Novel XRCC4 Mutations in an Infant With Microcephalic Primordial Dwarfism, Dilated Cardiomyopathy, Subclinical Hypothyroidism, and Early Death: Expanding the Phenotype Of XRCC4 Mutations
Fredette ME, Lombardi KC, Duker AL, Buck CO, Phornphutkul C, Bober MB, Quintos JB. Novel XRCC4 Mutations in an Infant With Microcephalic Primordial Dwarfism, Dilated Cardiomyopathy, Subclinical Hypothyroidism, and Early Death: Expanding the Phenotype Of XRCC4 Mutations. AACE Clinical Case Reports 2019, 6: e1-e4. PMID: 32524007, PMCID: PMC7279775, DOI: 10.4158/accr-2019-0283.Peer-Reviewed Original ResearchSubclinical hypothyroidismMicrocephalic primordial dwarfismFemale infantComprehensive next-generation sequencing panelModerate left ventricular systolic dysfunctionLeft ventricular systolic dysfunctionElevated thyroid-stimulating hormoneGenetic testingVentricular systolic dysfunctionNext-generation sequencing panelThyroid-stimulating hormoneMonths of lifeNormal free thyroxinePostnatal growth failureDays of lifeGeneration sequencing panelPrimordial dwarfismAnticongestive therapyInitial echocardiogramSystolic dysfunctionCardiopulmonary arrestPhysical examinationFree thyroxineThyroid testingTriangular facies