A case with spondylo-metaphyseal dysplasia type A4.
We present a case with spondylo-metaphyseal dysplasia type A4 characterized by ovoid vertebral bodies with anterior tongue-like deformities, widened irregular and sclerotic metaphyseal changes, short iliac wings, slightly short long bones and short tubular bones of the hands with irregular metaphyses. She also had bipartite trochlea and irregular patellar margins, which have not been described in spondylo-metaphyseal dysplasia types to date.
Percin
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EF
Cumhuriyet University, Faculty of Medicine, Department of Medical Biology and Genetics, Sivas, Turkey. ferdaep@yahoo.com
Tukenmez
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Percin
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D002675:Child, Preschool; D002871:Chromosome Banding; D005260:Female; D006025:Glycosaminoglycans / Q000652:urine; D006801:Humans; D007085:Ilium / Q000002:abnormalities / Q000000981:diagnostic imaging; D007621:Karyotyping; D007738:Kyphosis / Q000235:genetics; D010009:Osteochondrodysplasias / Q000145:classification* / Q000000981:diagnostic imaging / Q000235:genetics*; D011859:Radiography
D006025:Glycosaminoglycans