Pierre Robin syndrome

Case report

of neonate Pierre Robin sequence with severe upper airway obstruction who was rescued by finger guide intubation. a shows the Craniofacial CT reconstruction of our patient. b shows the Craniofacial CT reconstruction of a normal 2-months-old PRS patient

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Case report

of neonate Pierre Robin sequence with severe upper airway obstruction who was rescued by finger guide intubation. a shows the airway CT of our patient. we found he had large lesion with size of 21.1 mm X 11.7 mm occupying his base of tongue extending from left all the way to middle. b shows the same lesion with color dyed

bmcanesthesiol.biomedcentral.com • CC-by-4.0

Newborn with

a very small jaw. 3D CT without contrast of the face shows micrognathia.The diagnosis was Pierre Robin syndrome.

pediatricimaging.org • CC-by-nc-sa 4.0

Radiopaedia • CC-by-nc-sa 3.0 • de

Robin sequence, also called Pierre Robin syndrome or Pierre Robin anamaloid, is a congenital condition characterized by facial abnormalities. Its etiology has no genetic base, but rather, is reliant on a sequence of events, one following the other.

Terminology

Robin sequence is the preferred term rather than Pierre Robin syndrome, as most cases are not syndromic .

Epidemiology

Robin sequence occurs in 1 in 8500 neonates .

Clinical presentation

May present with upper airway obstruction, sleep disturbance or apnea.

Pathology

The primary defect is a retrognathic mandible which occurs at 7-11 weeks of gestation due to abnormal development of the first pharyngeal arch (see branchial apparatus). This prevents the tongue from descending which in turn prevents fusion of palatal shelves resulting in glossoptosis (retraction of tongue), high or U-shaped palate and airway obstruction. It is characterized by