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The main aim of this book is to help obstetricians and gynecologists recognize prenatal skeletal anomalies. Bone dysplasias alone represent about a third of all fetal malformations, some of which have different prognoses ranging from mild disabilities to severe or lethal ones. However, recognizing them prenatally is often difficult or impossible as they usually become apparent in the third trimester or even after birth. The majority of skeletal syndromes are extremely rare, making genetic testing necessary. The book is divided into sections, starting from the skull and ending with the feet, with each chapter discussing anomalies specific to that organ or bone deformation. It's a lengthy journey of 56 chapters that requires a precise and rigorous educational path to diagnose such diseases. However, by following the "Ariadne's thread" represented by the "characteristic sign" and the help of a geneticist, the difficult task becomes feasible.
Front Matter
Pages i-xv
Classification of Osteodysplasias and Study Methodology
Aniello Di Meglio, Laura Letizia Mazzarelli, Carmine Sica
Pages 1-23
Classification of Osteodysplasia and Dysmorphic Syndromes with Skeletal Involvement
Aniello Di Meglio, Carla Riccardi
Pages 25-28
Craniofacial Anomalies
Aniello Di Meglio, Letizia Di Meglio
Pages 29-61
Congenital Defects of the Spine
Aniello Di Meglio, Lavinia Di Meglio
Pages 63-92
Deformity of the Thorax and Pelvis: Thorax
Aniello Di Meglio, Lavinia Di Meglio
Pages 93-97
Ectromelia
Aniello Di Meglio
Pages 99-124
Congenital Deformities of the Upper Limb
Aniello Di Meglio, Giuliana Orlandi
Pages 125-147
Congenital Deformities of the Lower Limb
Aniello Di Meglio, Olimpia Gabrielli
Pages 149-182
Osteopathies from Exogenous Etiology
Aniello Di Meglio, Laura Letizia Mazzarelli
Pages 183-193
Osteodysplasia
Aniello Di Meglio, Antonia Lettieri
Pages 195-196
Lethal Osteodysplasia of the Micromelic Type
Aniello Di Meglio, Giordana Sica, Olimpia Gabrielli
Pages 197-232
Rhizomelic Dwarfism
Aniello Di Meglio, Luigi Manzo
Pages 233-261
Mesomelic Dwarfism
Aniello Di Meglio, Luigi Manzo
Pages 263-287
Acromesomelic Dysplasia
Aniello Di Meglio, Carla Riccardi
Pages 289-297
Acromelic Dysplasia
Aniello Di Meglio, Carmine Sica
Pages 299-304
Ingravescent Micromelic Dysplasia with Increasing Severity in a Proximo-Distal Gradient
Aniello Di Meglio, Antonia Lettieri
Pages 305-307
Osteodysplasia with Isolated or Contemporary Interest of Epiphysis, Metaphysis, and Vertebral Bodies
Aniello Di Meglio, Letizia Di Meglio, Gabriele Ruffo
Pages 309-341
Sclerosing–Hyperostosing–Dysremodeling Osteopathies
Aniello Di Meglio, Lavinia Di Meglio, Paolo Toscano
Pages 343-362
Rarefying Osteopathies
Aniello Di Meglio, Luigi Manzo
Pages 363-378
Osteopathies from Anarchic Tissue Development
Aniello Di Meglio, Giordana Sica
Pages 379-392
Idiopathic Osteolysis
Aniello Di Meglio, Laura Letizia Mazzarelli
Pages 393-404
Chromosomal Aberrations
Aniello Di Meglio, Carmine Sica, Olimpia Gabrielli
Pages 405-436
Dysmorphic Syndromes with Skeletal Anomalies
Aniello Di Meglio, Luigi Manzo
Pages 437-437
Syndromes with Lethal or Sublethal Evolution
Aniello Di Meglio, Letizia Di Meglio
Pages 439-466
Dysmorphic Syndromes with Craniofacial Anomalies
Aniello Di Meglio, Letizia Di Meglio, Carla Riccardi
Pages 467-497
Dysmorphic Syndromes with Anomalies of the Skull and Extremities
Aniello Di Meglio, Lavinia Di Meglio, Laura Letizia Mazzarelli
Pages 499-527
Dysmorphic Syndromes with Anomalies of the Oral Cavity and Extremities
Aniello Di Meglio, Antonia Lettieri, Giordana Sica
Pages 529-558
Dysmorphic Syndromes with Prevalent Involvement of Long Bones
Aniello Di Meglio, Lavinia Di Meglio, Carla Riccardi
Pages 559-585
Dysmorphic Syndromes with Prevalent Involvement of the Trunk
Aniello Di Meglio, Gabriele Ruffo, Luigi Manzo
Pages 587-597
Dysmorphic Syndromes with Limb Overgrowth
Aniello Di Meglio, Paolo Toscano, Lavinia Di Meglio
Pages 599-605
Dysmorphic Syndromes with Dolichostenomelia
Aniello Di Meglio, Giuliana Orlandi, Letizia Di Meglio
Pages 607-612
Dysmorphic Syndromes with Joint Stiffness
Aniello Di Meglio, Lavinia Di Meglio
Pages 613-636
Dysmorphic Syndromes with Prenatal Dwarfism and Skeletal Anomalies
Aniello Di Meglio, Olimpia Gabrielli, Giordana Sica
Pages 637-646
Dysmorphic Syndromes with Cerebral and Skeletal Anomalies
Aniello Di Meglio, Letizia Di Meglio, Antonia Lettieri
Pages 647-659
Dysmorphic Syndromes with Ocular and Skeletal Anomalies
Aniello Di Meglio, Carla Riccardi, Olimpia Gabrielli
Pages 661-682
Dysmorphic Syndromes with Cardiac and Skeletal Anomalies
Aniello Di Meglio, Laura Letizia Mazzarelli, Luigi Manzo
Pages 683-692
Dysmorphic Syndromes with Pulmonary and Skeletal Anomalies
Aniello Di Meglio, Antonia Lettieri, Giordana Sica
Pages 693-699
Dysmorphic Syndromes with Renal and Skeletal Anomalies
Aniello Di Meglio, Lavinia Di Meglio
Pages 701-707
Dysmorphic Syndromes with Genital and Skeletal Anomalies
Aniello Di Meglio, Carla Riccardi, Gabriele Ruffo
Pages 709-730
Dysmorphic Syndromes with Skin and Skeletal Anomalies
Aniello Di Meglio, Giuliana Orlandi, Paolo Toscano
Pages 731-740
Dysmorphic Syndromes with Pterygium and Skeletal Malformations
Aniello Di Meglio, Luigi Manzo
Pages 741-750
Dysmorphic Syndromes with Hamartomatous and Skeletal Anomalies
Aniello Di Meglio, Olimpia Gabrielli
Pages 751-754
Dysmorphic Syndromes with Association of Progeria and Skeletal Malformations
Aniello Di Meglio, Lavinia Di Meglio
Pages 755-764
Syndromes Associating Anemia or Thrombocytopenia and Skeletal Defects
Aniello Di Meglio, Lavinia Di Meglio
Pages 765-775
Skeletal Anomalies and Twin Pregnancies
Aniello Di Meglio, Letizia Di Meglio
Pages 777-787
Hereditary Spinal Muscular Malformations
Aniello Di Meglio, Lavinia Di Meglio
Pages 789-795
Skeletal Syndromes Resulting from Metabolic Anomalies
Aniello Di Meglio, Luigi Manzo
Pages 797-808
Images of Bone Normality
Aniello Di Meglio, Olimpia Gabrielli
Pages 809-824
Fetal Biometry
Carmine Sica, Letizia Di Meglio, Giordana Sica
Pages 825-848
Prenatal Genetic Counseling
Fortunato Lonardo, Paolo Fontana
Pages 849-851
Genetic Investigations (The Synergy Between Obstetrician and Geneticist in the Prenatal Diagnosis of Congenital Defects)
Fortunato Lonardo, Paolo Fontana
Pages 853-855
Medical Legal Consideration in Ultrasound Diagnostics of Fetal Osteopathology
Massimo Niola, Pierpaolo Di Lorenzo, Claudia Casella
Pages 857-859
Doubt: Recognition or Diagnostic Accuracy?
Massimo Niola, Pierpaolo Di Lorenzo, Claudia Casella
Pages 861-865
Reporting
Massimo Niola, Pierpaolo Di Lorenzo, Claudia Casella
Pages 867-871
Conclusions
Aniello Di Meglio
Pages 873-874
Orthopedic Glossary
Aniello Di Meglio
Pages 875-878
Back Matter
Pages 879-885
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