Ocular findings in a case of trisomy 18 with variant of Dandy-Walker syndrome.
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.
Lim
Fong-Fong
FF
Division of Genetics, Department of Pediatrics, Chung Shan Medical University Hospital, School of Medicine, Chung Shan Medical University, Taichung, Taiwan.
Ng
Yan-Yan
YY
Hu
Jui-Ming
JM
Chen
Suh-Jen
SJ
Su
Pen-Hua
PH
Chen
Jia-Yuh
JY
D000328:Adult; D002887:Chromosomes, Human, Pair 18; D003616:Dandy-Walker Syndrome / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D014314:Trisomy