Congenital Bone & Joint Diseases

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]

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Structural changes are caused by : ,[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]

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]

2. Bone Dysplasias ,[object Object],[object Object],[object Object],[object Object]

Investigations & Diagnosis of Bone Dysplasias ,[object Object],[object Object],[object Object]

Classification of Bone Dysplasias ,[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]

1. Dwarfism : 2 types ,[object Object],[object Object],[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. Predominantly Epiphyseal Involvement : ,[object Object],[object Object],[object Object],[object Object]

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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]

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2. Hypochondroplasia ,[object Object],[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]

4. Familial Hypophosphataemia ( Vitamin-D Resistant Rickets ) ,[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]

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]

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2. Pseudo-Achondroplsia ,[object Object],[object Object],[object Object],[object Object],[object Object]

3. Diastrophic Dysplasia ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

4. Rare Syndromes ,[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]

Increased bone density… B.Pycnodysostosis ,[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]

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