PURPOSE: @entity14234 is a multiple @entity600 , with characteristic facial features, @entity1032 , and skeletal and @entity4297 . However, the @entity299 are not well described in the Korean population. We analyzed the @entity299 and clinical features of @entity14234 in a single tertiary center. METHODS: A retrospective analysis was conducted for a total of 13 @entity1 with @entity14234 . RESULTS: The median age at diagnosis of was 5.9 years (range, 9 days to 11 years and 8 months). All @entity1 showed the characteristic facial @entity4238 and @entity154 in multiple organs, and the diagnosis was delayed by 5.9 years (range, 9 days to 11 years and 5 months) after the first visit. @entity154 were found in 84% of @entity1 , and @entity299 were found in 9 @entity1 (69%). All 9 @entity1 exhibited @entity712 , including @entity1699 in 3, @entity1498 in 4, @entity472 in 1, and @entity4794 in 1. None had right-side @entity299 or isolated @entity1757 . Genetic testing in 10 @entity1 revealed 9 novel @entity14236 mutations. All 11 @entity1 who were available for follow-up exhibited developmental delays during the median 4 years (range, 9 days to 11 years 11 months) of follow-up. The leading cause of @entity204 was @entity1699 . CONCLUSION: Pediatric cardiologist should recognize @entity14234 and the high prevalence of @entity4297 with @entity14234 . Genetic testing can be helpful for early diagnosis and counseling.

The strong association of @entity712 with XXXX .

@entity1 :: ('9606', 'Species') :: ['patients'] @entity154 :: ('MESH:D000013', 'Disease') :: ['congenital anomalies', 'Noncardiac anomalies'] @entity1032 :: ('MESH:D008607', 'Disease') :: ['mental retardation'] @entity4238 :: ('MESH:D057215', 'Disease') :: ['dysmorphisms'] @entity712 :: ('MESH:D006333', 'Disease') :: ['left-side heart anomalies'] @entity14234 :: ('MESH:C537705', 'Disease') :: ['Kabuki syndrome'] @entity1699 :: ('MESH:D018636', 'Disease') :: ['hypoplastic left heart syndrome'] @entity1757 :: ('MESH:D006345', 'Disease') :: ['septal defects'] @entity600 :: ('MESH:D000014', 'Disease') :: ['congenital malformation syndrome'] @entity1498 :: ('MESH:D001017', 'Disease') :: ['coarctation of the aorta'] @entity14236 :: ('8085', 'Gene') :: ['MLL2'] @entity299 :: ('MESH:D006331', 'Disease') :: ['congenital heart diseases', 'cardiac anomalies', 'heart disease'] @entity4794 :: ('MESH:D008946', 'Disease') :: ['mitral valve stenosis'] @entity472 :: ('MESH:D001024', 'Disease') :: ['aortic valve stenosis'] @entity204 :: ('MESH:D003643', 'Disease') :: ['death'] @entity4297 :: ('MESH:D006330', 'Disease') :: ['congenital heart anomalies', 'left heart anomalies']
@entity14234 :: (MESH:C537705,Disease) :: ['Kabuki syndrome']
