title: Another case of multiple juxtasutural hyperostoses, cervical exostoses, and fatty infiltration of myocardium.
abstract: We report on an individual affected by multiple juxtasutural cranial hyperostoses who later developed cervical spine hyperostoses with associated fusion anomalies. The propositus was not affected by a disorder of generalized overgrowth. An echocardiogram revealed areas of abnormal signal within the myocardium which were consistent with fatty infiltration on magnetic resonance imaging of the heart. We compare our case with a few previously reported cases that share phenotypic similarities but differ in some other clinical aspects. It is possible that these patients represent a phenotypic continuum resulting from a somatic mutation in an unknown gene.
authors.affiliation: Division of Medical Genetics, Queen's University, Kingston, Canada.
authors.forename: Peter
authors.initials: P
authors.lastname: Kannu
authors.forename: David
authors.initials: D
authors.lastname: Perry
authors.forename: Martin
authors.initials: M
authors.lastname: Rees
authors.forename: Clare
authors.initials: C
authors.lastname: O'Donnell
authors.forename: Salim
authors.initials: S
authors.lastname: Aftimos
mesh_terms: D002574:Cervical Vertebrae / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003393:Cranial Sutures / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005096:Exostoses / Q000150:complications* / Q000000981:diagnostic imaging; D005223:Fats / Q000378:metabolism*; D005260:Female; D006346:Heart Septum / Q000000981:diagnostic imaging; D006801:Humans; D015576:Hyperostosis / Q000150:complications* / Q000000981:diagnostic imaging; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D009206:Myocardium / Q000473:pathology*; D011247:Pregnancy; D014057:Tomography, X-Ray Computed; D014463:Ultrasonography; D055815:Young Adult
chemical_list: D005223:Fats