Clinical and molecular heterogeneity of osteogenesis imperfecta / Meena Balasubramanian.

Format:

Book

Author/Creator:

Balasubramanian, Meena, author.

Series:

Colloquium series on genomic and molecular medicine ; 2167-7859 # 8.

Colloquium digital library of life sciences

Colloquium series on genomic and molecular medicine, 2167-7859 ; # 8

Language:

English

Subjects (All):

Osteogenesis Imperfecta.

Osteogenesis imperfecta.

Medical Subjects:

Osteogenesis Imperfecta.

Physical Description:

1 online resource (xi, 63 pages) : illustrations.

Place of Publication:

[San Rafael, California] : Morgan & Claypool, 2017.

System Details:

System requirements: Adobe Acrobat reader.

Mode of access: World Wide Web.

text file

Summary:

Osteogenesis imperfecta (OI) is a disease encompassing a group of disorders mainly characterized by bone fragility and is the commonest form of heritable bone fragility. In this book, the clinical presentations with particular emphasis on rare phenotypes associated with OI are discussed together with molecular advances in diagnosis and treatment of OI. There is a broad spectrum of clinical severity in OI, ranging from multiple fractures in utero and perinatal death, to near-normal adult stature and low fracture incidence. Facial dysmorphism has been noted, but is not well described, nor is it an invariable feature. Sillence et al., in 1979, provided the clinical classification, which has been further expanded. Genetic defects in type 1 collagen can be identified in 85% of patients with a clinical diagnosis of OI, that is, mutations in COL1A1/COL1A2, which follows an autosomal dominant pattern of inheritance. Several genes have now been implicated in autosomal recessive forms of OI and X-linked osteoporosis. Given the possible antenatal presentation and prognosis associated with OI, it is important to make this diagnosis early and be able to distinguish this from other lethal skeletal dysplasias. It is also important to distinguish nonaccidental injury from a pathological cause of fractures, such as OI, and diagnose this promptly in these situations. However, this is not always possible due to variability in presentation and inability to pinpoint the precise genetic etiology despite extensive genetic testing. OI is one such rare genetic condition where treatment is available in the form of bisphosphonates, which has a huge impact on quality of life. Despite advances in medical therapy, multidisciplinary management including physiotherapy remains the mainstay of treatment and improved outcomes in OI.

Contents:

11. Conclusions

References

Glossary

Author biography.

9. Prognosis

10. Latest developments

8. Comorbidities

8.1 Cardiovascular disease in OI

8.2 Dental comorbidities in OI

8.3 Hearing loss

7. Therapeutic approaches for OI

7.1 Occupational and physical therapy

7.2 Medical management

7.3 Surgical management

7.4 Psychological therapy

6. Genetic diagnosis and management of OI

6.1 Genetic diagnosis

6.2 Genetic counseling

6.3 Prenatal diagnosis

5. Differential diagnoses

5.1 Nonaccidental injury

5.2 Malformation syndromes with OI phenotype

5.2.1 Hadju-Cheney acroosteolysis

5.2.2 Osteoporosis pseudoglioma syndrome

5.2.3 Idiopathic juvenile osteoporosis

5.2.4 Dentinogenesis imperfecta

5.2.5 Russell-Silver syndrome

5.2.6 3-M syndrome

5.2.7 IMAGe syndrome

5.3 Inherited connective tissue diseases with OI phenotype

5.3.1 Ehlers-Danlos syndrome

5.3.2 Cole-Carpenter syndrome

5.3.3 Bruck syndrome

4. Molecular heterogeneity of OI

4.1 Collagen genes

4.2 COL1A1 and COL1A2 variants

4.3 Whole gene deletions for COL1A1/A2

4.4 Other OI genes

4.5 Molecular variants of OI

4.5.1 BMP1 variants

4.5.2 LEPRE1, CRTAP, PPIB, and TMEM38B variants

4.5.3 FKBP10, PLOD2, and SERPINH1 variants

4.5.4 IFITM5 and SERPINF1 variants

4.5.5 WNT1, CREB3L1, and SP7 variants

4.5.6 Rare recessive OI

4.5.7 Atypical OI due to NBAS variants (SOPH syndrome)

3. Osteogenesis imperfecta

3.1 The classification of osteogenesis imperfecta

3.2 Atypical osteogenesis imperfecta

3.2.1 RSS-OI overlap

3.2.2 Caffey's Disease

3.2.3 Genomic imbalance in OI

2. The normal bone

2.1 Anatomy of the bone

2.2 Functions of bone

2.3 Embryology of the skeletal system

2.4 Bone structure

2.5 Bone formation, the molecular biology

1. Introduction

1.1 Bone and osteogenesis imperfecta

1.2 Historical perspectives

Notes:

Part of: Colloquium digital library of life sciences.

Includes bibliographical references (pages 45-58).

Title from PDF title page (viewed on February 24, 2017).

Other Format:

Print version:

ISBN:

9781615047451

OCLC:

973737803

Access Restriction:

Restricted for use by site license.