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Virtual Pediatric Hospital: Paediapaedia: Pierre-Robin Syndrome Paediapaedia: Neurological Diseases

Pierre-Robin Syndrome

Michael P. D'Alessandro, M.D.
Peer Review Status: Internally Peer Reviewed

Clinical Presentation:
Has severe, symmetric mandibular hypoplasia (micrognathia) that is present at birth that is coupled with a widely cleft palate that allows for backward displacement of the tongue into the pharynx obstructing the epiglottis and blocking air flow.

Etiology/Pathophysiology:
Have associated congenital heart disease, external ear deformities, microphthalmus, bird like faces. Also can be associated with multiple rib abnormalities - cerebro-costomandibular syndrome.

Pathology:
Not applicable

Imaging Findings:
Micrognathia

DDX:

References:
See References Chapter.

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