| A Case of Patau Syndrome with Congenital Ocular Anomaly. |
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Tae Yoon La, Sung Mi Kim, Ja Young Lee |
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Department of Ophthalmology, St. Vincents Hospital, The Catholic University of Korea, Suwon. |
| 선천성 안기형을 보인 Patau증후군 1예 |
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나태윤(Tae Yoon La),김성미(Sung Mi Kim),이자영(Ja Young Lee) |
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| Abstract |
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Patau syndrome, a trisomy of number 13 chromosome, is a rare congenital chromosomal anomaly accompaing many abnormalities of cardiovascular and central nervous system, kidney and extremity, face and eye. We experienced a case of Patau syndrome in newborn infant who had bilateral microphthalmia, microcornea, corneal opacity, iris coloboma, cataract, dislocated lens, spherophakia, retianl fold and dysplasia, which are typical ocular anomalies of this syndrome previously described overseas but not reported in domestic. So, we report this case with a review of the literatures. |
| Key Words:
Ocular anomalies;Patau syndrome;13 Trisomy |
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