Atelosteogenesis type III: orthopedic management.
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.
Ilker A
IA
Sarikaya
Baris
B
Gorgun
Ozan A
OA
Erdal
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics / Q000601:surgery*; D002675:Child, Preschool; D005260:Female; D064448:Filamins / Q000235:genetics; D005684:Gait; D050823:Hand Joints / Q000000981:diagnostic imaging / Q000601:surgery; D006801:Humans; D007719:Knee Joint / Q000000981:diagnostic imaging / Q000601:surgery; D009154:Mutation; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics / Q000601:surgery*; D011859:Radiography; D012600:Scoliosis / Q000175:diagnosis / Q000601:surgery; D016896:Treatment Outcome; D016216:Ultrasonography, Prenatal
D064448:Filamins