| A Case of Synophthalmia with Chromosomal Anomaly: 46,XX,-15,t(15q,21q) |
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Byung Moon Ahn, Woo Seog Kim, Moo Yung Song, Un Jun Hyoung, Jin Oh Lee |
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Department of Pediatrics, Sung Ae Hospital, Seoul, Korea |
| 염색체 이상을 동반한 합안증 1례 |
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안병문, 김우석, 송무영, 형운준, 이진오 |
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성애병원 소아과 |
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| Abstract |
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A synophthalmia, another form of cyclopia, in which the element of the two eyes are partially fused to form an apparently single eye in the middle of the forehead. The synophthalmia is a result of complex, neural plate misdevelopment syndrome involving the eye, brain, skull and face. It is well known that synophthalmia is due to heterogenous causes, most of which chromosomal imbalances.
We experienced a case of synophthalmia associated with proboscis, alobar holoprosencephaly and chromosomal anomaly 46,XX,-15,t(15q,21q) . Diagnosis was confirmed by brain MRI and autopsy. The patient died about 20 hours of age and autopsy was done.
A brief review of the literatures was also presented. |
| Key Words:
Synophathalmia, Alobar Holoprosensephaly |
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