Differntial dianoses. Cataract -- Microphthalmia/anophthalmia (unilateral or bilateral) -- Hypotelorism/cyclopia (extreme) -- Hypertelorism -- Choanal atresia -- Micrognathia -- Facial asymmetry -- Nasal bone hypoplasia (otherwise normal nose) -- Facial cleft -- Ear anomalies -- Abnormal head shape -- Sluid collections in the head -- 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/or 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 -- Hyperechoic bowel -- Echogenic mass in abdomen -- 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 -- Clinodactyly -- Asymmetric lengths of extremities -- Slightly short femur -- Generalized short and bowed limbs -- Asymmetric limb reduction defects -- Short radial ray -- Club feet -- Rockerbottom feet -- Flared metaphyses or epithyses -- under-ossification of bone -- Cord cyst/mass -- Hydrops -- Decreased fetal activity -- Intrauterine growth restriction -- Enlarged placenta -- Polyhydramnios -- Oligohyframnios -- Heart defects -- Echogenic intracardiac focus -- Abnormal heart appearance --
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 -- Syndromes. Syndromes featuring growth restriction. Cornelia de Lange syndrome -- Noonan syndrome -- Russell-Silver syndrome -- Seckel syndrome -- Smith-Lemli-Opitz sydrome -- Syndromes featuring fetal overgrowth. Beckwith-Wiedermann syndrome -- Maternal diabetes -- Perlman syndrome -- Syndromes featuring primarily facial anomalies. Branchio-ocular-facial syndrome -- Cataracts -- Cerebrocostomandibular syndrome -- Cleft lip and palate -- Fraser syndrome -- Goldenhar syndrome -- Medial cleft face syndrome -- Microphthalmia/anophthalmia -- Nager syndrome -- Oral-facial-digital syndrome, type I (OFD1) -- 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. Aicardia syndrome -- Gorlin syndrome -- Hydrolethalis -- Joubert syndrome -- Meckel-Gruber syndrome -- Microcephaly -- Miller-Dieker syndrome (lissencephaly, type I) -- Neu-Laxova syndrome -- Septo-optic syndrome -- Walkter-Warburg syndrome -- X-linked hydrocephalus syndrome -- Limb abnormalities. Adams-Oliver syndrome -- Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome -- Fanconi anemia -- Femoral hyopplasi-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 -- Achodroplasia -- 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 -- Metatrophic 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-bixter syndrome -- Apert syndrome -- Carpenter syndrome -- Couzon 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-thalassernia -- Aplasia cutis congenita (ACC) -- Harlequin syndrome -- Klippel-Trenaunay-Weber syndrome -- Marfan syndrome -- Osteogenesis imperfecta -- Proteus syndrome -- Tuberous syndrome -- Sequence and associations. Amniotic band sequence -- Arthrogryposis -- Cardiosplenic syndromes (asplenia/polyspenia; heterotaxy) -- Caudal regression syndrome and sirenomelia -- Cerebro-occulo-facio-skeletal (CODS) syndrome -- CHARGE association -- Congenital adrenal hyperplasia -- Congenital high airway obstruction syndrome (CHAOS) -- Cloacal extrophy sequence -- Holoprosencephaly sequence -- Idiopathic arterial calcification of infancy --
Renal agenesis (Potter syndrome)
Tranquilizers and antidepressants
Syndromes featuring chromosomal anomalies. Cri-du-chat (distal 5p deletion syndrome)
Deletion 4p (Wolf-Hirschhorn syndrome)
Deletion 11q (Jacobsen syndrome)
Tetrasomy (Pallister-Killiam syndrome)
Trisomy 13 (Patau syndrome)
Trisomy 18 (Edwards syndrome)
Trisomy 21 (downs syndrome)
XO syndrome (Turner syndrome)
Tumors. Cystic hygroma/lymphangioma
