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Atelosteogenesis type III

orthopedic management

Sarikaya, Ilker A.a; Gorgun, Barisb; Erdal, Ozan A.a

Journal of Pediatric Orthopaedics B: November 2017 - Volume 26 - Issue 6 - p 546–551
doi: 10.1097/BPB.0000000000000338
SKELETAL DYSPLASIAS
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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.

aOrtopediatri Clinic

bDepartment of Orthopaedics and Traumatology, Ortopediatri Clinic, Sisli, Istanbul, Turkey

Correspondence to Ozan A. Erdal, MD, Ortopediatri Clinic, Hakkı Yeten St. Unimed Center no:19, 9th floor, Sisli, Istanbul 34365, Turkey Tel: +90 535 835 6626; fax: +90 212 232 1034; e-mail: ozanaerdal@yahoo.com

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