encephalocraniocutaneous lipomatosis
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英文释义
名词 n.
- A rare congenital neurocutaneous syndrome affecting the brain, skin, and eyes, marked by abnormal fatty tissue growths and developmental defects. It typically presents on one side of the body with lipomas on the scalp and face, intracranial lipomas and brain malformations, and eye abnormalities such as epibulbar choristomas.
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数据来源: Wiktionary