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Atelosteogenesis type III: orthopedic management

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Atelosteogenesis type III is a rare autosomal dominant skeletal dysplasia caused by mutations in the synthesis of the protein filamin B (FLNB). The mutation in the gene coding for FLNB causes the osteochondrodysplastic features of this disorder. Clinically, osteochondrodysplasia causes unbalanced skeletal maturation and absent or mostly hypoplastic bones, such as the pelvis, vertebrae, ribs, or long bones. In the literature, an orthopedic management for this disorder has not been well described. We report the case and orthopedic management of a 6-year-old female patient with atelosteogenesis type III after 3 years of follow-up.
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Keywords: atelosteogenesis; filamin B gene defect; osteochondrodysplasia; skeletal dysplasia

Document Type: Research Article

Affiliations: 1: Ortopediatri Clinic 2: Department of Orthopaedics and Traumatology, Ortopediatri Clinic, Sisli, Istanbul, Turkey

Publication date: November 1, 2017

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