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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