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ULTRASOUND OF FETAL SYNDROMES, 2ND EDITION BERYL R. BENACERRAF, M.D. CONTENTS 1 DIFFERENTIAL DIAGNOSES 1 Cataract 1 Microphthalmia/Anophthalmia (Unilateral or Bilateral) 2 Hypotelorism/Cyclopia (Extreme) 2 Hypertelorism 3 Choanal atresia Micrognathia 4 Facial asymmetry Maxillary Hypoplasia/Depressed Nasal Bridge 7 Facial Cleft 8 Ear Anomalies 11 Abnormal Head Shape 12 Strawberry 12 Lemon 12 Cloverleaf 12 Craniosynostosis 12 Frontal Bossing 13 Trigonocephaly 13 Skull Asymmetry 13 Brachycephaly 13 Fluid Collections in the Head 14 Bilateral 14 Unilateral 14 Intracranial cyst Ventriculomegaly 18 Macrocephaly 20 Microcephaly 20 Agenesis of the Corpus Callosum 21 Dandy-Walker Cyst or Vermian Hypoplasia 22 Echogenic Mass in the Head 24 Holoprosencephaly 25 Neural Tube Defect 26 Short Spine 27 Vertebral Body Segmental Abnormalities (Other Than Platyspondyly) 28 Platyspondyly 29 Rib abnormalities Mass on the Surface of the Fetus 30 Nuchal Membrane 31 Nuchal Thickening/Cystic Hygroma (First and Second Trimesters) 32 Anterior Abdominal Wall Defects 33 Omphalocele 34 Anterior Neck Mass 35 Rotation of the Heart 36 Intrathoracic Mass 37 Diaphragmatic Hernia 39 Narrow Chest 39 Abdominal Fluid Collection or Cyst 40 Abdominal Hyperechogenicity 44 Bowel Obstruction 46 Ascites 48 Absent Stomach 48 Hydronephrosis 48 Renal Agenesis (Unilateral or Bilateral) 50 Syndromes Associated with Various Renal Anomalies 51 Absent Bladder 53 Distended bladder Suprarenal Mass 53 Enlarged Kidneys 54 Genital Anomalies 57 Contractures of the Extremities 59 Clenched Hands 60 Polydactyly 61 Syndactyly 62 Clinodactyly Asymmetric Lengths of Extremities 64 Slightly Short Femur 65 Generalized Short and Bowed Limbs 65 Asymmetric Limb Reduction Defects 67 Short Radial Ray 68 Clubbed Foot 69 Rockerbottom feet Flared metaphyses or epithyses Under-Ossification of Bone 71 Cord Cyst/Mass 72 Hydrops 73 Decreased fetal activity Intrauterine Growth Restriction 74 Enlarged placenta Polyhydramnios Oligohydramnios Heart Defects 75 Echogenic Intracardiac Focus 77 Abnormal Heart Appearance 77 Enlarged Heart 77 Parallel Great Vessels 77 Enlarged Right Side of the Heart (Compared with the Left) 77 Smaller Right Side of the Heart (Compared with the Left) 77 Enlarged Left Side of the Heart (Compared with the Right) 81 Smaller Left Side of the Heart (Compared with the Right) 81 Single Great Vessel 81 Single Ventricle 81 2 SYNDROMES 83 SYNDROMES FEATURING GROWTH RESTRICTION 83 Cornelia de Lange Syndrome 83 Noonan Syndrome 85 Russell-Silver Syndrome 89 Seckel Syndrome 90 Smith-Lemli-Opitz Syndrome 91 SYNDROMES FEATURING FETAL OVERGROWTH 93 Beckwith-Wiedemann Syndrome 93 Maternal Diabetes 95 Perlman Syndrome SYNDROMES FEATURING PRIMARILY FACIAL ANOMALIES 97 Branchio-Ocular-Facial Syndrome Cataracts 97 Cerebro-Costo-Mandibular Syndrome Cleft Lip and Palate 98 Fraser Syndrome 102 Goldenhar Syndrome 104 Median Cleft Face Syndrome 106 Microphthalmia/Anophthalmia 108 Nager Syndrome 110 Oral-Facial-Digital Syndrome, Type I Oral-Facial-Digital Syndrome, Type II (Mohr Syndrome) 112 Pierre Robin Syndrome 114 Shprintzen Syndrome 115 Strickler Syndrome Treacher Collins Syndrome 117 Van der Woude syndrome SYNDROMES FEATURING PRIMARILY BRAIN ANOMALIES 119 Aicardi Syndrome Gorlin Syndrome 119 Hydrolethalus 121 Joubert Syndrome 124 Meckel-Gruber Syndrome 125 Microcephaly 128 Miller-Dieker Syndrome (Lissencephaly, Type I) 130 Neu-Laxova Syndrome 132 Septo-Optic Dysplasia Walker-Warburg Syndrome 134 X-Linked Hydrocephalus Syndrome 137 LIMB ABNORMALITIES 139 Adams-Oliver Syndrome Ectrodactyly¿Ectodermal Dysplasia¿Clefting (EEC) Syndrome 139 Fanconi Anemia 142 Femoral Hypoplasia¿Unusual Facies Syndrome 143 Femur-Fibula-Ulna (FFU) Syndrome 145 Freeman-Sheldon (Whistling Face) Syndrome 147 Holt-Oram Syndrome 148 Larsen Syndrome 150 Multiple Pterygium Syndrome (Lethal Type) 152 Roberts Syndrome 155 Thrombocytopenia¿Absent Radius (TAR) Syndrome 157 SKELETAL DYSPLASIAS 159 Achondrogenesis 159 Achondroplasia 163 Atelosteogenesis, Type I 166 Camptomelic Dysplasia 168 Chondrodysplasia Punctata 170 Cleidocranial Dysostosis 171 Diastrophic Dysplasia 173 Ellis-van Creveld Syndrome 176 Hypochondroplasia 177 Hypophosphatasia of the Lethal Type 178 Jeune Thoracic Dystrophy 181 Kniest Syndrome 183 Majewski Syndrome 184 Metatropic Dysplasia 187 Osteopetrosis (Lethal Type) 188 Short Rib¿Polydactyly Syndromes (SRPS): Types I (Saldino-Noonan) and III (Naumoff) 189 Spondyloepiphyseal Dysplasia Congenita 191 Thanatophoric Dysplasia 193 SYNDROMES FEATURING PRIMARILY CRANIOSYNOSTOSIS 200 Antley-Bixler Syndrome Apert Syndrome 200 Carpenter Syndrome 202 Crouzon Syndrome 204 Pfeiffer Syndrome 206 Saethre-Chotzen Syndrome MISCELLANEOUS SYNDROMES 209 Cystic Fibrosis 209 Fryns Syndrome 212 Infantile Polycystic Kidney Disease 214 Jarcho-Levin Syndrome 216 SYNDROMES FEATURING PRIMARILY SOFT TISSUE ANOMALIES 220 Alpha-Thalassemia 220 Aplasia Cutis Congenita (ACC) 222 Harlequin Syndrome 223 Klippel-Trenaunay-Weber Syndrome 225 Marfan Syndrome 227 Osteogenesis Imperfecta 229 Proteus Syndrome 236 Tuberous Sclerosis 237 SEQUENCES AND ASSOCIATIONS 239 Amniotic Band Sequence 239 Arthrogryposis 244 Cardiosplenic Syndromes (Asplenia/Polysplenia; Heterotaxy) 246 Caudal Regression Syndrome and Sirenomelia 250 Cerebro-Occulo-Facio-Skeletal (COFS) Syndrome CHARGE Association 255 Congenital Adrenal Hyperplasia Congenital High Airway Obstruction Syndrome (CHAOS) Cloacal Extrophy Sequence Holoprosencephaly Sequence 257 Idiopathic Arterial Calcification of Infancy Klippel-Feil Sequence 260 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome MURCS Association 262 Opitz Syndrome Pena Shokeir Syndrome 263 Pentalogy of Cantrell 267 Prune-Belly Syndrome 269 Renal Agenesis (Potter Syndrome) 272 Scimitar Syndrome 274 Spinal Dysraphism 275 VATER Association 285 TERATOGENS 287 Antibiotics 288 Anti-Cancer Agents 288 Anticoagulants 288 Anticonvulsant Drugs 289 Antithyroid Agents 289 Hormones 290 Tranquilizers and Antidepressants 290 Miscellaneous 291 Maternal Infections 293 Cytomegalovirus (CMV) 293 Parvovirus B19 297 Rubella 298 Syphilis 299 Toxoplasmosis 300 Varicella 302 SYNDROMES FEATURING CHROMOSOMAL ANOMALIES 304 Cri-du-chat (Distal 5p deletion syndrome) Deletion 4p (Wolf-Hirsch horn Syndrome) 304 Deletion 11q (Jacobsen Syndrome) 305 DiGeorge syndrome Tetrasomy 12p (Pallister-Killian Syndrome) 306 Triploidy 308 Trisomy9 312 Trisomy 10 314 Trisomy 13 (Patau Syndrome) 316 Trisomy 18 (Edwards Syndrome) 322 Trisomy 21 (Down Syndrome) 328 Trisomy 22 339 XO Syndrome (Turner Syndrome) 340 TUMORS 343 Cystic Hygroma/Lymphangioma 343 Hemangioma 348 Neuroblastoma 349 Teratoma 351 CHAPTER 2 APPENDIXES 357 2.1 Growth Restriction Syndromes 358 2.2 Facial Anomalies 360 2.3 Brain Anomaly Syndromes 362 2.4 Limb Abnormalities 364 2.5 Skeletal Dysplasias 368 2.6 Craniosynostosis 374 2.7 Miscellaneous Syndromes 376 2.8 Soft Tissue Anomalies 378 2.9 Sequences and Associations 380 2.10 Teratogens 386 2.11 Teratogens: Maternal Infections 400 2.12 Chromosomal Anomalies 402 CHAPTER 3: Sonographic fetal findings with borderline significance ¿ the grey zone in fetal dianosis. Bryann Bromley and Beryl R. Benacerraf CHAPTER 4 Fetal anomalies and syndromes associated with monochorianic twins Thomas D. Shipp and Beryl R. Benacerraf
Library of Congress Subject Headings for this publication:
Fetus -- Ultrasonic imaging.
Fetus -- Abnormalities -- Diagnosis.
Fetus -- Diseases -- Diagnosis.
Prenatal diagnosis.
Fetal Diseases -- ultrasonography.
Abnormalities -- ultrasonography.
Diagnosis, Differential.
Fetus -- abnormalities.
Ultrasonography, Prenatal.