Skeletal Dysplasias & Congenital Malformations

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