Ultrasound of Fetal Syndromes

1. DIFFERENTIAL DIAGNOSES* Cataract* Microphthalmia/Anophthalmia (Unilateral or Bilateral)* Hypotelorism/Cyclopia (Extreme)* Hypertelorism* Choanal atresia* Micrognathia* Facial asymmetry* Maxillary Hypoplasia/Depressed Nasal Bridge* Facial Cleft* Ear Anomalies* Abnormal Head Shape* Strawberry* Lemon* Cloverleaf* Craniosynostosis* Frontal Bossing* Trigonocephaly* Skull Asymmetry* Brachycephaly* Fluid Collections in the Head* Bilateral* Unilateral* Intracranial cyst* Ventriculomegaly* Macrocephaly* Microcephaly* Agenesis of the Corpus Callosum* Dandy-Walker Cyst or Vermian Hypoplasia* Echogenic Mass in the Head* Holoprosencephaly* Neural Tube Defect* Short Spine* Vertebral Body Segmental Abnormalities (Other * Than Platyspondyly)* Platyspondyly* Rib abnormalities* Mass on the Surface of the Fetus* Nuchal Membrane* Nuchal Thickening/Cystic Hygroma (First and Second Trimesters)* Anterior Abdominal Wall Defects* Omphalocele* Anterior Neck Mass* Rotation of the Heart* Intrathoracic Mass* Diaphragmatic Hernia* Narrow Chest* Abdominal Fluid Collection or Cyst* Abdominal Hyperechogenicity* Bowel Obstruction* Ascites* Absent Stomach* Hydronephrosis* Renal Agenesis (Unilateral or Bilateral)* Syndromes Associated with Various Renal Anomalies* Absent Bladder* Distended bladder* Suprarenal Mass* Enlarged Kidneys* Genital Anomalies* Contractures of the Extremities* Clenched Hands* Polydactyly* Syndactyly* Clinodactyly* Asymmetric Lengths of Extremities* Slightly Short Femur* Generalized Short and Bowed Limbs* Asymmetric Limb Reduction Defects* Short Radial Ray* Clubbed Foot* Rockerbottom feet* Flared metaphyses or epithyses* Under-Ossification of Bone* Cord Cyst/Mass* Hydrops* Decreased fetal activity* Intrauterine Growth Restriction* Enlarged placenta* Polyhydramnios* Oligohydramnios* Heart Defects* Echogenic Intracardiac Focus* Abnormal Heart Appearance* Enlarged Heart* Parallel Great Vessels* Enlarged Right Side of the Heart (Compared with the Left)* Smaller Right Side of the Heart (Compared with the Left)* Enlarged Left Side of the Heart (Compared with the Right)* Smaller Left Side of the Heart (Compared with the Right)* Single Great Vessel* Single Ventricle2. SYNDROMESSYNDROMES FEATURING GROWTH RESTRICTION* Cornelia de Lange Syndrome* Noonan Syndrome* Russell-Silver Syndrome* Seckel Syndrome* Smith-Lemli-Opitz SyndromeSYNDROMES FEATURING FETAL OVERGROWTH* Beckwith-Wiedemann Syndrome* Maternal Diabetes* Perlman SyndromeSYNDROMES FEATURING PRIMARILY FACIAL ANOMALIES* Branchio-Ocular-Facial Syndrome* Cataracts* Cerebro-Costo-Mandibular Syndrome* Cleft Lip and Palate* Fraser Syndrome* Goldenhar Syndrome* Median Cleft Face Syndrome* Microphthalmia/Anophthalmia* Nager Syndrome* Oral-Facial-Digital Syndrome, Type I* Oral-Facial-Digital Syndrome, Type II (Mohr Syndrome)* Pierre Robin Syndrome* Shprintzen Syndrome* Strickler Syndrome* Treacher Collins Syndrome* Van der Woude syndromeSYNDROMES FEATURING PRIMARILY BRAIN ANOMALIES* Aicardi Syndrome* Gorlin Syndrome* Hydrolethalus* Joubert Syndrome* Meckel-Gruber Syndrome* Microcephaly* Miller-Dieker Syndrome (Lissencephaly, Type I)* Neu-Laxova Syndrome* Septo-Optic Dysplasia* Walker-Warburg Syndrome* X-Linked Hydrocephalus SyndromeLIMB ABNORMALITIES* Adams-Oliver Syndrome* Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) Syndrome* Fanconi Anemia* Femoral Hypoplasia-Unusual Facies Syndrome* Femur-Fibula-Ulna (FFU) Syndrome* Freeman-Sheldon (Whistling Face) Syndrome* Holt-Oram Syndrome* Larsen Syndrome* Multiple Pterygium Syndrome (Lethal Type)* Roberts Syndrome* Thrombocytopenia-Absent Radius (TAR) SyndromeSKELETAL DYSPLASIAS* Achondrogenesis* Achondroplasia* Atelosteogenesis, Type I* Camptomelic Dysplasia* Chondrodysplasia Punctata* Cleidocranial Dysostosis* Diastrophic Dysplasia* Ellis-van Creveld Syndrome* Hypochondroplasia* Hypophosphatasia of the Lethal Type* Jeune Thoracic Dystrophy* Kniest Syndrome* Majewski Syndrome* Metatropic Dysplasia* Osteopetrosis (Lethal Type)* Short Rib-Polydactyly Syndromes (SRPS): Types I (Saldino-Noonan) and III (Naumoff)* Spondyloepiphyseal Dysplasia Congenita* Thanatophoric DysplasiaSYNDROMES FEATURING PRIMARILY CRANIOSYNOSTOSIS* Antley-Bixler Syndrome* Apert Syndrome* Carpenter Syndrome* Crouzon Syndrome* Pfeiffer Syndrome* Saethre-Chotzen SyndromeMISCELLANEOUS SYNDROMES* Cystic Fibrosis* Fryns Syndrome* Infantile Polycystic Kidney Disease* Jarcho-Levin SyndromeSYNDROMES FEATURING PRIMARILY SOFT TISSUE ANOMALIES* Alpha-Thalassemia* Aplasia Cutis Congenita (ACC)* Harlequin Syndrome* Klippel-Trenaunay-Weber Syndrome* Marfan Syndrome* Osteogenesis Imperfecta* Proteus Syndrome* Tuberous SclerosisSEQUENCES AND ASSOCIATIONS* Amniotic Band Sequence* Arthrogryposis* Cardiosplenic Syndromes (Asplenia/Polysplenia; Heterotaxy)* Caudal Regression Syndrome and Sirenomelia* Cerebro-Occulo-Facio-Skeletal (COFS) Syndrome* CHARGE Association* Congenital Adrenal Hyperplasia* Congenital High Airway Obstruction Syndrome (CHAOS)* Cloacal Extrophy Sequence* Holoprosencephaly Sequence* Idiopathic Arterial Calcification of Infancy* Klippel-Feil Sequence* Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome* MURCS Association* Opitz Syndrome* Pena Shokeir Syndrome* Pentalogy of Cantrell* Prune-Belly Syndrome* Renal Agenesis (Potter Syndrome)* Scimitar Syndrome* Spinal Dysraphism* VATER AssociationTERATOGENS* Antibiotics* Anti-Cancer Agents* Anticoagulants* Anticonvulsant Drugs* Antithyroid Agents* Hormones* Tranquilizers and Antidepressants* Miscellaneous* Maternal Infections* Cytomegalovirus (CMV)* Parvovirus B19* Rubella* Syphilis* Toxoplasmosis* VaricellaSYNDROMES FEATURING CHROMOSOMAL ANOMALIES* Cri-du-chat (Distal 5p deletion syndrome)* Deletion 4p (Wolf-Hirsch horn Syndrome)* Deletion 11q (Jacobsen Syndrome)* DiGeorge syndrome* Tetrasomy 12p (Pallister-Killian Syndrome)* Triploidy* Trisomy9* Trisomy 10* Trisomy 13 (Patau Syndrome)* Trisomy 18 (Edwards Syndrome)* Trisomy 21 (Down Syndrome)* Trisomy 22* XO Syndrome (Turner Syndrome)TUMORS* Cystic Hygroma/Lymphangioma* Hemangioma* Neuroblastoma* TeratomaCHAPTER 2 APPENDIXES2.1 Growth Restriction Syndromes 2.2 Facial Anomalies2.3 Brain Anomaly Syndromes2.4 Limb Abnormalities2.5 Skeletal Dysplasias2.6 Craniosynostosis2.7 Miscellaneous Syndromes2.8 Soft Tissue Anomalies2.9 Sequences and Associations2.10 Teratogens2.11 Teratogens: Maternal Infections2.12 Chromosomal Anomalies3. Sonographic fetal findings with borderline significance - the grey zone in fetal dianosis, Bryann Bromley and Beryl R. Benacerraf4. Fetal anomalies and syndromes associated with monochorianic twins, Thomas D. Shipp and Beryl R. Benacerraf