Spondylo-epi-metaphyseal dysplasia with normal stature: a case followed from infancy to skeletal maturity.
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.
Nakamura
S
S
Shizuoka Children's Hospital, Japan. nakamura@med.teikyo-u.ac.jp
Haga
N
N
Shimode
M
M
Taniguchi
K
K
Ikegawa
S
S
Iwaya
T
T
D000293:Adolescent; D001827:Body Height; D001846:Bone Development; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000473:pathology*; D011859:Radiography