What ultrasound finding is commonly associated with Beckwith Wiedemann syndrome?

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Omphalocele is a congenital abdominal wall defect characterized by the protrusion of the abdominal organs through the umbilical cord. This finding is particularly associated with Beckwith-Wiedemann syndrome, a genetic disorder that presents with a variety of clinical features, including organomegaly, macroglossia, and an increased risk for embryonal tumors. During prenatal ultrasounds, the detection of an omphalocele can be significant, as it serves as a marker for Beckwith-Wiedemann syndrome among other conditions.

The other findings listed, such as radial ray anomalies, occipital encephalocele, and the molar tooth sign, are not typically associated with Beckwith-Wiedemann syndrome. Radial ray anomalies are more frequently linked to conditions like Holt-Oram syndrome. Occipital encephalocele is primarily seen in syndromes associated with neural tube defects, such as Meckel syndrome or trisomies. The molar tooth sign is a feature seen in conditions like Joubert syndrome, a disorder affecting the cerebellum and brainstem. Therefore, the presence of an omphalocele is a critical ultrasound finding relevant to assessing and diagnosing Beckwith-Wiedemann syndrome.

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