A rare form of spondylometaphyseal dysplasia-type A4.
作者信息
Duetting T, Schulze A, Troeger J, Spranger J
机构信息
Department of Pediatric Radiology, Ruprecht-Karls University, Heidelberg, Germany.
出版信息
Am J Med Genet. 1998 Jun 16;78(1):61-6. doi: 10.1002/(sici)1096-8628(19980616)78:1<61::aid-ajmg13>3.0.co;2-m.
Abstract
We present 2 cases of a previously apparently unreported spondylo-metaphyseal dysplasia comprising dwarfism, severe metaphyseal changes, ovoid vertebrae and mild platyspondyly with anterior tonguing of the vertebral bodies. The inheritance may be autosomal recessive.
摘要
Zotero 插件