
Roger E. Stevenson (ed.)
et al.
Published:
01 October 2015
Online ISBN:
9780199386055
Print ISBN:
9780199386031
Contents
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Introduction Introduction
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Anatomical Embryology Anatomical Embryology
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Molecular Embryology Molecular Embryology
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References References
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References References
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1.1 Limb Deficiency 1.1 Limb Deficiency
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1.1A Absence of Limb 1.1A Absence of Limb
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Definition: Definition:
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References References
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1.1B Absent Radius 1.1B Absent Radius
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Definition: Definition:
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Treatment: Treatment:
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Prognosis: Prognosis:
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References References
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1.1C Absent Ulna 1.1C Absent Ulna
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Definition: Definition:
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Treatment: Treatment:
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Prognosis: Prognosis:
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References References
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1.1D Absence and Hypoplasia of the Humerus 1.1D Absence and Hypoplasia of the Humerus
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Definition: Definition:
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Treatment: Treatment:
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Prognosis: Prognosis:
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References References
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1.1E Absence and Hypoplasia of the Tibia 1.1E Absence and Hypoplasia of the Tibia
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Definition: Definition:
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Treatment: Treatment:
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Prognosis: Prognosis:
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References References
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1.1F Absence and Hypoplasia of the Fibula 1.1F Absence and Hypoplasia of the Fibula
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Definition: Definition:
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Treatment: Treatment:
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Prognosis: Prognosis:
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References References
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1.1G Absence and Hypoplasia of the Femur 1.1G Absence and Hypoplasia of the Femur
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Definition: Definition:
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Treatment: Treatment:
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Prognosis: Prognosis:
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References References
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1.1H Terminal Transverse Limb Deficiency 1.1H Terminal Transverse Limb Deficiency
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Definition: Definition:
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Treatment: Treatment:
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Prognosis: Prognosis:
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References References
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1.2 Synostosis 1.2 Synostosis
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1.2A Carpal Coalition and Tarsal Coalition 1.2A Carpal Coalition and Tarsal Coalition
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Definition: Definition:
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Treatment: Treatment:
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Prognosis: Prognosis:
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References References
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1.2B Metacarpophalangeal and Metatarsophalangeal Synostosis 1.2B Metacarpophalangeal and Metatarsophalangeal Synostosis
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Definition: Definition:
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References References
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1.2C Proximal Symphalangism 1.2C Proximal Symphalangism
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Definition: Definition:
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Treatment: Treatment:
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Prognosis: Prognosis:
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References References
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1.2D Distal Symphalangism 1.2D Distal Symphalangism
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Definition: Definition:
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References References
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1.2E Humeroradial Synostosis 1.2E Humeroradial Synostosis
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Definition: Definition:
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Treatment: Treatment:
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Prognosis: Prognosis:
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References References
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1.2F Radioulnar Synostosis 1.2F Radioulnar Synostosis
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Definition: Definition:
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Treatment: Treatment:
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Prognosis: Prognosis:
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References References
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1.2G Tibiofibular Synostosis 1.2G Tibiofibular Synostosis
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Definition: Definition:
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References References
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1.2H Sirenomelia 1.2H Sirenomelia
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Definition: Definition:
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Treatment: Treatment:
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Prognosis: Prognosis:
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References References
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1.3 Constriction Rings 1.3 Constriction Rings
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References References
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1.4 Excessive Partitions, Duplications, and Accessory Bones 1.4 Excessive Partitions, Duplications, and Accessory Bones
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Triphalangeal Thumb Triphalangeal Thumb
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Treatment: Treatment:
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Prognosis: Prognosis:
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Hyperphalangy Hyperphalangy
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Metacarpal Segmentation Metacarpal Segmentation
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Partition of Carpals and Tarsals Partition of Carpals and Tarsals
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Accessory Bones Accessory Bones
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Bifurcation of Humerus or Femur Bifurcation of Humerus or Femur
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Duplication of the Lower Limbs Duplication of the Lower Limbs
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Pseudoarthrosis Pseudoarthrosis
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References References
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References References
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1.5 Bowing of Long Bones 1.5 Bowing of Long Bones
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References References
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1.6 Short Stature 1.6 Short Stature
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References References
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1.7 Tall Stature 1.7 Tall Stature
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References References
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1.8 Limb Overgrowth 1.8 Limb Overgrowth
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References References
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1.9 Increased Bone Density 1.9 Increased Bone Density
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References References
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1.10 Decreased Bone Density 1.10 Decreased Bone Density
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References References
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1.11 Osteolysis 1.11 Osteolysis
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References References
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1.12 Anomalies of the Patella 1.12 Anomalies of the Patella
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Agenesis of the Patella Agenesis of the Patella
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Hypoplasia of the Patella Hypoplasia of the Patella
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Abnormal Ossification of the Patella Abnormal Ossification of the Patella
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Dislocation of the Patella Dislocation of the Patella
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References References
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References References
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1.13 Arthrogryposis (Multiple Congenital Contractures) 1.13 Arthrogryposis (Multiple Congenital Contractures)
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1.13A Amyoplasia 1.13A Amyoplasia
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Definition: Definition:
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Treatment: Treatment:
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Prognosis: Prognosis:
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References References
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1.13B Distal Arthrogryposis 1.13B Distal Arthrogryposis
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Definition: Definition:
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Treatment: Treatment:
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Prognosis: Prognosis:
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References References
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1.13C Fetal Akinesia Phenotype 1.13C Fetal Akinesia Phenotype
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Definition: Definition:
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Treatment: Treatment:
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Prognosis: Prognosis:
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References References
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1.13D Pterygium 1.13D Pterygium
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Definition: Definition:
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Treatment: Treatment:
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Prognosis: Prognosis:
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References References
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Cite
Stevenson, Roger E., 'Limbs', in Roger E. Stevenson, and others (eds), Human Malformations and Related Anomalies, 3 edn, Oxford Monographs on Medical Genetics (New York , 2015; online edn, Oxford Academic, 1 Oct. 2015), https://doi.org/10.1093/med/9780199386031.003.0001, accessed 6 May 2025.
Abstract
Because of their anatomical complexity, the extended period of morphogenesis, and their exposure beyond the protection of the body wall, the limbs are susceptible to malformation, disruption, deformation, and other morphologic alterations. Anomalies of limb development are often obvious to casual inspection and may impair dexterity, range of movement, and ambulation. They occur as isolated birth defects but often are associated with other malformations, in many cases as recognizable syndromes affecting the skeletal and other systems.
Keywords:
Limb Deficiency, Synostosis, Limb Duplication, Osteolysis, Contractures, Arms, Legs, Osteoporosis, Skeleton, Osteopetrosis, Stature, Ambulation, Skeletal Dysplasias, Long Bones, Joints
Collection:
Oxford Medicine Online
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Oxford University Press makes no representation, express or implied, that the drug dosages in this book are correct.
Readers must therefore always …
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Oxford University Press makes no representation, express or implied, that the drug dosages in this book are correct.
Readers must therefore always check the product information and clinical procedures with the most up to date published product information and data sheets
provided by the manufacturers and the most recent codes of conduct and safety regulations. The authors and the publishers do not accept responsibility or
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and recommendations are for the non-pregnant adult who is not breastfeeding.
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