Home | | Medicine and surgery: Principles and practice of medicine and surgery | Osteogenesis imperfecta - Genetic musculoskeletal disorders

Chapter: Medicine and surgery: Musculoskeletal system

Osteogenesis imperfecta - Genetic musculoskeletal disorders

A heterogenous disorder with brittle bones and involvement of other collagen containing connective tissue. - Definition, Incidence, Aetiology, Pathophysiology, Clinical features, Complications, Investigations, Management, Prognosis.

Osteogenesis imperfecta

 

Definition

 

A heterogenous disorder with brittle bones and involvement of other collagen containing connective tissue.

 

Incidence

 

1 in 20,000 live births.

Aetiology

 

Most of the observed phenotypes result from mutations in one of two genes that code for type I collagen precursor proteins (COL1A1 and COL1A2). Blue sclera result from a thinning of the sclera, which allows the colour of the underlying pigmented tissue to be seen.

 

Clinical features

 

Features and classification are given in Table 8.4.

 


Complications

Hearing loss due to otosclerosis. The triad of otosclerosis, blue sclera and brittle bones is termed van der Hoeve’s syndrome.


Management

 

Multidisciplinary approach involving physiotherapy, occupational therapy and orthopaedic surgery.

 

·        Gentle nursing of infant to avoid fractures.

 

·        Prompt splinting of fractures to prevent deformity. Mobilisation to prevent further osteopenia.

 

·        Correction of deformities if necessary by surgical intervention.

 

·        New therapies under evaluation include bisphosphonates, growth hormone and bone marrow transplant.

 

·        Genetic counselling should be offered where appropriate.

Study Material, Lecturing Notes, Assignment, Reference, Wiki description explanation, brief detail
Medicine and surgery: Musculoskeletal system : Osteogenesis imperfecta - Genetic musculoskeletal disorders |

Related Topics

Medicine and surgery: Musculoskeletal system


Privacy Policy, Terms and Conditions, DMCA Policy and Compliant

Copyright © 2018-2023 BrainKart.com; All Rights Reserved. Developed by Therithal info, Chennai.