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[Congenital spondyloepiphyseal dysplasia. Apropos of a case].

作者信息

Guízar Vázquez J, Arredondo Vega F, Manzano C, Armendares S

出版信息

Bol Med Hosp Infant Mex. 1978 Nov-Dec;35(6):1061-7.

PMID:99148
Abstract

The present paper describes a case of spondyloepiphyseal dysplasia congenita (S.D.C.), a heritable bone dysplasia manifested at birth and characterized by short stature and retarded ossification of vertebral bodies, pelvis and extremities. Differential diagnosis which is important for genetic counselling purposes is established between S.D.C. and Morqu's disease, diastrophic dwarfism, metatropic dwarfism, psuedoachondroplasia and hypoachondroplasia.

摘要

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