图书简介
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.
Classification of osteodysplasias and study protocol.- Classification of osteodysplasias and dysmorphic syndromes with skeletal involvement.- Cranial anomalies.- Congenital deformities of the spine.- Deformities of the thoracic cage and pelvis.- Ectromelia.- Congenital deformities of the upper limb.- Congenital deformities of the lower limb.- Exogenous causes of osteopathy.- Osteodysplasias.- Lethal micromelic type osteodysplasias.- Rhizomelic dwarfism dysplasias.- Mesomelic dwarfism.- Mesoacromelic dysplasias.- Acromelic dysplasias.- Dysplasia with severe proximal-distal micromelia.- Osteodysplasias with isolated or concurrent involvement of epiphyses, metaphyses, and vertebral bodies.- Congenital sclerosing, hyperostotic, and dysmodelling osteopathies.- Rarefying and hypostotic osteopathies.- Osteopathies from anarchic tissue development.- Idiopathic osteolysis.- Chromosomal aberrations.- Dismorphic syndromes with skeletal anomalies.- Lethal or sublethal evolving syndromes.- Dismorphic syndromes with craniofacial anomalies.- Dismorphic syndromes with anomalies of the skull and extremities.- Dismorphic syndromes with anomalies of the oral cavity and extremities.- Dismorphic syndromes with predominant involvement of the limb skeleton.- Dismorphic syndromes with predominant involvement of the trunk.- Dismorphic syndromes with bone overgrowth.- Dismorphic syndromes with dolichostenomelia.- Dismorphic syndromes with joint stiffness.- Dismorphic syndromes with prenatal dwarfism and skeletal anomalies.- Dismorphic syndromes with cerebral and skeletal anomalies.- Dismorphic syndromes with ocular and skeletal anomalies.- Dismorphic syndromes with cardiac and skeletal anomalies.- Dismorphic syndromes with pulmonary and skeletal anomalies.- Dismorphic syndromes with renal and skeletal anomalies.- Dismorphic syndromes with genital and skeletal anomalies.- Dismorphic syndromes with cutaneous and skeletal anomalies.- Dismorphic syndromes with pterygium and skeletal malformations.- Dismorphic syndromes with amartomatous and skeletal anomalies.- Syndromes that combine progeria and skeletal malformations.- Syndromes that combine anemia or thrombocytopenia with skeletal defects.- Skeletal anomalies and twin pregnancies.- Hereditary muscle-spinal malformations.- Skeletal syndromes resulting from metabolic anomalies.- Images of normal bone.- Biometry.- Prenatal genetic counseling.- Genetic investigations (the synergy between obstetrician and geneticist in the prenatal diagnosis of congenital defects).- Legal aspects in the ultrasound diagnosis of fetal osteopathology.- Doubt: recognition or diagnostic accuracy?- Reporting.- Conclusions.- Glossary.- Analytical index.
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