Osteogenesis imperfecta type IV - moderately severe disease

Type IV osteogenesis imperfecta a moderately severe form of the condition.

Type IV is differentiated from the type I form by white sclera, and from the type III form by not being progressively deforming.

Type IV demonstrates autosomal dominant or autosomal recessive inheritance and is associated with mutations in COL1A1, COL1A2, CRTAP, FKBP10, SP7, SERPINF1, WNT1, and TMEM38B.

Notes:

• with respect to classification of osteogenesis imperfecta
  • the broad clinical and biomolecular spectrum mean that any classification is unable to be complete or accurate - however it represents a practical tool for the clinician dealing with management of patients

Reference:

1. Marom R, Rabenhorst BM, Morello R. Osteogenesis imperfecta: an update on clinical features and therapies. Eur J Endocrinol. 2020 Oct;183(4):R95-106.