Pediatric pathology: Difference between revisions
Jump to navigation
Jump to search
→Syndromes: +angelman |
|||
| Line 6: | Line 6: | ||
===Cardiac=== | ===Cardiac=== | ||
*May be associated [[cardiomyopathy]]: DCM, RCM. | *May be associated with [[cardiomyopathy]]: DCM, RCM. | ||
==Angelmann syndrome== | |||
*[[AKA]] happy puppet syndrome. | |||
===General=== | |||
*Loss of a gene on 15p. | |||
**May be due to genetic imprinting disorder, i.e. only maternal gene imprinting pattern is present (due to loss of the paternal chromosome). | |||
*Mental retardation. | |||
=Gastrointestinal pathology= | =Gastrointestinal pathology= | ||