Ultrasound of Fetal Syndromes, Text with DVD

This is the only book of its kind in prenatal diagnosis that details the most common sonographically detectable fetal syndromes. It has an easy-to-follow approach of using lists and patterns of malformations to generate a differential diagnosis of the possible syndrome involved. The reader is then led to the more detailed description of each syndrome to determine the exact final diagnosis. The new edition incorporates 3D ultrasound throughout the book, as well as 20 syndromes not previously covered.

Key Features

Cross-references sonographic fetal malformations with various syndromes to use patterns of malformation to arrive at the correct diagnosis.
Shows the specific features of each syndrome to help you determine how detectable the syndrome is or how likely the fetus is to have the syndrome.
Offers up-to-date information on how to manage borderline sonographic findings.
Helps you to not only identify what syndrome a given set of malformations is likely to represent, but also understand the clinical implications of that syndrome.

New to this Edition

Includes more than 500 new images, many of which are 3D ultrasound images.
Covers 20 new syndromes, including Perlman Syndrome, Cerebro-Costo-Mandibular Syndrome, Van der Woude Syndrome, Septo-Optic Dysplasia, Saethre-Chotzen Syndrome, Congenital Adrenal Hyperplasia, Congenital High Airway Obstruction Syndrome (CHAOS), Cloacal Extrophy Sequence, Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome, Opitz Syndrome, and DiGeorge Syndrome.
Takes full advantage of a new full color design to make reference even easier.
Presents ultrasound video ciips as they would appear in practice on the bonus DVD.

Contents
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.


Author Information
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.