A family history of PRS is present in 10% to 15% of cases, possibly involving mutations upstream of the SOX9 gene, which participates in embryonic mandible development among other roles. The pathophysiological origin of the embryonic sequence of events leading to the disorder seems heterogeneous. It associates retro(or micro)gnathia, glossoptosis, airway obstruction and frequently posterior U-shaped cleft palate (CP). Pierre Robin sequence (PRS) is a rare and complex facial malformation that occurs in approximately 1 in 10,000 births. We must focus on long-term functional and psychological results for PRS patients and improve therapy protocols and follow-up, notably those affecting the oral aspects of the disease. These adolescents, especially those with non-isolated PRS, show self-confidence and social-relation fragility. Morphological or phonatory impairments remain non-rare in adolescents with PRS but do not seem to be directly responsible for altered QoL. Only non-isolated PRS and low oral QoL affected generic QoL. QoL results were lower for adolescents with non-isolated than isolated PRS. The generic QoL of the adolescents was satisfactory but slightly lower than that of controls, especially in dimensions concerning physical well-being, relationships and autonomy. The vocal QoL of the adolescents (mean VHI-9i = 7.5 ) was better than that of patients with other voice pathologies and better when phonation was good. The oral QoL of the adolescents with non-isolated PRS was significantly worse (COHIP-SF19 = 24.2) than that of control patients and close to that of children with other craniofacial malformations. The oral QoL of these adolescents was comparable to that of control patients and was significantly better than that of children with other craniofacial malformations (COHIP-SF19 = 17.5, 15.4 and 25.7, respectively). Only one vs two-stage surgery seemed to affect final aesthetic results. For 14%, morphological results were considered disharmonious, with no link to neonatal retrognathia severity. Two-thirds of our adolescents retained low or moderate phonation difficulties, but risk factors were not identified. We assessed the phonatory and morphological outcomes of 72 cognitively unimpaired adolescents with PRS, studied their oral (COHIP-SF19), vocal (VHI-9i) and generic quality of life (QoL KIDSCREEN-52), and searched for determinants of these outcomes. Nevertheless, the quality of life in adolescence and the phonatory and morphological outcomes are rarely analysed. Patients with PRS, either isolated or associated with Stickler syndrome have good intellectual prognosis. Pierre Robin sequence (PRS) is a heterogeneous condition involving retro(micro)gnathia, glossoptosis and upper airway obstruction, very often with posterior cleft palate.
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