文报道了7例严重侏儒症新生儿。其中1例存活至新生儿期，其余6例为早期新生儿死亡。所有患儿均表现出先天性脊柱骨骺发育不良的临床和放射学特征。文中讨论了先天性脊柱骨骺发育不良与2型软骨发育不全之间的显著相似之处。