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 COL1A1 at chromosome 12. So it is classified as the type Ⅱcollagenopathy.
Authors
had experienced a case of spondyloepiphyseal dysplasia congenita with clinical and radiologic findings.
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