Clinical phenotypes among patients with familial forms of Chiari malformation type 1.
Mekbib K, Muñoz W, Allington G, Zhao S, Mehta N, Fortes C, Shohfi J, Fan B, Nelson-Williams C, DeSpenza T, Butler W, Alper S, Jackson E, Kahle K. Clinical phenotypes among patients with familial forms of Chiari malformation type 1. Journal Of Neurosurgery Pediatrics 2025, 36: 109-118. PMID: 40315599, DOI: 10.3171/2025.1.peds24187.Peer-Reviewed Original ResearchConceptsChiari malformation type 1Connective tissue disordersClinical phenotypeNeurological comorbiditiesType 1Family membersCerebellar tonsillar herniationPatient-parent triosEhlers-Danlos syndromeWhole-exome sequencingNeck painTonsillar herniationCraniocervical junctionNeural compressionCSF obstructionTissue disordersUnivariate analysisCohort studyFamily historyClinical symptomsNeurosurgical managementNeurodevelopmental conditionsVariable symptomsForamen magnumPatients
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