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By Beryl 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
Description 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.
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
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