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Infantile myofibromatosis. Evidence for an autosomal-dominant disorder.
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1984
Year
Down SyndromeDevelopmental AnomalyInfantile MyofibromatosisMulticentric FormGenetic DisorderInherited Metabolic DiseaseHematologyPediatricsCongenital DisordersPathologyFetal ComplicationMedicineLong PeriodClinical GeneticsHealth Sciences
Infantile myofibromatosis is a distinct clinicalpathologic entity occurring primarily in neonates and infants either as a single nodular lesion or as a multicentric form. We have recently studied two cases of this disorder in neonates, and a third involving the father of one of these infants, all documented by biopsy. Evidence in support of an autosomal-dominant mode of inheritance for infantile myofibromatosis and of its potential to recur after a long period of quiescence is presented.