Content Part I Thorax Abnormal Shape or Size of the Chest Skull Abnormalities of the Shape and/or Size Rib Abnormalities of the Skull

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1 Content Part I Chapter 1 Skull Abnormalities of the Shape and/or Size of the Skull Microcephaly Macrocephaly Craniosynostosis Abnormalities of Cranial Development and Ossification Calvarial Ossification Defects Delayed Closure and/or Incomplete Ossification of Sutures and Fontanels Wormian Bones Skull Thickening Abnormalities of the Skull Base Abnormalities of the Sella Turcica Abnormalities of the Foramen Magnum Basilar Impression Abnormalities of the Facial Bones and Sinonasal Cavities Abnormalities of Orbital Size Orbital Hypotelorism Orbital Hypertelorism Choanal Atresia Facial Clefts Small Sinuses Abnormalities of the Mandible Micrognathia Prognathism Intracranial Calcification Chapter 2 Thorax Abnormal Shape or Size of the Chest Small Thorax Pectus Excavatum Pectus Carinatum Rib Abnormalities Short Ribs Eleven Pairs of Ribs Supernumerary Ribs Slender, Thin, or Twisted Ribs Wide or Thickened Ribs Rib Notching Defects in Segmentation Flared or Cupped Ribs Rib Gap Clavicular Abnormalities Aplasia and Hypoplasia Slender Clavicles Wide or Thickened Clavicles Clavicles with Lateral Hooks Scapular Abnormalities Sternal Abnormalities Chapter 3 Spine Abnormal Shape or Size of Vertebrae Tall Vertebrae Beaked Vertebrae Scalloping of the Vertebral Body Platyspondyly Hemivertebrae Block Vertebrae Coronal Cleft Vertebrae Absent or Minimal Vertebral Ossification Odontoid Hypoplasia/Aplasia Sacral Agenesis

2 XII Content Defects of Spinal Alignment Scoliosis and Kyphosis Abnormalities of the Spinal Canal Narrow Spinal Canal Wide Spinal Canal Atlanto-axial Instability Disc Calcification Chapter 4 Pelvis Abnormal Shape or Size of Ilia, Ischia, and Pubic Bones Small, Hypoplastic Pelvis Flared Iliac Wings Small Sciatic Notches Iliac Crest Serration Wide Interpubic Distance Acetabular Abnormalities Small Acetabular Angle Protrusio Acetabuli Abnormalities of the Femoral Head and Neck Slipped Capital Femoral Epiphysis Coxa Vara Coxa Valga Early Ossification of the Femoral Head Hypoplasia/Aplasia, Irregularities, Fragmentation of the Femoral Head Hip Subluxation and Dislocation Chapter 5 Long Bones Abnormalities of the Shape and Contour of the Long Bones Broad Tubular Bones Slender Tubular Bones Bowed Tubular Bones Cortical Thickening Cortical Thinning Limb Shortening Rhizomelic Limb Shortening Mesomelic Limb Shortening Abnormalities of the Long Bones in the Upper Extremities Radioulnar Synostosis Humeroradial and Humeroulnar Synostosis 311 Madelung Deformity Abnormalities of the Long Bones in the Lower Extremities Genu Varum Genu Valgum Proximal Femoral Focal Dysplasia Tibial Bowing Tibial Hemimelia Fibular Hemimelia Patellar Hypoplasia, Aplasia, Dysplasia, and Dislocation Epiphyseal Abnormalities Stippled Epiphyses Hypoplastic, Dysplastic, Dysgenetic Epiphyses Large Epiphyses Aseptic Necrosis Metaphyseal Abnormalities Broad Metaphyses Metaphyseal Cupping Metaphyseal Spurs Metaphyseal Bands Irregular Metaphyses Chapter 6 Hands , B. Dallapiccola Shortening or Absence of Components of the Hands Brachytelephalangy Brachymesophalangy Brachyproxiphalangy Brachymetacarpalia Radial Ray Deficiency Ulnar-Ray Deficiency Central Ray Deficiency Terminal Transverse Defect Other Anomalies of the Hand Preaxial Polydactyly Postaxial Polydactyly Syndactyly Symphalangism Clinodactyly Camptodactyly Angel-shaped Phalanges Macrodactyly Arachnodactyly Epiphyseal Abnormalities Cone-shaped Epiphyses Pseudoepiphyses Ivory Epiphyses

3 Content XIII Carpal Abnormalities Carpal Angle Abnormalities Supernumerary Carpal Bones Carpal Synostosis Thumb Abnormalities Thumb Hypoplasia/Aplasia Triphalangeal Thumb Thumb Polydactyly Acro-osteolyses Acro-osteolysis, Phalangeal Type Acro-osteolysis, Carpotarsal Type Chapter 7 Feet Clubfoot and Other Foot Deformities Clubfoot/Metatarsus Adductus Vertical Talus Tarsal Abnormalities Tarsal Synostosis Multiple Calcaneal Ossification Centers Chapter 8 Joints Abnormalities of Joint Motion Joint Contracture, Joint Stiffness Ankylosis Joint Laxity, Joint Hypermobility Abnormalities of Joint Position Joint Subluxation and Dislocation Premature Degenerative Joint Disease Chapter 9 Generalized Skeletal Abnormalities Osteoporosis Osteosclerosis, Hyperostosis Multiple Fractures, Bone Fragility Exostoses, Spurs, Horns Multiple Radiolucent Defects, Lytic Lesions Osteolyses Advanced Bone Age Delayed Bone Age Soft Tissue Calcification and Ossification Asymmetry (Hemihypertrophy, Hemiatrophy) 562 Dwarfism with Neonatal Death Part II, B. Dallapiccola 1Aarskog Syndrome Achondrogenesis,Type IB Achondrogenesis,Type II Achondroplasia Acrofacial Dysostosis, Nager Type Angelman Syndrome Apert Syndrome Asphyxiating Thoracic Dysplasia Atelosteogenesis Bardet-Biedl Syndrome Beckwith-Wiedemann Syndrome C Syndrome Campomelic Dysplasia Carpenter Syndrome Cerebro-costo-mandibular Syndrome CHARGE Association Chondrodysplasia Punctata, Conradi-Hünermann Type Chondrodysplasia Punctata, Rhizomelic Form Chondrodysplasia Punctata, Brachytelephalangic Type Chondroectodermal Dysplasia Chromosome 4p Syndrome Chromosome Trisomy 13 Syndrome Chromosome Trisomy 18 Syndrome Chromosome Trisomy 21 Syndrome Cleidocranial Dysplasia Cockayne Syndrome Coffin-Lowry Syndrome Coffin-Siris Syndrome Cohen Syndrome Craniometaphyseal Dysplasia, Dominant Type Cri-du-chat Syndrome Crouzon Syndrome De Lange Syndrome Diaphyseal Dysplasia Diastrophic Dysplasia Dubowitz Syndrome Dyschondrosteosis Dysosteosclerosis Ectodermal Dysplasias Ehlers-Danlos Syndromes Enchondromatosis Exostoses, Multiple Fanconi Anemia

4 XIV Content 44 Focal Dermal Hypoplasia Syndrome Freeman-Sheldon Syndrome Frontometaphyseal Dysplasia Goldenhar Syndrome Hallermann-Streiff Syndrome Holt-Oram Syndrome Kenny-Caffey Syndrome Klippel-Feil Anomaly Klippel-Trenaunay-Weber Syndrome Kniest Dysplasia Larsen Syndrome Marfan Syndrome McCune-Albright Syndrome Meckel Syndrome Melnick-Needles Syndrome Melorheostosis Mental Retardation, X-Linked, Associated with FRA Xq Mesomelic Dwarfism, Langer Type Mesomelic Dwarfism, Nievergelt Type Metatropic Dysplasia Multiple Epiphyseal Dysplasia Nail Patella Syndrome Nevoid Basal Cell Carcinoma Syndrome Noonan Syndrome Opitz Syndrome Oro-facio-digital Syndrome, Type I Oro-facio-digital Syndrome, Type II Osteogenesis Imperfecta, Type I Osteogenesis Imperfecta, Type IIA Osteogenesis Imperfecta, Type IIB/III Osteopathia Striata with Cranial Sclerosis Osteopetrosis, Infantile Type Osteopetrosis, Adult Type Osteopoikilosis Oto-palato-digital Syndrome, Type I Oto-palato-digital Syndrome, Type II Pena-Shokeir Syndrome Pfeiffer Syndrome Poland Syndrome Prader-Willi Syndrome Progeria Pseudoachondroplasia Pyknodysostosis Roberts Syndrome Robin Sequence Robinow Syndrome Rubinstein-Taybi Syndrome Saethre-Chotzen Syndrome Seckel Syndrome Short Rib-Polydactyly Syndrome, Type I Short Rib-Polydactyly Syndrome, Type II Silver-Russell Syndrome Smith-Lemli-Opitz Syndrome Sotos Syndrome Spondyloepimetaphyseal Dysplasia, Irapa Type Spondyloepimetaphyseal Dysplasia, Strudwick Type Spondyloepiphyseal Dysplasia Congenita Spondyloepiphyseal Dysplasia Tarda Spondylometaphyseal Dysplasia, Kozlowski Type Stickler Syndrome Thanatophoric Dysplasia Thrombocytopenia-Absent Radius Syndrome Treacher-Collins Syndrome Tricho-rhino-phalangeal Syndrome, Type I Tricho-rhino-phalangeal Syndrome, Type II Turner Syndrome VATER Association Williams Syndrome Subject Index

= Developmental disorders of chondro-osseous tissue

= Developmental disorders of chondro-osseous tissue Common Orthopedic Problems Dwarfism Short Stature Pathologic Short Stature Normal Variant Short Stature Proportionate Short Stature Midget Endocrine/nutritional