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Congenital Bone & Joint Diseases

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Department of Orthopaedics & Trauma, Faculty of Medicine / King AbdulAziz University
Department of Orthopaedics & Trauma, Faculty of Medicine / King AbdulAziz University

This document provides an overview of congenital bone and joint diseases. It begins with an introduction and outline. The first section discusses genetic aspects, including basic genetic principles like chromosomes, genes, alleles, and patterns of inheritance. It describes numerical and structural chromosomal abnormalities. The second section covers bone dysplasias, including classification systems and a simplified classification covering disorders like dwarfism and abnormalities around the growth plate.

TechnologyHealth & Medicine
1 of 81
Congenital Bone & joint Diseases By Dr.Abdullah bin Habeeballah bin Abdullah Juma F.R.C.S.Ed Associate Professor & Consultant Orthopaedic Surgeon
Introduction ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Continue……… ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
1. Genetic Aspects of Orthopaedics ,[object Object]
Basic genetic principles : ,[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object]
[object Object]
[object Object],[object Object]
Structural changes are caused by : ,[object Object],[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object]
Genetic Aspects ,[object Object],[object Object]
A. Single Gene Disorders ,[object Object],[object Object],[object Object]
Classification of single gene disorders ,[object Object],[object Object]
Autosomal Dominant Inheritance ,[object Object],[object Object],[object Object]
Autosomal Recessive Inheritance ,[object Object],[object Object]
X-linked Dominant Inheritance ,[object Object],[object Object],[object Object],[object Object]
X-linked Recessive Inheritance ,[object Object]
[object Object],[object Object]
Genetic Aspects ,[object Object],[object Object]
B. Multi-factorial Inheritance ,[object Object],[object Object],[object Object]
Spina Bifida & Anencephaly ,[object Object],[object Object],[object Object],[object Object]
Congenital Talipes Equino-Varus deformity (C.T.E.V.) ,[object Object],[object Object],[object Object],[object Object]
Legg-Calve-Perthes’ Disease ,[object Object],[object Object],[object Object],[object Object],[object Object]
Adolescent Idiopathic Scoliosis (A.I.S. ) ,[object Object],[object Object],[object Object]
Introduction ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
2. Bone Dysplasias ,[object Object],[object Object],[object Object],[object Object]
Investigations & Diagnosis of Bone Dysplasias ,[object Object],[object Object],[object Object]
[object Object],[object Object]
Classification of Bone Dysplasias ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object]
[object Object],[object Object]
A simple Classification of Bone Dysplasias ,[object Object],[object Object],[object Object],[object Object],[object Object]
Continue…Classification of Bone Dysplasia ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
A simple Classification of Bone Dysplasias ,[object Object],[object Object],[object Object],[object Object],[object Object]
1. Dwarfism : 2 types ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
A simple Classification of Bone Dysplasias ,[object Object],[object Object],[object Object],[object Object],[object Object]
2. Disorders around the growth plate : 3 groups ,[object Object],[object Object],[object Object]
A simple Classification of Bone Dysplasias ,[object Object],[object Object],[object Object],[object Object],[object Object]
A. Predominantly Epiphyseal Involvement : ,[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
A simple Classification of Bone Dysplasias ,[object Object],[object Object],[object Object],[object Object],[object Object]
B. Predominantly Metaphyseal Involvement : ,[object Object],[object Object],[object Object],[object Object],[object Object]
1. A chondroplasia ,[object Object],[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object],[object Object]
B. Predominantly Metaphyseal Involvement : ,[object Object],[object Object],[object Object],[object Object],[object Object]
2. Hypochondroplasia ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object]
B. Predominantly Metaphyseal Involvement : ,[object Object],[object Object],[object Object],[object Object],[object Object]
3. Metaphyseal Chondrodysplasia ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
B. Predominantly Metaphyseal Involvement : ,[object Object],[object Object],[object Object],[object Object],[object Object]
4. Familial Hypophosphataemia ( Vitamin-D Resistant Rickets ) ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object],[object Object],[object Object]
A simple Classification of Bone Dysplasias ,[object Object],[object Object],[object Object],[object Object],[object Object]
C. Predominantly Vertebrae ,[object Object],[object Object],[object Object],[object Object]
1. Spondylo – Epiphyseal Dysplsia.. 2 forms : ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
C. Predominantly Vertebrae ,[object Object],[object Object],[object Object],[object Object]
2. Pseudo-Achondroplsia ,[object Object],[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object],[object Object],[object Object]
C. Predominantly Vertebrae ,[object Object],[object Object],[object Object],[object Object]
3. Diastrophic Dysplasia ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
C. Predominantly Vertebrae ,[object Object],[object Object],[object Object],[object Object]
4. Rare Syndromes ,[object Object],[object Object],[object Object]
Continue…Classification of Bone Dysplasia ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
3. Changes in the Bone Density ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Increased bone density… A.Osteopetrosis : ,[object Object],[object Object],[object Object],[object Object],[object Object]
Continue .. Osteopetrosis, tarda form ,[object Object],[object Object],[object Object]
3. Changes in the Bone Density ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Increased bone density… B.Pycnodysostosis ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
3. Changes in the Bone Density ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Decreased bone density… Osteogenesis Imperfecta ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Osteogenesis Imperfecta… 2 forms.. ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Osteogenesis Imperfecta..continue ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
4.Cranio-tubular Disorders

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