Autosomal dominant congenital epiphyseal dysplasia limited to the femoral heads.
作者信息
Hernández A, Nazara Z, Reynoso M C, Lizcano-Gil L A, Lopez R, Sarralde A, Fragoso R
机构信息
División de Genética, Centro de Investigation Biomédica de Occidente, Coordinatión de Investigación Medica, Guadalajara, México.
出版信息
Genet Couns. 1996;7(3):187-91.
PMID:8897039
Abstract
A father and son with unusual congenital skeletal symptoms, mainly characterized by short stature and epiphyseal dysplasia limited to the femoral heads are described. The comparative analysis with other spondyloepiphyseal dysplasias supports the notion that the syndrome reported here is a distinct autosomal dominant connective tissue disorder.
摘要
Zotero 插件