Foreword. About the authors. Acknowledgements. Normal fetal skeletal growth and development. Diagnosis of fetal skeletal dysplasias. Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders. FGFR3 chondrodysplasia group. Type 2 collagen group. Type 11 collagen group. Sulphation disorders group. Perlecan group. Filamin group. TRPV4 group. Short-rib dysplasia (with or without polydactyly) group. Metaphyseal chondrodysplasias. Severe spondylodysplastic dysplasias. Acromelic dysplasias. Acromesomelic dysplasias. Mesomelic and rhizo-mesomelic dysplasias. Bent bones dysplasias. Slender bone dysplasia group. Dysplasias with multiple joint dislocations. Chondrodysplasia punctata (CDP) group. Neonatal osteosclerotic dysplasias. Increased bone density group (without modification of bone shape). Increased bone density with metaphyseal and/or diaphyseal involvement. Decreased bone density group. Defective mineralization group. Lysosomal storage diseases with skeletal involvement (dysostosis multiplex group). Cleidocranial dysplasia group. Craniosynostosis syndromes and isolated cranial ossification defects group. Dysostoses with predominant craniofacial involvement. Disorders with predominant vertebral with and without costal involvement. Brachydactylies (with or without extraskeletal manifestations). Limb hypoplasia - reduction defects group. Polydactyly-syndactyly-triphalangism group. Syndromes not included in the International Nomenclature Classification. Appendices. Synopsis of fetal development. Normal development of the fetal skeleton. Growth charts. Gamuts.
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow
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