Abstract：
:Trisomy 18 is the second most common chromosomal syndrome and has multiple dysmorphic features. However, ocular findings in trisomy 18 are rarely reported. Retinal folds are the most common ocular finding described to date, although retinal hypopigmentation, dysplasia, and areas of hemorrhage and gliosis are also found in trisomy 18. Dandy-Walker syndrome is a brain malformation that has been reported in association with numerous chromosomal abnormalities, although it has rarely been reported in association with trisomy 18. Here, we present a case of trisomy 18 with ocular pathology and variant of Dandy-Walker syndrome, a combination that has not previously been reported.
journal_name
Pediatr Neonatoljournal_title
Pediatrics and neonatologyauthors
Lim FF,Ng YY,Hu JM,Chen SJ,Su PH,Chen JYdoi
10.1016/S1875-9572(10)60056-3subject
Has Abstractpub_date
2010-10-01 00:00:00pages
292-5issue
5eissn
1875-9572issn
2212-1692pii
S1875-9572(10)60056-3journal_volume
51pub_type
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