Schumacher R. Fetal radiology: a diagnostic atlas / R.Schumacher, L.H.Seaver, J.Spranger. - 2nd ed. - New York: Springer, 2010. - x, 214 p.: ill. - Ind.: p.209-212. - ISBN 978-3-642-03559-3  Место хранения:   054 | Международный томографический центр CO РАН | Новосибирск

Оглавление / Contents

Introduction .................................................... 1 1 Development of the Normal Fetal Skeleton Introduction ................................................. 3 2 Differential Diagnosis of Single Skeletal Defects Introduction ................................................ 31 Limbs Amelia - Amputation - Phocomelia .......................... 32 Radius and/or Thumb: Aplasia, Hypoplasia .................. 36 Radio-ulnar Synostosis .................................... 40 Ulna: Aplasia, Hypoplasia ................................. 42 Humerus: Aplasia, Hypoplasia .............................. 44 Tibia: Aplasia, Hypoplasia ................................ 46 Fibula: Aplasia, Hypoplasia ............................... 48 Femur: Aplasia, Hypoplasia ................................ 50 Femur: Bowing ............................................. 53 Stippled Epiphyses - Stippled Ossification of Cartilage ... 56 Hands/Feet: Absent ........................................ 58 Hands/Feet: Split/Cleft/Ectrodactyly ...................... 60 Hands/Feet: Preaxial Polydactyly .......................... 63 Hands/Feet: Postaxial Polydactyly ......................... 66 Skull Premature Cranial Synostosis/Cloverleaf Skull ............. 70 Unossified and Hypo-ossified Calvaria ..................... 73 Encephalocele ............................................. 75 Anencephaly/Myelomeningocele/Spina bifida ................. 78 Spine Vertebral Segmentation Defects/Hemivertebrae/Vertebral Fusion .................................................... 80 Pelvic-Sacral Abnormalities Sacral Agenesis/Hypogenesis/Caudal Dysplasia; Pubic Bone Dysgenesis ........................................ 86 Coronal Clefts ofVertebral Bodies ......................... 90 Platyspondyly ............................................. 93 Ventral Body Wall Defects Ectopia Cordis ............................................ 94 Ventral Wall Defects/Omphalocele/Gastroschisis ............ 96 3 Skeletal Dysplasias Introduction ................................................ 99 A. Skeletal Dysplasias with Prominent Shortness of the Tubular Bones Thanatophoric Dysplasia I ................................ 100 Thanatophoric Dysplasia II ............................... 102 Achondroplasia ........................................... 104 Metatropic Dysplasia ..................................... 106 Fibrochondrogenesis ...................................... 108 Schneckenbecken Dysplasia ................................ 110 Lethal Metaphyseal Chondrodysplasia, Sedaghatian Type .... 111 Achondrogenesis IA ....................................... 112 Achondrogenesis IB ....................................... 113 Achondrogenesis Type 2/Hypochondrogenesis ................ 114 Platyspondylic Dysplasia, Torrance-Luton Type ............ 116 Kniest Dysplasia/Spondyloepiphyseal Dysplasia Congenita .. 118 В. Skeletal Dysplasias with Congenital Bowing and Normal Bone Density Dyssegmental Dysplasia ..................................... 120 Schwartz-Jampel Syndrome ................................... 122 Cartilage-Hair Hypoplasia .................................. 123 Campomelic Dysplasia ....................................... 124 C. Skeletal Dysplasia with Decreased Bone Density, with or without Bowing Antley-Bixler Syndrome ..................................... 126 Osteogenesis Imperfecta .................................... 128 Infantile Hypophosphatasia ................................. 131 Jansen Metaphyseal Dysplasia ............................... 133 Stiive-Wiedemann Syndrome .................................. 134 Oto-palato-digital Syndrome Type II ........................ 136 D. Skeletal Dysplasias with Slender Tubular Bones Fetal a/Hypokinesia Sequence ............................... 138 Osteocraniostenosis ........................................ 140 Gracile Bone Dysplasia ..................................... 142 Microcephalic Osteodysplastic Primordial Dwarfism, Type 1 .. 143 Microcephalic Osteodysplastic Primordial Dwarfism, Type 2 .. 144 E. Skeletal Dysplasias with Thick Tubular Bones Mucolipidosis II ........................................... 145 Infantile Cortical Hyperostosis ............................ 146 F. Skeletal Dysplasias with Short Ribs, with or without Polydactyly SRP, Saldino-Noonan/Verma-Naumoff Type ..................... 147 SRP, Beemer-Langer Type .................................... 149 Asphyxiating Thoracic Dysplasia ............................ 150 SRP, Majewski Type ......................................... 152 Ellis-van Creveld Syndrome ................................. 153 G. Chondrodysplasia Punctata Group Greenberg Dysplasia ........................................ 155 Chondrodysplasia Punctata, X-linked Dominant Type .......... 156 Chondrodysplasia Punctata, X-linked Recessive Type ......... 158 Chondrodysplasia Punctata, Rhizomelic Type ................. 159 H. Skeletal Dysplasias with Multiple Dislocations Larsen Syndrome ............................................ 161 Atelosteogenesis ........................................... 163 Desbuquois Dysplasia ....................................... 165 I. Skeletal Dysplasias with Prominent Involvement of the Humeri or Clavicles De la Chapelle Dysplasia ................................... 167 Diastrophic Dysplasia ...................................... 168 Omodysplasia ............................................... 170 Cleidocranial Dysplasia .................................... 171 K. Dysplasias with Prominent Involvement of the Mesial and Acral Skeleton Mesomelic Dysplasia, Langer Type ........................... 173 Robinow Syndrome ........................................... 174 Nievergelt Syndrome ........................................ 176 Grebe Dysplasia ............................................ 177 L. Skeletal Dysplasias with Increased Bone Density Infantile Osteopetrosis .................................... 179 Blomstrand Syndrome ........................................ 181 Lenz-Majewski Hyperostotic Dysplasia ....................... 182 Annex ......................................................... 184 Subject Index ................................................. 209