Radiology Key

Abstract Chromosome abnormalities can be the cause of early pregnancy loss, fetal malformations, and stillbirth. Triploidy is one such chromosome abnormality that leads to a complete extra set of chromosomes….

Abstract Trisomy 13 (Patau syndrome) is the third most common autosomal trisomy in newborns. It results from an extra chromosome 13 secondary to nondisjunction or translocation. In the United States,…

Abstract VACTERL ( v ertebral, a nal, c ardiac, t racheal, e sophageal, r enal, and l imb anomalies) association is a nonrandom association of congenital malformations. Associated findings of…

Abstract Noonan syndrome is a disorder characterized by specific facial dysmorphisms, cardiovascular defects, short stature, and variable developmental delay. Noonan syndrome should be suspected prenatally in any fetus with cystic…

Abstract Poland sequence refers to a congenital unilateral absence of the sternal costal portion of the pectoralis major muscle and ipsilateral upper limb anomalies. The incidence of Poland sequence is…

Abstract Roberts syndrome is a rare genetic disorder characterized by fetal growth restriction, limb reductions, and craniofacial abnormalities. Upper extremities are more severely affected than lower extremities. It is caused…

Abstract Prune-belly syndrome is characterized by urologic abnormalities, flaccidity, or dysplasia in abdominal wall musculature, and cryptorchidism (in males). Because of the poorly developed abdominal wall muscles, the infant’s abdomen…

Abstract Pierre Robin sequence is characterized by retro/micrognathia, glossoptosis, and cleft palate (U-shaped); however, cleft palate is absent in up to one-half of all cases. Polyhydramnios may also be observed…

Abstract Pentalogy of Cantrell is a rare syndrome consisting of a spectrum of five structural ventral midline defects, with the combination of an omphalocele and ectopia cordis being the hallmark…