All issues > Volume 40(5); 1997

Case Report

J Korean Pediatr Soc. 1997;40(5):716-720. Published online May 15, 1997.

A Case of Spondyloepiphyseal Dysplasia Congenita

Hwang Jae HJ Yoo¹, Su Eun SE Park¹, Sang Ook SO Park¹, Jae Hong JH Park¹, Su Yung SY Kim¹

¹Department of Pediatrics, College of Medicine, Pusan National University, Pusan, Korea

Abstract

Spondyloepiphyseal dysplasia congenita is one of the osteochondrodysplasia, used to be diagnosed by clinical symptoms and radiologic findings. Clinical findings are short-trunk dwarfism, oval face, hypertelorism, short neck, kyphosis, lordosis, joint instability, coxa vara, pectus excuvatum, cleft palate, severe myopia, retinal detachment, deafness, and radiologic findings are thoracic kyphosis, lumbar lordosis, platyspondyly, anterior flaring of ribs, delayed ossification of head of humerus and femur, delayed ossification of pubic bone, short femoral neck, often metaphyseal irregularity. The etiology was known as only family disorder, at now a gene mutation of COL2A1 at chromosome 12. So it is classified as the type II collagenopathy. Authors had experienced a case of spondyloepiphyseal dysplasia congenita with clinical and radiologic findings.

Keywords :Spondyloepiphyseal dysplasia congenita