Upper Eyelid Coloboma Associated with Congenital Heart Disease-A Rare Case Report

目的：報告一例先天性上眼瞼缺損的病人臨床表徵和眼瞼修補手術方法。方法：病例報告。結果：我們提出一病例報告，先天性上眼瞼缺損，合併先天性心臟病引牙頭組織缺損，小耳症，大嘴裂。在三個月大時，開刀矯正，自同側下眼瞼旋轉一皮瓣到上眼瞼，進行重整手術。先天性眼瞼缺損(eyelid coloboma)是胚胎在發育時皮膚、肌肉、眼瞼板、結膜的缺損，此種缺損可能單獨嶺生或合併其他眼窩畸形。若患有眼球內組織缺損(ocular coloboma)，則非單患有眼球內組織缺損而已，其常合併先天性心臟組織缺損或其他組織缺損。結論：通常下眼瞼先天性組織缺損者，會合併全身性的組織缺損。但是我們提出一罕見的病例報告，先天性上眼瞼缺損合併全身性其他重要臟器之組織缺損。所以只要是有眼瞼或眼內先天性組織缺損，都須要接受全身性篩檢。

關鍵字

無資料

並列摘要

Purpose: To report a case of upper eyelid coloboma associated with congenital heart disease. Method: Case report. Result: We describe one rare case with upper eyelid coloboma associated with congenital heart disease, skeletal deformity and ear tag. The patient underwent rotational switch flap under general anesthesia at 3-month-old. The flap was divided two weeks later and eyelid reconstruction was done. Good result was noticed after 6- year follow-up. Conclusion: Coloboma is defined as a defect, especially a congenital fissure, of any part of the eye. Congenital eyelid coloboma is a defect of the skin, muscle, tarsal plate and conjunctiva of the lid margin. Colobomas of the eyelids are considered as forms of facial clefting. It occurs in isolation or occurs with orbital deformity or epibulbar tumor while ocular coloboma is often associated with heart malformation, genital hypoplasia, ear anomalies and hearing loss. Eyelid coloboma could involve both upper and lower eyelids. Lower eyelid coloboma often occurs with congenital heart disease, systemic abnormalities, while upper eyelid coloboma is free of other disorders. We report a case of upper eyelid coloboma with congenital heart disease, constricted ear, skin tag, hemifacial defect, and discuss the surgical strategy of colobomas.

並列關鍵字

Coloboma ； epibulbar tumor ； ventricular septal defect VSD

國際替代計量

Upper Eyelid Coloboma Associated with Congenital Heart Disease-A Rare Case Report

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