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摘要


Harbenland徵候群,又稱爲腦、顱、皮膚脂肪瘤病,是一種相當罕見的先天性疾病,目前全世界報告的個案僅三十六例。此徵候群之特徵涉及多個器官系統且臨床表現程度各異。本個案報告在出生後二十五年方得正確診斷。本文報告一典型案例並回顧相關文獻。

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並列摘要


Haberland syndrome, also known as encephalocraniocutaneous lipomatosis (ECCL) is a very rare congenital disorder which has been reported in only 36 cases worldwide since its first description. The syndrome is characterized by several specific clinical findings in different organ systems which can be presented within a spectrum. In our case, the exact diagnosis of ECCL was delayed for 25 years since his birth. We reported this rare case and reviewed related literature.

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