| A Case of Spondyloepiphyseal Dysplasia Congenita |
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Hwang Jae Yoo, Su Eun Park, Sang Ook Park, Jae Hong Park, Su Yung Kim |
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Department of Pediatrics, College of Medicine, Pusan National University, Pusan, Korea |
| 선천성 척추 골단 이형성증 1례 |
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유황재, 박수은, 박상욱, 박재홍, 김수영 |
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부산의대 소아과학교실 |
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| Abstract |
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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. |
| Key Words:
Spondyloepiphyseal dysplasia congenita |
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