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 ResearchMeSH KeywordsAdolescentAirway ObstructionChromosome DeletionChromosomes, Human, Pair 10FemaleHumansInfantInfant, NewbornPierre Robin SyndromeSpinal DiseasesConceptsPierre 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