Article
Spondyloepimetaphyseal dysplasia, short limb-abnormal calcifications type: progressive radiological findings from fetal age to adolescence.
Pediatric radiology - 1 Oct 2011
Rozovsky Katya, Sosna Jacob, Le Merrer Martine, Simanovsky Natalia, Koplewitz Benjamin Z, Bar-Ziv Jacob, Cormier-Daire Valerie, Raas-Rothschild Annick
Abstract excerpt
BACKGROUND: Spondyloepimetaphyseal dysplasia, short limb-abnormal calcifications type (SEMD, SL-AC) is a rare autosomal recessive condition with a grave prognosis. OBJECTIVE: We aimed to describe the progression of symptoms from fetal age to adolescence in SMED, SL-AC patients. MATERIALS AND METHODS: We retrospectively evaluated radiological findings on plain films, CT and MRI for eight children with genetically...
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