Noonan syndrome with entropion and epicanthic folds: a case report

VernacularTitle:努南综合征合并睑内翻及内眦赘皮1例
Author: Yi MU ¹ ; Yi MA ; Liang ZHAO ; Yuanyuan JING
Author Information

1. 天津市人民医院眼科，天津　300121
Publication Type:Journal Article
Keywords: Noonan syndrome; Entropion; Epicanthic folds; Ptosis; Nystagmus
From: Chinese Journal of Plastic Surgery 2025;41(6):631-634
CountryChina
Language:Chinese
Abstract: An 8-year-old female patient was admitted to the hospital because of foreign body sensation and lacrimation in both eyes for more than 5 years, and was diagnosed with " Noonan syndrome: (1) entropion and trichiasis; (2) congenital epicanthic folds; (3) ptosis; (4) corneal epithelial damage; (5) nystagmus; (6) ametropia in both eyes" based on her medical history and physical signs. After consultations with ophthalmology, pediatrics and anesthesiology departments, correction of entropion + blepharoplasty + medial canthoplasty in both eyes were performed under general anesthesia. Postoperatively, the patient’s lower eyelid entropion, trichiasis and epicanthic folds were completely corrected. No recurrence was observed during the six-month follow-up. Noonan syndrome with ocular abnormalities is rarely reported. This article summarized the diagnosis and treatment of this case to remind clinicians to pay attention to the facial and systemic manifestations of patients with eyelids abnormity, so as to reduce the misdiagnosis of Noonan syndrome and related medical safety risks.