Pierre Robin Sequence Clinical Presentation
- Author: Marie M Tolarova, MD, PhD, DSc; Chief Editor: Ravindhra G Elluru, MD, PhD more...
History and Physical Examination
Pierre Robin sequence (PRS) consists of the following three essential components (see the images below):
Micrognathia or retrognathia
Cleft palate (usually U-shaped but sometimes V-shaped)
Glossoptosis, often accompanied by airway obstruction - The tongue is not actually larger than normal, but because of the small mandible, the tongue is large for the airway and therefore causes obstruction; rarely, the tongue is smaller than normal
PRS is a series of anomalies all initiated by one developmental problem. Other definitions have been suggested, based on a combination of mandibular deficiency, presence of U-shaped or V-shaped cleft palate, and airway obstruction.
Airway obstruction with PRS, if very severe or not properly managed, may lead to hypoxia, cor pulmonale, failure to thrive, and cerebral impairment. Syndromic cases and Robin complexes are usually more severe than nonsyndromic PRS and have worse prognoses. Mortality has been reported to be as high as 30%. Neonates with PRS should be carefully monitored because a significant airway obstruction may develop during the first 1-4 weeks of life.
PRS occurs as an isolated defect, as part of a recognized syndrome, or as part of a complex of multiple congenital anomalies. Diagnosis of a possible syndrome is very often critically important for correct management of a newborn affected with PRS.[3, 4] Among syndromic varieties of PRS, the most common is Stickler syndrome, which accounts for 20-25% of all cases (see the images below).
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