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  • Title: Spondylo-epi-metaphyseal dysplasia with normal stature: a case followed from infancy to skeletal maturity.
    Author: Nakamura S, Haga N, Shimode M, Taniguchi K, Ikegawa S, Iwaya T.
    Journal: Clin Dysmorphol; 1999 Jul; 8(3):189-92. PubMed ID: 10457852.
    Abstract:
    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.
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