Osteogenesis imperfecta Q78.0

Ekman 1788; Sartorius 1826; Lobstein 1849; Vrolik 1849;

Very variable, hereditary connective tissue disease caused by various defects of type 1 collagen, characterized by brittle bones, blue sclerae and numbness.

A distinction is made between:

• OI type I (formerly osteogenesis imperfecta tarda, Lobstein type; manifestation in infancy to early childhood).
• OI type II
• OI type III (formerly osteogenesis imperfecta congenita, Vrolik type, or Vrolik syndrome;
• fractures already in utero)
• OI type IV
• OI type V
• OI type VI
• OI type VII

Note: Osteogenesis imperfecta/Ehlers-Danlos (OI/EDS) overlap syndrome is a connective tissue disorder characterized by a mutation of the COL1A1 (17q21.33) or COL1A2 (7q21.3) genes involved in the alpha-1 and alpha-2 chains of type 1 collagen synthesis.The clinical spectrum of this clinical entity has features of both osteogenesis imperfecta (bone fragility, long bone fractures, blue sclerae, short stature) and Ehlers-Danlos syndrome (hyperextensibility of joints, soft and hyperextensible skin, abnormal wound healing, easy bruising, vascular fragility).

Autosomal dominant, rare autosomal recessive inheritance. Mutations are present that relate to the alpha-1 or alpha-2 chain of collagen I. Further mutations for various proteins have been detected.

Congenital or occurring in early childhood. The prevalence of about 1,15,000 births.

Blue sclerae, brittle bones with fractures, thin, hyperextensible skin, macular skin atrophies, broadly extended scars, numbness.

Other symptoms include loose joints (joint capsules, ligaments, ligaments)

and

tooth deformities due to dentin formation disorders (dentinogenesis imperfecta).

1. Axmann von Wertheim E (1831) Strange fragility of bones without dyscrastic cause as a pathological peculiarity of three siblings. Ann complete Heilk (Karlsruhe) 4: 58-68
2. Ekman PJ (1788) Dissertatio medica descriptionem et casus aliquot osteomalaciæ sistens. J. Edman, Upsaliae
3. Kindelan J et al (2003) Orthodontic and orthognathic management of a patient with osteogenesis imperfecta and dentinogenesis imperfecta: a case report. J Orthodontic 30: 291-296
4. Lobstein JF (1833) De la fragilité des os, ou l'ostéopsathyrose. Traité de l?anatomie pathologique: 2: 204-212
5. Ries-Levavi et al (2004) Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients. Hum Mutate 23: 399-400
6. Sartorius CF (1826) Rachitides congenitae observationes. Dissertation, Medical Faculty of the University of Leipzig
7. Spurway J (1896) Hereditary tendency to fracture. Br Med J (London) 2: 844
8. Stilling H (1889) Osteogenesis imperfecta. Virchows Arch pathol Anat Physiol klin Medicin (Berlin) 115: 357
9. Vrolik W (1849) Tabulae ad illustrandam embryogenesin hominis et mammalium, tam naturalem quam abnormem. Weigel, Londinck, Lipsiae