osteogenesis imperfecta congenita


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osteogenesis imperfecta congenita

[MIM*166210]
a severe form [MIM 166230], with fractures occurring before or at birth.

os·te·o·gen·e·sis im·per·fec·ta con·gen·i·ta

(ostē-ō-jenĕ-sis impĕr-fektă kŏn-jeni-tă)
Any of various genetic disorders in the biosynthesis of collagen resulting in abnormal fragility and plasticity of bone, with recurrent fractures after mild trauma; may also result in deformity of long bones, coloration of sclerae, laxity of ligaments, and otosclerosis.

os·te·o·gen·e·sis im·per·fec·ta con·gen·i·ta

(ostē-ō-jenĕ-sis impĕr-fektă kŏn-jeni-tă) [MIM*166210]
Severe form with fractures occurring before or at birth.