Fetal radiology : a diagnostic atlas ; with 113 figures in 238 individual illustrations and 51 tables

Intrinsic errors of skeletal development are individually rare but of clinical importance because of their overall frequency and their impact on a patient's life. Sonography has become a routine component of prenatal care, and many of these disorders are diagnosed prenatally. Postnatally, the prenatal diagnosis has to be verified. To this end, fetal radiography is an effective, simple and economic way to establish a diagnosis or to narrow the number of diagnostic possibilities sufficiently to enable pathological, biochemical or molecular studies to be used in the quest for a specific diagnosis. Equally important, a correct diagnosis is required for correct prognostication and parental counseling. This book has been written to assist in the postnatal diagnosis of fetal errors of skeletal development. Fetal Radiology: A Diagnostic Atlas, Second Edition Front-matter Title Page Copyright Page Preface to the Second Edition Table of Contents Acknowledgements Introduction 1 Development of the Normal Fetal Skeleton Introduction Femur Tibia Humerus Radius Ulna 2 Differential Diagnosis of Single Skeletal Defects Introduction References Limbs Amelia – Amputation – Phocomelia References Radius and/or Thumb: Aplasia, Hypoplasia [1] References Radio-ulnar Synostosis References Humerus: Aplasia, Hypoplasia References Tibia: Aplasia, Hypoplasia References Fibula: Aplasia, Hypoplasia References Femur: Aplasia, Hypoplasia References Femur: Bowing References Stippled Epiphyses – Stippled Ossification of Cartilage References Hands/Feet: Absent References Hands/Feet: Split/Cleft/Ectrodactyly References Hands/Feet: Preaxial Polydactyly References Hands/Feet: Postaxial Polydactyly References Skull Premature Cranial Synostosis/Cloverleaf Skull References Unossified and Hypo-ossified Calvaria References Encephalocele References Anencephaly/Myelomeningocele/Spina Bifida References Spine Vertebral Segmentation Defects/Hemivertebrae/Vertebral Fusion References Pelvic-Sacral Abnormalities References Coronal Clefts of Vertebral Bodies References Platyspondyly Ventral Body Wall Defects Ectopia Cordis References Ventral Wall Defects/Omphalocele/Gastroschisis References 3 Skeletal Dysplasias Introduction References A. Skeletal Dysplasias with Prominent Shortness of the Tubular Bones Thanatophoric Dysplasia I References Thanatophoric Dysplasia II References Achondroplasia References Metatropic Dysplasia References Fibrochondrogenesis References Schneckenbecken Dysplasia References Lethal Metaphyseal Chondrodysplasia, Sedaghatian Type References Achondrogenesis 1A References Achondrogenesis 1B References Achondrogenesis Type 2/ Hypochondrogenesis References Platyspondylic Dysplasia, Torrance-Luton Type References Kniest Dysplasia/Spondyloepiphyseal Dysplasia Congenita References B. Skeletal Dysplasias with Congenital Bowing and Normal Bone Density Dyssegmental Dysplasia References Schwartz-Jampel Syndrome References Cartilage-Hair Hypoplasia References Campomelic Dysplasia References C. Skeletal Dysplasia with Decreased Bone Density, with or without Bowing Antley-Bixler Syndrome References Osteogenesis Imperfecta References Infantile Hypophosphatasia References Jansen Metaphyseal Dysplasia References Stüve-Wiedemann Syndrome References Oto-palato-digital Syndrome Type II References D. Skeletal Dysplasias with Slender Tubular Bones Fetal a/Hypokinesia Sequence References Osteocraniostenosis References Gracile Bone Dysplasia References Microcephalic Osteodysplastic Primordial Dwarfism, Type 1 References Microcephalic Osteodysplastic Primordial Dwarfism, Type 2 References E. Skeletal Dysplasias with Thick Tubular Bones Mucolipidosis II References Infantile Cortical Hyperostosis References F. Skeletal Dysplasias with Short Ribs, with or without Polydactyly Short Rib (-Polydactyly) Syndrome, Saldino-Noonan/Verma-Naumoff Type References Short Rib (-Polydactyly) Syndrome, Beemer-Langer Type References Asphyxiating Thoracic Dysplasia References Short Rib (-Polydactyly) Syndrome, Majewski Type References Ellis-van Creveld Syndrome References G. Chondrodysplasia Punctata Group Greenberg Dysplasia References Chondrodysplasia Punctata, X-Linked Dominant Type References Chondrodysplasia Punctata, X-Linked Recessive Type References Chondrodysplasia Punctata, Rhizomelic Type References H. Skeletal Dysplasias with Multiple Dislocations Larsen Syndrome References Atelosteogenesis References Desbuquois Dysplasia References I. Skeletal Dysplasias with Prominent Involvement of the Humeri or Clavicles De la Chapelle Dysplasia References Diastrophic Dysplasia References Omodysplasia References Cleidocranial Dysplasia References K. Dysplasias with Prominent Involvement of the Mesial and Acral Skeleton Mesomelic Dysplasia, Langer Type References Robinow Syndrome References Nievergelt Syndrome References Grebe Dysplasia References L. Skeletal Dysplasias with Increased Bone Density Infantile Osteopetrosis References Blomstrand Syndrome References Lenz-Majewski Hyperostotic Dysplasia References Back-matter Annex Amelia – Amputation – Phocomelia Radius and/or Thumb Aplasia, Hypoplasia Radio-ulnar Synostosis Ulna, aplasia , hypoplasia Humerus, aplasia, hypoplasia Tibia, aplasia, hypoplasia Fibula, aplasia, hypoplasia Femur, aplasia, hypoplasia Stippled epiphyses – stippled ossification of cartilage Absent hands/feet Split/cleft/ectrodactyly of hands and/or feet Preaxial polydactyly of hands and/or feet Postaxial polydactyly of hands and/or feet Premature cranial synostosis/cloverleaf skull Un-/hypo-ossified calvaria Encephalocele Anencephaly/myelomeningocele/spina bifida Vertebral segmentation defects/hemivertebrae/vertebral fusion Pelvic-sacral abnormalities Coronal clefts of vertebral bodies Ectopia cordis Ventral wall defects/omphalocele/gastroschisis Subject Index