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The Pierre Robin sequence is primarily associated with Stickler syndrome, which is characterized by a triad of features: micrognathia (a small jaw), glossoptosis (posterior displacement of the tongue), and airway obstruction. This sequence can be part of the broader range of anomalies seen in Stickler syndrome, which is caused by mutations in the collagen genes, particularly COL2A1. Patients with this syndrome may present with other findings such as cleft palate, ocular abnormalities, and hearing loss.

Understanding the connection between Pierre Robin sequence and Stickler syndrome involves recognizing that while Pierre Robin sequence can occur as an isolated anomaly, it is often seen in conjunction with genetic syndromes. Stickler syndrome is significant because it not only encompasses the classic features of the Pierre Robin sequence but also introduces a spectrum of additional issues that align with its connective tissue defect characteristics.

In contrast, Smith-Lemli-Opitz syndrome, Down syndrome, and VACTERL Association do not exhibit the specific characteristics associated with Pierre Robin sequence in the same consistent manner as Stickler syndrome. For example, Smith-Lemli-Opitz is primarily associated with developmental delays and other malformations but lacks the specific oral and airway abnormalities typical for Pierre Robin. Similarly, while Down