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27 Cards in this Set
- Front
- Back
Amniotic band syndrome is? |
rare condition caused by disruption of amnion early in pregnancy that results in bands of tissue that trap and constrict portions of the fetal body |
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The most severe condition of amniotic band syndrome is? |
limb-body-wall complex (LBWC), can include marked fetal scoliosis |
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What severe abnormalities can result from amniotic band syndrome? |
-carniofacial defects -limb defects -visceral defects |
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Sono findings of amniotic band syndrome? |
-echogenic amniotic bands attached to the fetus -various fetal anomalies ( at least 2) -fetal postural deformities -various secondary abnormalities |
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Trisomy 13/Patau's syndrome is associated with? |
characteristic faces, psychomotor retardation and multiple anatomic anomalies |
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Sono features of Patau's syndrome? |
-holoprosencephaly -clef lip/palate -IUGR -polydactyly -single umbilical artery |
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Trisomy 18/ Edward's syndrome is associated with ? |
psychomotor retardation, growth deficiency and other abnormalities |
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With Edward's syndrome ____ or ____ is common and have an average life span of ___ days. |
-intrauterine fetal demise (IUFD) or still birth -5 days
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Sono findings of Trisomy 18? |
-overlapping fingers/flexed hands -IUGR -polyhydramnios -ASD, VSD -single umbilical artery -choroid plexus cysts -micrognathia -"strawberry" shaped cranium -rocker bottom feet |
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Sono findings of Trisomy 21 or Down syndrome? |
-nuchal fold measuring > 6 mm between 15-21 weeks -small or absent nasal bones -many other abnormalities |
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Turner's syndrome/ monosomy X (45XO) is? |
chromosomal syndrome attributed to complete or partial absence of an X chromosome |
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Sono findings of Turner's sydrome? |
-cystic hygroma, lymphedema, diffuse lymphagiectasis -non-immune hydrops -horseshoe kidney, renal agensis |
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Sono findings of Turner's syndrome postnatally? |
-hypoplastic/aplastic uterus -ovarian dysgenesis/streak like ovaries |
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Beckwith-Weidmann Syndrome is? |
group of congenital disorders characterized by the presence of EMG anomalies (( i.e. exomphalos (omphalocele), macroglassia and gigantism)) |
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Beckwith-Weidmann syndrome is associated with? |
-cardiac malformations -placental enlargement -placental chorioangiomas -postnatal renal tumor (Wilm's tumor) |
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Pentalogy of Cantrell is? |
association of two major defects: omphaocele and ectopia cordis
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Meckel-Gruber Syndrome is an autosomal recessive condition including? |
-encephalocele -polycystic kidneys -polydactyly -clef lip |
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VATER Association or VACTERL Association is? |
-Verterbral anomalies -Anal atresia/imperforate anus -Cardiac anomalies -T} tracheoesophageal -E} fistula -Renal and Radial ray anomalies -Limb deformities
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Fetal Alochol Syndrome is? |
results from excessive maternal alcohol consumption |
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Fetal Alcohol syndrome is associated with? |
-IUGR -mental deficiency -microcephaly -micropthalmos (enlarge of one or both eyes) -cardiac septal defects -hypospadias ( congenital defect where the urethra is on the underside of the penis) and other genital anomalies
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Holt-Oram Syndrome is? |
hereditary syndrome of malformations of the heart and upper extremities
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Holt-Oram Syndrome is associated with? |
-varied hand anomalies -cardiac septal defects |
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Noonan Syndrome is a genetic disorder that includes? |
-facial anomalies ( hypertelorism, low set ears) -cardiac abnormalities -lymphedema -cystic hygroma |
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Treacher-Collins Syndrome (Mandibulofacial Dysostosis) is? |
autosomal dominant disorder that affects the ears, mandible and palate |
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Treacher-Collins Syndrome is associated with? |
-small mandible -micrognathia -autosomal trisomy -holoproencephaly |
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Ellis-Van Creveld Syndrome has a high prevalence in the ? |
amish |
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Ellis-Van Creveld Syndrome is associated with? |
-polydactyly -thoracic dysplasia -mild tomoderate limb shortening -50% have congenital heart disease, most commonly ASDs. |