The Pierre Robin sequence (also referred to as an anomalad) consists of a group of anatomic findings that can significantly impact the affected patient.
Triad of the Pierre Robin sequence (anomalad):
(1) micrognathia and retrognathia
(2) glossoptosis (downward displacement of tongue)
(3) U-shaped cleft palate
Complications may include:
(1) intermittent upper airway obstruction with hypoxemia and hypoventilation (as the tongue falls back)
(2) poor feeding, leading to malnutrition
(3) cor pulmonale
It may be part of a genetic syndrome (in which case the patient may have other malformations) or sporadic. Jakobsen et al correlated the occurrence with dysregulation of SOX9 and KCNJ2.
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