Clinical grounds alone are clearly not sufficient to predict whether an infant will subsequently present with upper airway obstruction, suggesting that there is a role for polysomnography as a diagnostic tool or continuous overnight pulse oximetry. Caouette-Laberge et al reported deaths by sudden deterioration in the degree of upper airway obstruction in the PRS. Bull et al noted that upper airway obstruction may appear over the first month of life, specific clinical details were not provided.- The late onset of upper airway obstruction, particularly after initial hospital discharge, has potentially serious consequences. However, this view was challenged by Ogborn and Pemberton, who reported that 5 of 16 (30%) of their cases presented with upper airway obstruction between 2 and 21 days of age. Airway obstruction in PRS has been classically described to develop soon after birth. Recent studies on genetics have shown that that the association of dysregulation of the genes SOX9 and KCNJ2 may be involved in PRS, evidenced by a familial translocation with a breakpoint located in the gene empty region between SOX9 and KCNJ2, and by reduced expression of SOX9 and KCNJ2 in non-translocated patients with PRS.
PRS is a clinically well-defined subgroup of the cleft lip-palate population with an unknown etiology, often observed as a part of other Mendelian syndromes, such as Stickler's syndrome, velocardiofacial syndrome, and Marshall's syndrome. The developmental anomaly was originally classified as a syndrome but was reclassified as a sequence in 1982. The phenomenon comprises the triad of mandibular micrognathia, U-shaped cleft palate, and glossoptosis. Pierre Robin sequence (PRS (MIM 261800)) named after the French stomatologist who, in 19, described the problems associated with newborn micrognathia with a prevalence of 1:8500 live births.
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