osteogenesis imperfecta type IV

osteogenesis imperfecta type IV

[MIM*166220]
a moderately severe form, characterized by short stature, bone fragility, preambulatory fractures, and bowing of long bones.

COL1A2

A gene on chromosome 7q21.3 that encodes the pro-alpha2 chain of type-I collagen, the triple-helix (two-alpha1, one-alpha2 chain) form of collagen found in most connective tissue and abundant in bone, cornea, dermis and tendon.

Molecular pathology
COL1A2 mutations occur in osteogenesis imperfecta types I–IV, Ehlers-Danlos syndrome type VIIB, autosomal recessive Ehlers-Danlos syndrome (classic type), idiopathic osteoporosis and atypical Marfan syndrome.

os·te·o·gen·e·sis im·per·fec·ta type IV

(os'tē-ō-jen'ĕ-sis im'pĕr-fek'tă tīp)
A moderately severe form, characterized by short stature, bone fragility, preambulatory fractures, and bowing of long bones.

os·te·o·gen·e·sis im·per·fec·ta type IV

(os'tē-ō-jen'ĕ-sis im-pĕr-fek'tă tīp) [MIM*166220]
Moderately severe form, characterized by short stature, bone fragility, preambulatory fractures, and bowing of long bones.
References in periodicals archive ?
Osteogenesis imperfecta type IV can be either a spontaneous mutation or inherited as an autosomal dominant disorder.
This child was removed from her family for 2 1/2 months prior to the skin fibroblast biopsy that proved the diagnosis of osteogenesis imperfecta type IV.
Genetic and congenital defect conditions that mimic child abuse
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