[双侧缺损性小眼畸形伴22号染色体不完全四体综合征中的眼眶巨大囊肿]
[Bilateral colobomatous microphthalmus with orbital giant cysts in incomplete tetrasomy 22].
作者信息
Lange W, Rochels R, Otte J, Schwinger E, Bartsch O
机构信息
Augenklinik, Christian-Albrechts-Universität zu Kiel.
出版信息
Klin Monbl Augenheilkd. 1992 Jun;200(6):671-3. doi: 10.1055/s-2008-1045855.
PMID:1507792
Abstract
A case of bilateral microphthalmos with orbital cysts is presented with clinical, echographic, CT and genetical findings. An incomplete trisomy 22 is shown as the likewise cause of the malformation. No further symptoms known to be part of the cat-eye-syndrome could be detected.
摘要
本文报告了一例伴有眼眶囊肿的双侧小眼球病例，并展示了其临床、超声、CT及遗传学检查结果。结果显示，22号染色体三体不完整是导致该畸形的原因。未检测到已知的猫眼综合征的其他症状。
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