What ultrasound finding is linked to the Pierre Robin sequence?

The correct answer is that the ultrasound finding linked to the Pierre Robin sequence is associated with Stickler syndrome. Pierre Robin sequence is characterized by a triad of symptoms: micrognathia (small jaw), glossoptosis (downward placement of the tongue), and cleft palate, which can lead to airway obstruction.

Stickler syndrome, a connective tissue disorder, is often associated with Pierre Robin sequence and can be detected through various ultrasound findings. For example, transabdominal ultrasound can reveal certain skeletal anomalies and features consistent with connective tissue disorders in a fetus affected by Stickler syndrome, including cleft palate, which is a common feature in Pierre Robin sequence.

By contrast, the other options listed are linked to other genetic syndromes. TAR syndrome primarily involves thrombocytopenia and upper limb malformations, often not detected by standard ultrasound as correlatively with Pierre Robin. Meckel-Gruber syndrome is a severe condition characterized by the triad of renal cysts, encephalocele, and polydactyly, which does not specifically encompass the features of the Pierre Robin sequence. Holt-Oram syndrome is distinguished by heart and upper limb defects, also not directly associated with the sequelae seen in Pierre Robin.

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