title: Infantile myofibromatosis: report on a family with autosomal dominant inheritance and variable penetrance.
abstract: Infantile myofibromatosis (IM) is a benign tumor occurring in infants and young children. Familial IM is rare and the inheritance pattern of IM is unclear. We report on a unique family with four individuals having IM of varying degrees of severity with autosomal dominant inheritance pattern and variable penetrance.
authors.affiliation: Department of Pediatric Oncology, Stollery Children Hospital, University of Alberta, Edmonton, AB, Canada.
authors.forename: Ketan
authors.initials: K
authors.lastname: Kulkarni
authors.forename: Sunil
authors.initials: S
authors.lastname: Desai
authors.forename: Paul
authors.initials: P
authors.lastname: Grundy
authors.forename: Consolato
authors.initials: C
authors.lastname: Sergi
mesh_terms: D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use*; D025063:Chromosome Disorders / Q000235:genetics* / Q000473:pathology; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D018224:Myofibromatosis / Q000151:congenital / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D019683:Penetrance; D018570:Risk Assessment; D012878:Skin Neoplasms / Q000151:congenital / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D016896:Treatment Outcome