Clinical and genetic characterization of patients with Pierre Robin sequence and spinal disease: review of the literature and novel terminal 10q deletion
Yekula A, Grant C, Gupta M, Santiago-Dieppa DR, Duddleston PJ, Gonda D, Levy M. Clinical and genetic characterization of patients with Pierre Robin sequence and spinal disease: review of the literature and novel terminal 10q deletion. Child's Nervous System 2020, 36: 1367-1377. PMID: 32399800, PMCID: PMC7300078, DOI: 10.1007/s00381-020-04642-2.Peer-Reviewed Original ResearchConceptsPierre Robin sequenceSpinal diseaseTethered cordEarly genetic testingMagnetic resonance imagingOutpatient checkupsPRS patientsAirway obstructionNeurological assessmentPatient populationRobin sequenceClinical managementDisease burdenSpinal cordMotor functionSacral dimpleSpinal disordersSpinal pathologyPatientsSystematic reviewTerminal deletionResonance imagingClinical screeningChromosome 10qGenetic syndromes