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Chapter-336 Bone Dysplasia

BOOK TITLE: Textbook of Orthopedics & Trauma (4 Volumes)

Author
1. Naik Premal
2. Tamhankar Parag
3. Kulkarni Abhishek
4. Nagda Taral
5. Chaudhary Milind
6. Dhamale Jaideep
ISBN
9789385891052
DOI
10.5005/jp/books/12869_337
Edition
3/e
Publishing Year
2016
Pages
31
Author Affiliations
1. NHL Municipal Medical College, Ahmedabad, NHL Municipal Medical College; Rainbow Superspeciality Hospital, Ahmedabad, Gujarat, India, Rainbow Superspecialty Hospital and Children’s Orthopedic Centre; Smt NHL Municipal Medical College, Ahmedabad, Gujarat, India
2. KEMH, Mumbai, Rainbow Superspecialty Hospital and Children’s Orthopedic Centre; Smt NHL Municipal Medical College, Ahmedabad, Gujarat, India, MedGenome Labs, Bengaluru, Karnataka, India; Jupiter Hospital, Thane, and Lavkush Hospital for Children, Mumbai, Maharashtra, India
3. Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India, Rainbow Superspecialty Hospital and Children’s Orthopedic Centre; Smt NHL Municipal Medical College, Ahmedabad, Gujarat, India, T2T Hormone Clinics India; SRCC Children’s Hospital; Apollo and PD Hinduja and Jaslok Hospitals, Mumbai, Maharashtra, India, T2T Hormone Clinics; PD Hinduja and Jaslok Hospital, Mumbai, Maharashtra, India
4. PD Hinduja Hospital and Research Center, Mumbai, Maharashtra, India; Institute of Pediatric Orthopedic Disorders, Mumbai, Maharashtra, India, Rainbow Superspecialty Hospital and Children’s Orthopedic Centre; Smt NHL Municipal Medical College, Ahmedabad, Gujarat, India
5. Centre for Ilizarov Techniques, Chaudhary Trust Hospital, Akola, Maharashtra, India
6. Rainbow Superspeciality Hospital and Children’s Orthopedic Centre; Smt NHL Municipal Medical College, Ahmedabad, Gujarat, India
Chapter keywords
Bone dysplasia, osteogenesis imperfecta, Looser’s classification, achondroplasia, limb lengthening, external fixation device, arthrogryposis multiplex congenita, classical arthrogryposis, distal arthrogryposis

Abstract

This chapter focuses on the osteogenesis imperfect (OI), achondroplasia, arthrogryposis multiplex congenita. OI commonly known is a heterogeneous group of heritable disorders of connective tissues, characterized by bone fragility, osteopenia, and recurrent fractures with little or no apparent trauma. Looser’s classification and Sillence Classification are two classifications of OI. OI cannot be cured at present, so the goal is to “manage” the disease rather than to heal it. Medical management, orthopedic management, physiotherapy management and rehabilitation specialties management are the management of OI. Achondroplasia is the most common cause of short-limbed dwarfism. It is a type of autosomal dominant rhizomelic dwarfism which leads to short stature causing significant difficulty in activities of daily living. Arthrogryposis is a term used to describe multiple joint contractures at birth associated with varying degree of muscle weakness. It is a symptom rather than a disease. Classical arthrogryposis (amyoplasia), distal arthrogryposis and multiple pterygia syndromes are the different clinical features of arthrogryposis. The aim of arthrogryposis treatment is to achieve independent ambulation and independent upper limb function for the activity of daily living.

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