Unilateral Left Ankyloblepharon Filiforme Adnatum Associated With Trisomy 18 in a Term Female Neonate: A Case Report

Source: PubMed Central Open Access, NCBI / U.S. National Library of Medicine

Ankyloblepharon filiforme adnatum (AFA) is a rare, congenital eyelid anomaly characterized by partial fusion of the upper and lower eyelid margins by fine extensile tissue bands. We report a term female neonate with unilateral left AFA, intrauterine growth restriction, dysmorphic features, and congenital heart disease. Clinical evaluation raised suspicion of trisomy 18, which was confirmed by blood karyotyping. Echocardiography revealed a complex congenital heart defect suggestive of tetralogy of Fallot. The eyelid band was excised with scissors without sedation or local anesthesia, resulting in immediate restoration of palpebral opening and clearance of the visual axis without bleeding. This case highlights the importance of early treatment of AFA and systematic evaluation for associated malformations and chromosomal abnormalities.