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.
Table Of Contents
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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
Ultrasound of Fetal Syndromes, 2nd Edition
Benacerraf
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
Oli