Another Case of Multiple Juxtasutural Hyperostoses, Cervical Exostoses, and Fatty Infiltration of Myocardium

作者：Kannu Peter; Perry David; Rees Martin; O'Donnell Clare; Aftimos Salim^*

来源：American Journal of Medical Genetics, Part A, 2011, 155A(3): 589-594.

DOI：10.1002/ajmg.a.33499

• bony overgrowth
• abnormal skull
• cardiac tumor
• mosaic distribution

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.

• 出版日期2011-3-11