PDF(Pubmed)
Abstract：
The nasopalpebral lipoma-coloboma syndrome was described for the first time in 1982. It is an autosomal dominant syndrome with complete penetrance and is characterized by features like congenital symmetric upper eyelid and nasopalpebral lipomas, bilateral symmetric upper and lower eyelid colobomas, broad forehead, widow\'s peak, abnormal eyebrow pattern, telecanthus, broad nasal bridge, maxillary hypoplasia, and ophthalmological abnormalities. We report a case of a milder variant of the nasopalpebral lipoma-coloboma syndrome that we have termed \"nasopalpebral lipoma sine coloboma syndrome.\" Such a milder variant is not reported hitherto in the literature. We also describe the surgical correction of the deformity in a case that presented in adulthood, with a satisfactory and pleasing aesthetic outcome.
摘要：
1982年首次描述了鼻脂肪瘤-结肠瘤综合征。它是一种具有完全外显率的常染色体显性综合征，其特征是先天性上眼睑对称性和鼻眼睑脂肪瘤，双侧对称的上下眼睑瘤，宽阔的前额，寡妇的高峰，异常的眉毛图案，telechanthus,宽阔的鼻梁，上颌发育不全,和眼科异常。我们报告了一例较温和的鼻皮脂瘤-结肠瘤综合征，我们将其称为“鼻皮脂瘤-结肠瘤综合征”。\"这种较温和的变体迄今在文献中没有报道。我们还描述了成年时畸形的手术矫正，具有令人满意和令人愉悦的美学结果。
