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色素失調症-病例報告

Incontinentia Pigment-A Case Report

摘要


報告一例色素失調症的女嬰,除了皮膚病變外,尚包括牙齒、眼睛及中樞神經等外胚層發育障礙。眼部之異常有小眼球症,視神經萎縮,視網膜剝離及殘遺增生性原始玻璃體等。

關鍵字

無資料

並列摘要


In this study, we observed a 16-month-old Chinese girl with characteristics of reticular hyperpigmentation over the trunk and extremities. Generalized floppiness, poor teeth development, mental retardation and delayed development were also noted. Ocular abnormalities included PHPV, cataract, retinal detachment, optic nerve atrophy and microphthalmia.

延伸閱讀


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