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KMID : 0367419940370060854
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Journal of Korean Pediatric Society
1994 Volume.37 No. 6 p.854 ~ p.860
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A Case of Synophthalmia with Chromosomal Anomaly: 46, XX, -15, t (15q, 21q)
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안병문
김우석/송무영/형운준/이진오
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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 (15 q, 21 q). 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.
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KEYWORD
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