Cornelia De Lange Syndrome-A Case Report

狄蘭吉氏症候群－病例報告

許家銘(Chia-Ming Hsu) ； 莊秋同(Chiu-Tung Chuang) ； 邱寶琴(Pao-Ching Chiu) ； 吳宗典(Tsung-Tien Wu) ； 許淑娟(Shwu-Jiuan Sheu)

《中華民國眼科醫學會雜誌》 49卷2期 (2010/06) Pp. 219-222

https://doi.org/10.30048/ACTASOS.201006.0015

摘要

目的：報告一例狄蘭吉氏症候群的病例。
方法：病例報告。
結果：這是一位五個月大早產兒男嬰，因生長發育不良，餵食困難而住院。理學檢查發現小手小腳、短頸、多毛。臉部則有極為特殊的特徵包含併眉、長而彎曲的睫毛、濃眉、薄唇、小下巴、低耳位及低髮線。眼科學檢查未發現有眼瞼下垂、眼顫或斜視等異常。其他系統性疾病則有聽性腦幹反射異常。
結論：狄蘭吉氏症候群是一種罕見的先天性異常疾病，經常台併發展遲緩及智力障礙。其特殊的臉部及眼部特徵是重要的診斷依據。

並列摘要

Purpose: To report a rare case of Cornelia de Lange syndrome.
Method: A case report with literature review.
Results: A 5-month-old boy was admitted to the pediatric ward due to failure to thrive. Clinical manifestations included intrauterine growth retardation (birth body weight was 1900 grams), prematurity (gestational age was 35+3 weeks), small for gestational age (4141 grams, less than third percentile), choked easily, small hands and feet, short neck, hirsutism and cryptorchidism. Facial features with confluent eyebrow, thin lips, low anterior and posterior hairline, down-turned mouth angle, low-set ears and micrognathia were noted. Auditory brainstem response showed slight hearing impairment. Ophthalmologic examination revealed long curly eyelashes, bushy eyebrows and synophrys. No ptosis, strabismus, nystagmus or other ocular abnormalities were found. The diagnosis was based on typical and unique clinical features of Cornelia de Lange syndrome (CdLS).
Conclusion: Cornelia de Lange syndrome is a syndrome of multiple congenital anomalies characterized by a distinctive facial appearance, prenatal and postnatal growth deficiency, feeding difficulties and malformations that mainly involve the upper extremities. We present such a rare case with typical manifestations.

並列關鍵字

Cornelia de Lange syndrome ； synophrys