Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: Morphometric analysis in a 2‐year‐old girl
Rossi‐Espagnet M, Dentici M, Pasquini L, Carducci C, Lucignani M, Longo D, Agolini E, Novelli A, Gonfiantini M, Digilio M, Napolitano A, Bartuli A. Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: Morphometric analysis in a 2‐year‐old girl. American Journal Of Medical Genetics Part A 2020, 182: 2372-2376. PMID: 32744776, DOI: 10.1002/ajmg.a.61771.Peer-Reviewed Original ResearchConceptsMicrocephalic osteodysplastic primordial dwarfismMOPD type IIMagnetic resonance imagingHeterozygous loss-of-function variantsMalformations of cortical developmentMicrocephalic osteodysplastic primordial dwarfism typeCompound heterozygous loss-of-function variantsBrain magnetic resonance imagingOsteodysplastic primordial dwarfism typeProportionate short statureOsteodysplastic primordial dwarfismLoss-of-function variantsYear old girlCortical thicknessPericentrin geneIncrease of CTComparing MRI dataType IIShort statureMoyamoya diseaseCerebrovascular abnormalitiesHealthy controlsMorphometric analysisOld girlCortical development
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