Pierre Robin Sequence (PRS) can be associated with skeletal dysplasias, presenting with craniocervical instability and devastating spinal injury if unrecognized. The authors present the case of an infant with PRS and a type II collagenopathy who underwent multiple airway-securing procedures requiring spinal manipulation before craniocervical instability was identified. This resulted in severe cervical cord compression due to odontoid fracture and occipitoatlantoaxial instability. This case highlights the importance of early cervical spine imaging and cautious manipulation in infants with PRS and suspected skeletal dysplasia.
BarrRMKhanSAShahMNRoySTeichgraeberJFGreivesMR. Cervical instability in Pierre Robin Sequence: an addition to the algorithm. J Craniofac Surg. 2016;27:1674–1676.
2.
CogswellJJEastonDM. Cor pulmonale in the Pierre Robin syndrome. Arch Dis Child. 1974;49:905–908.
3.
CohenMMJr. Robin sequences and complexes: causal heterogeneity and pathogenetic/phenotypic variability. Am J Med Genet. 1999;84:311–315.
4.
EvansKNCunninghamML. Overview of cervical vertebral abnormalities in craniofacial conditionsPresented at: the 73rd Annual Meeting of the American Cleft Palate-Craniofacial Association; April 4-9, 2016; Atlanta, GA.
5.
GambleJGRinskyLA. Combined occipitoatlantoaxial hypermobility with anterior and posterior arch defects of the atlas in Pierre-Robin syndrome. J Pediatr Orthop. 1985;5:475–478.
JakobsenLPKnudsenMALespinasseJGarcia AyusoCRamosCFrynsJPBuggeMTommerupN. The genetic basis of the Pierre Robin Sequence. Cleft Palate Craniofac J. 2006;43:155–159.
8.
KannuPBatemanJSavarirayanR. Clinical phenotypes associated with type II collagen mutations. J Paediatr Child Health. 2012;48:E38–E43.
9.
KrakowDRimoinDL. The skeletal dysplasias. Genet Med. 2010;12:327–341.
10.
LachmanRS. The cervical spine in the skeletal dysplasias and associated disorders. Pediatr Radiol. 1997;27:402–408.
11.
MolnarSSzappanosLKormendiZVeresR. Occipitoatlantoaxial instability and congenital thoracic vertebral deformity in Pierre Robin Sequence: a case report. Spine (Phila Pa 1976). 2007;32:E501–504.
12.
TanTYKilpatrickNFarliePG. Developmental and genetic perspectives on Pierre Robin Sequence. Am J Med Genet C Semin Med Genet. 2013;163C:295–305.
13.
ZochowskiCGGosainAK. Pierre Robin Sequence. In: RodriguezEDNeliganPCLoseeJE, eds. Plastic Surgery: Craniofacial, Head and Neck Surgery and Pediatric Plastic Surgery. 3rd ed. Philadelphia, PA: Saunders; 2012:803–827.
