Osteogenesis imperfect (OI) is a heterogeneous and complex connective tissue disorder that manifests with low bone density and fragility. More than 15 types of OI have been distinguished on a clinical and molecular basis, but the classical clinical classification previously proposed in Types 1-4 with the recent inclusion of Type 5 appears to be more suitable. The diagnosis is mainly made on clinical and radiographic findings with fractures caused by mild trauma, bowing deformities of long bones, and growth deficiency. Non-skeletal features of the disorder include blue sclerae, hearing loss, decreased pulmonary function, cardiac valvular regurgitation, and muscle weakness.

Early Motor Delay: An Outstanding, Initial Sign of Osteogenesis Imperfecta Type 1

Pavone, Vito;Mattina, Teresa;Pavone, Piero;Falsaperla, Raffaele;Testa, Gianluca
2017-01-01

Abstract

Osteogenesis imperfect (OI) is a heterogeneous and complex connective tissue disorder that manifests with low bone density and fragility. More than 15 types of OI have been distinguished on a clinical and molecular basis, but the classical clinical classification previously proposed in Types 1-4 with the recent inclusion of Type 5 appears to be more suitable. The diagnosis is mainly made on clinical and radiographic findings with fractures caused by mild trauma, bowing deformities of long bones, and growth deficiency. Non-skeletal features of the disorder include blue sclerae, hearing loss, decreased pulmonary function, cardiac valvular regurgitation, and muscle weakness.
2017
COLI AI gene; Osteogenesis imperfecta; infantile hypotonia; motor delay; muscle involvement
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.11769/315499
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