Skeletal Dysplasias & Congenital Malformations

✍ Scribed by Surender Singh Yadav

• Publisher: Springer
• Year: 2023
• Tongue: English
• Leaves: 366
• Category: Library

✦ Synopsis

This book presents significant clinical and radiological descriptions with photographic details of common and rare Skeletal Dysplasias and Congenital Malformations. It simplifies and classifies skeletal dysplasias and other orthopedic congenital anomalies with the help of a collection of complex cases.It contains 1195 images (404 Coloured). It also explains the simple and systematic approach to correct diagnosis and adequate management of such patients. All types of congenital anomalies of the musculoskeletal system are included, some of them treated.
This book assists PG students in the Department of Orthopaedics, Paediatrics, and Radiology. It is also helpful as a ‘Reference Book’ for the concerned Medical teachers, Researchers, General Practitioners, and all others interested. The book will also benefit the parents of such children for correct diagnosis and required management.

✦ Table of Contents

Preface
Acknowledgements
Contents
About the Author
Part I: Skeletal Dysplasias
1: The Skeletal Dysplasias
1.1 Introduction
2: Skeletal Dysplasia
2.1 Genetics
2.2 The Prevalence of Skeletal Dysplasias
3: Skeletal Dysplasia
3.1 Classification
3.1.1 According to the Regions Involved
3.1.2 According to the Tissue Involved
3.1.2.1 Dysplasias Due to Disturbances in Chondroid Production
3.1.2.2 Dysplasia Due to Disturbances in Osteoid Production
3.1.3 Miscellaneous Dysplasia
3.2 The Possible Stage of Identification
Suggested Readings
4: Chondrodysplasia with Predominantly Epiphyseal Involvement
4.1 Multiple Epiphyseal Dysplasia
4.2 Chondrodysplasia Punctata (Chondrodysplasia Calcificans Congenita or Stippled Epiphyses)
4.3 Kniest Dysplasia
Suggested Readings
5: Chondrodysplasia with Predominantly Metaphyseal Involvement
5.1 Achondroplasia
5.2 Hypochondroplasia
5.3 Thanatophoric Dysplasia
5.4 Metaphyseal Chondrodysplasia
5.5 Chondroectodermal Dysplasia
Suggested Readings
6: Chondrodysplasia Predominantly Involving the Spine
6.1 Spondyloepiphyseal Dysplasia Congenita
6.2 Spondyloepiphyseal Dysplasia Tarda
6.3 Spondylo-Metaphyseal Dyschondroplasia
6.4 Diastrophic Dysplasia
6.5 Campomelic Dysplasia
6.5.1 Metatropic Dysplasia
Suggested Readings
7: Chondroplasia Involving Specific Anatomical Sites
7.1 Cleidocranial Dysplasia
7.2 Pseudoachondroplastic Dysplasia
7.3 Mesomelic Dysplasia
7.4 Acromelic Dysplasias
Suggested Readings
8: Chondroplasia Involving Tumour-Like Formation of Cartilage
8.1 Osteochondromatosis (Hereditary Multiple Exostoses; Diaphyseal Aclasis; Metaphyseal Aclasis)
8.2 Enchondromatosis
8.3 Maffucci’s Syndrome
8.4 Dysplasia Epiphysealis Hemimelia
Suggested Readings
9: Disorders of Skeletal Development with Abnormal Connective Tissue Formation
9.1 Osteogenesis Imperfecta
9.2 Osteogenesis Imperfecta Type I
9.3 Osteogenesis Imperfecta II
9.4 Osteogenesis Imperfecta III
9.5 Osteogenesis Imperfecta IV
9.6 Marfan’s Syndrome
9.7 Ehlers-Danlos Syndrome
Suggested Readings
10: Disorders of Skeletal Development Due to Lysosomal Storage Disease
10.1 Mucopolysaccharidoses: Dysostosis Multiplex
10.2 Hurler Syndrome-MPS I (Gorgoylism)
10.3 Hunter’s Syndrome (MPS II)
10.4 Morquio’s Disease (MP IV)
10.5 Gaucher’s Disease
Suggested Readings
11: Disorders of Skeletal Development Associated with Osteoscalerosis
11.1 Osteopetrosis
11.2 Pyknodysostosis
11.3 Melorheostosis
11.4 Osteopoikilosis
11.5 Osteopathia Striata
11.6 Metaphyseal Dysplasia (Pyle’s Disease)
11.7 Progressive Diaphyseal Sclerosis
11.8 Infantile Cortical Hyperostosis
11.9 Mixed Sclerotic Dysplasia
Suggested Readings
12: Dysplasia Associated with Heterotopic Bone Formation
12.1 Fibrodysplasia Ossificans Progressiva
12.1.1 Progressive Osseous Heteroplasia
12.1.2 Myositis Ossificans Traumatica
Suggested Readings
13: Other Abnormalities of Muscolo-Skeletal Development
13.1 Neurofibromatosis
13.2 Orthopaedic Manifestations of Neurofibromatosis
13.3 Fibrous Dysplasia
13.4 McCune-Albright Syndrome
13.5 Osteofibrous Dysplasia
13.6 Idiopathic Osteolysis
13.6.1 Massive Osteolysis (Gorham-Stout Disease/Disappearing Bone Disease)
13.6.2 Hajdu-Cheney Type of the Osteolysis
13.7 Arthrogryposis Multiplex Congenita
13.8 Muscular Dystrophies
13.8.1 Duchenne Muscular Dystrophy
13.8.2 Becker Muscular Dystrophy
13.8.2.1 Limb-Girdle Muscular Dystrophy
13.8.2.2 Facio-Scapulo-Humeral Muscular Dystrophy
13.9 Larsen’s Syndrome
13.10 Infantile Digital Fibromatosis (Congenital Digital Fibromas)
13.10.1 Poland Syndrome
13.10.2 Nail-Patella Syndrome
13.10.3 Proteus Syndrome
13.10.4 Holt-Oram Syndrome
13.10.5 Pterygia Syndrome
13.10.6 Mild Dysplasias
13.10.7 Lethal Skeletal Dysplasias
13.10.8 The Unknown Skeletal Dysplasias
Suggested Readings
Part II: General Considerations
14: General Considerations
Suggested Reading
15: Congenital Disorders of Neck and Chest
15.1 Klippel-Feil Syndrome
15.2 Sprengel’s Deformity
15.2.1 Other Congenital Anomalies of the Cervical Spine
15.3 Cervical Rib
15.4 Congenital Muscular Torticollis
15.5 Erbs Palsy/Birth Palsy
15.6 Pectus Excavatum Congenitum
15.7 Pectus Carinatum Congenitum
Suggested Readings
16: Congenital Disorders of the Spine
16.1 Congenital Scoliosis
16.2 Idiopathic Scoliosis
16.3 Kyphosis
16.4 Congenital Kyphosis
16.5 Scheuermann Disease
16.6 Postural Kyphosis
16.7 Diastematomyelia
16.8 Spondylolysis and Spondylolisthesis
16.9 Complications
16.10 Bertolotti Syndrome (Mega Transverse Process L5)
16.11 Spina Bifida Occulta
16.12 Meningocele and Myelomeningocele (Spina Bifida Cystica)
16.13 Sacral Agenesis
Suggested Readings
17: Congenital Skeletal Limb Malformations
18: Upper Extremity Malformations
18.1 Triplication of the Upper Extremity
18.1.1 Triplication of the Right Upper Extremity
18.1.2 Amelia
18.1.3 Phocomelia (Intersegmental Deficiency)
18.1.4 Congenital Deltoid Contracture
18.2 Congenital Synostosis
18.2.1 Congenital Humero-Ulnar Synostosis
18.2.2 Radio-Ulnar Synostosis
18.2.3 Radial Deficiencies (Clubhand)
18.2.4 Type 1: Short Distal Radius
18.2.5 Type 2: Hypoplastic Radius
18.2.6 Type 3: Partial Absence of the Radius
18.2.7 Type 4: Total Absence of the Radius (Radial Club Hand)
18.2.8 Ulnar Deficiencies
18.2.9 Classification of Ulnar Deficiencies
18.2.10 Congenital Radial Head Dislocation
18.2.11 Madelung Deformity
18.2.12 Post-Traumatic Disarticulation at the Right Shoulder and Amputation at the Left Wrist
18.2.12.1 Krukenberg Operation
18.3 Split Hand (Bi-Fid Hand)
18.4 Manus Fissa
18.5 Syndactylia
18.6 Polydactylia Syndactilia
18.7 A Rare Anomaly of the Hand
18.7.1 Oligodactyly
18.7.2 Macrodactylia
18.7.3 Camptodactyly
18.7.4 Clinodactyly
18.7.5 Thumb Anomalies
18.7.5.1 Pollex Duplex
18.7.6 Pollex Duplex with a Crown
18.7.7 Congenital Hypoplasia of the Thumb (Floating Thumb)
18.7.8 Congenital Absence of the Thumb
18.7.9 Pollicisation of the Index Finger for Loss of Thumb
18.7.10 Tri-Phalangeal Thumb
18.7.11 Pollex Flexus
18.7.12 Short Metacarpal
18.7.13 Dupitrins Contracture
18.8 Phalangeal Variations
Suggested Readings
19: Lower Extremity Malformations
19.1 Proximal Femoral Focal Deficiency (PFFD)
19.1.1 Type A
19.1.2 Type B
19.1.3 Type C
19.1.4 Type D
19.2 Rotationplasty
19.3 Congenital Dislocation of the Hip
19.4 Coxa-Valga
19.5 Congenital Coxa-Vara
19.6 Slipped Capital Femoral Epiphysis (SCFE)
19.7 Congenital Gluteus Maximus Contracture
19.8 Congenital Dislocation of the Knee
19.8.1 Neglected Cases with Dislocation of the Knee
19.9 Congenital Dislocation of the Patella
19.10 Tibial Hemimelia
19.10.1 Classification: John et al.
19.10.2 Tibial Hemimelia (Type-II)
19.11 Neglected Tibial Hemimelia Type-I
19.11.1 Congenital Fibular Hemimelia
19.12 Congenital Pseudoarthrosis
19.12.1 Congenital Pseudoarthrosis of the Radius
19.13 Congenital Pseudoarthrosis of Tibia
19.13.1 The Author’s Technique of Maternal Fibular Grafting
19.13.2 Congenital Postero-Medial Bowing of the Tibia
19.14 Congenital Talipes Equinovarus (Pes Equinovarus Congenitus)
19.14.1 Surgical Treatment
19.14.2 Complication of Surgical Approach
19.14.3 Congenital Tendo-Achilles Contracture: Equinus Foot
19.14.4 Congenital Calcaneus Deformity: Calcaneocavovalgus
19.14.5 Congenital Calcaneovalgus Deformity
19.14.6 Congenital Vertical Talus
19.15 Congenital Coalition of Tarsal Bones
19.15.1 Accessory Navicular
19.15.2 Congenital Short Metatarsal (Brachymetatarsia)
19.15.3 Syndactyly of the Foot
19.15.4 Polydactyly (Duplication) of the Foot
19.15.5 Oligodactyly
19.15.6 Macrodactylia
19.15.7 Congenital Hallux Valgus
19.15.8 Congenital Hallux Varus
19.15.9 Rigid Hammer Toe
19.15.10 Overlapping Second Toe
19.15.11 Bi-Fid Foot: Split Foot
19.16 Congenital Amniotic Constriction Band Syndrome
19.16.1 Congenital Hypoplastic Toes
Suggested Readings
20: Gigantism, Acromegaly and Dwarfism
20.1 Gigantism: Acromegaly
20.2 Dwarfism
Suggested Readings
21: Hemihypertrophy and Hemihypotrophy
Suggested Readings