A Case of Spondyloepiphyseal Dysplasia Congenita.
- Author:
Hwang Jae YOO
1
;
Su Eun PARK
;
Sang Ook PARK
;
Jae Hong PARK
;
Su Yung KIM
Author Information
1. Department of Pediatrics, College of Medicine, Pusan National University, Pusan, Korea.
- Publication Type:Case Report
- Keywords:
Spondyloepiphyseal dysplasia congenita
- MeSH:
Animals;
Chromosomes, Human, Pair 12;
Cleft Palate;
Coxa Vara;
Deafness;
Dwarfism;
Femur;
Femur Neck;
Genes, vif;
Head;
Humans;
Humerus;
Hypertelorism;
Joint Instability;
Kyphosis;
Lordosis;
Myopia;
Neck;
Osteochondrodysplasias*;
Pubic Bone;
Retinal Detachment;
Ribs
- From:Journal of the Korean Pediatric Society
1997;40(5):716-720
- CountryRepublic of Korea
- Language:Korean
-
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.
