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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

The most severe condition of amniotic band syndrome is?

limb-body-wall complex (LBWC), can include marked fetal scoliosis

What severe abnormalities can result from amniotic band syndrome?

-carniofacial defects

-limb defects

-visceral defects

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

Trisomy 13/Patau's syndrome is associated with?

characteristic faces, psychomotor retardation and multiple anatomic anomalies

Sono features of Patau's syndrome?


-clef lip/palate



-single umbilical artery

Trisomy 18/ Edward's syndrome is associated with ?

psychomotor retardation, growth deficiency and other abnormalities

With Edward's syndrome ____ or ____ is common and have an average life span of ___ days.

-intrauterine fetal demise (IUFD) or still birth

-5 days

Sono findings of Trisomy 18?

-overlapping fingers/flexed hands




-single umbilical artery

-choroid plexus cysts


-"strawberry" shaped cranium

-rocker bottom feet

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

Turner's syndrome/ monosomy X (45XO) is?

chromosomal syndrome attributed to complete or partial absence of an X chromosome

Sono findings of Turner's sydrome?

-cystic hygroma, lymphedema, diffuse lymphagiectasis

-non-immune hydrops

-horseshoe kidney, renal agensis

Sono findings of Turner's syndrome postnatally?

-hypoplastic/aplastic uterus

-ovarian dysgenesis/streak like ovaries

Beckwith-Weidmann Syndrome is?

group of congenital disorders characterized by the presence of EMG anomalies (( i.e. exomphalos (omphalocele), macroglassia and gigantism))

Beckwith-Weidmann syndrome is associated with?

-cardiac malformations

-placental enlargement

-placental chorioangiomas

-postnatal renal tumor (Wilm's tumor)

Pentalogy of Cantrell is?

association of two major defects: omphaocele and ectopia cordis

Meckel-Gruber Syndrome is an autosomal recessive condition including?


-polycystic kidneys


-clef lip

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

Fetal Alochol Syndrome is?

results from excessive maternal alcohol consumption

Fetal Alcohol syndrome is associated with?


-mental deficiency


-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

Holt-Oram Syndrome is?

hereditary syndrome of malformations of the heart and upper extremities

Holt-Oram Syndrome is associated with?

-varied hand anomalies

-cardiac septal defects

Noonan Syndrome is a genetic disorder that includes?

-facial anomalies ( hypertelorism, low set ears)

-cardiac abnormalities


-cystic hygroma

Treacher-Collins Syndrome (Mandibulofacial Dysostosis) is?

autosomal dominant disorder that affects the ears, mandible and palate

Treacher-Collins Syndrome is associated with?

-small mandible


-autosomal trisomy


Ellis-Van Creveld Syndrome has a high prevalence in the ?


Ellis-Van Creveld Syndrome is associated with?


-thoracic dysplasia

-mild tomoderate limb shortening

-50% have congenital heart disease, most commonly ASDs.