Cheruvu Ved Prakash Rao, Khan Manal M, Arora Madhuri, Chaudary Vikas
Department of Burns and Plastic Surgery, All India Institute of Medical Sciences Bhopal, Bhopal, Madhya Pradesh, India.
Indian J Plast Surg. 2023 May 19;56(3):276-279. doi: 10.1055/s-0043-1768796. eCollection 2023 Jun.
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 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.
鼻睑脂肪瘤-缺损综合征于1982年首次被描述。它是一种常染色体显性综合征，具有完全外显率，其特征包括先天性对称性上睑和鼻睑脂肪瘤、双侧对称性上下睑缺损、宽额头、美人尖、异常眉形、内眦距增宽、宽鼻梁、上颌骨发育不全以及眼科异常。我们报告了一例鼻睑脂肪瘤-缺损综合征的较轻变异型病例，我们将其称为“鼻睑脂肪瘤缺损综合征”。迄今为止，文献中尚未报道过这种较轻的变异型。我们还描述了一例成年患者畸形的手术矫正情况，获得了令人满意且美观的效果。
