Ultrasound of Fetal Syndromes, Text with DVD, 2nd Edition

Ultrasound of Fetal Syndromes

2nd Edition Text with DVD

By Beryl R. Benacerraf, MD, Clinical Professor of Obstetrics, Gynecology and Reproductive Biology, and Radiology, Harvard Medical School; Director of Vincent Memorial Hospital, Obstetrical Ultrasound Division, Massachusetts General Hospital, Boston, MA


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 Ventricle

2. SYNDROMES

SYNDROMES FEATURING GROWTH RESTRICTION

* Cornelia de Lange Syndrome
* Noonan Syndrome
* Russell-Silver Syndrome
* Seckel Syndrome
* Smith-Lemli-Opitz Syndrome

SYNDROMES FEATURING FETAL OVERGROWTH

* Beckwith-Wiedemann Syndrome
* Maternal Diabetes
* Perlman Syndrome

SYNDROMES 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 syndrome

SYNDROMES 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 Syndrome

LIMB 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) Syndrome

SKELETAL 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 Dysplasia

SYNDROMES FEATURING PRIMARILY CRANIOSYNOSTOSIS

* Antley-Bixler Syndrome
* Apert Syndrome
* Carpenter Syndrome
* Crouzon Syndrome
* Pfeiffer Syndrome
* Saethre-Chotzen Syndrome

MISCELLANEOUS SYNDROMES

* Cystic Fibrosis
* Fryns Syndrome
* Infantile Polycystic Kidney Disease
* Jarcho-Levin Syndrome

SYNDROMES FEATURING PRIMARILY SOFT TISSUE ANOMALIES

* Alpha-Thalassemia
* Aplasia Cutis Congenita (ACC)
* Harlequin Syndrome
* Klippel-Trenaunay-Weber Syndrome
* Marfan Syndrome
* Osteogenesis Imperfecta
* Proteus Syndrome
* Tuberous Sclerosis

SEQUENCES 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 Association

TERATOGENS

* Antibiotics
* Anti-Cancer Agents
* Anticoagulants
* Anticonvulsant Drugs
* Antithyroid Agents
* Hormones
* Tranquilizers and Antidepressants
* Miscellaneous
* Maternal Infections
* Cytomegalovirus (CMV)
* Parvovirus B19
* Rubella
* Syphilis
* Toxoplasmosis
* Varicella

SYNDROMES 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
* Teratoma

CHAPTER 2 APPENDIXES

2.1 Growth Restriction Syndromes
2.2 Facial Anomalies
2.3 Brain Anomaly Syndromes
2.4 Limb Abnormalities
2.5 Skeletal Dysplasias
2.6 Craniosynostosis
2.7 Miscellaneous Syndromes
2.8 Soft Tissue Anomalies
2.9 Sequences and Associations
2.10 Teratogens
2.11 Teratogens: Maternal Infections
2.12 Chromosomal Anomalies

3. Sonographic fetal findings with borderline significance ? the grey zone in fetal dianosis, Bryann Bromley and Beryl R. Benacerraf

4. Fetal anomalies and syndromes associated with monochorianic twins, Thomas D. Shipp and Beryl R. Benacerraf