Spondylo-epi-metaphyseal dysplasia with normal stature

Spondylo-epi-metaphyseal dysplasia is a rare skeletal dysplasia showing radiographic abnormalities in the epiphyses and metaphyses of the long and short tubular bones, and in the spine. There are very few reports of a case followed throughout the entire growth period. Here we report the case of a Japanese girl followed from 1 month old to skeletal maturity at 16 years old. She developed progressive kyphoscoliosis at 7 years old, and underwent a surgical correction of the spine at 14 years old. The diagnosis of spondylo-epi-metaphyseal dysplasia was made from examining all the follow-up radiographs showing abnormalities in the spine, long bones and hands involving epiphyses and metaphyses. She had normal stature--a rare finding in this condition.