Correction of the Webbed Neck Deformity in Noonan Syndrome-A Case Report and Review of Literature

奴南氏症蹼狀頸之矯治－病例報告及文獻回顧

謝孟祥(Mon-Hsian Hsieh) ； 賴幸光(Shing-Guang Lai) ； 湯月碧(Yueh-Bih Tang)

《中華民國整形外科醫學會雜誌》 14卷4期 (2005/12) Pp. 355-362

https://doi.org/10.7096/JPSA.200512.0355

摘要

奴南氏症是一種會造成許多發育畸形之遺傳性疾病，它和透納氏症之臨床表現相似，只是後者具45×0之染色體異常，病人皆為女性，前者則為正常染色體數之顯性遺傳，病人男女性皆有。因此，奴南氏症有時也被稱做“表現型透納氏症”。
在所有的畸形中，以蹼狀頸畸形最為顯著，其特徵包含皮下之纖維化筋膜帶狀鑾縮，以及後頸過低的髮線。因此手術治療之目的，就是要回復正常之頸部型態，矯正過低的髮線，同時儘量避免在頸部留下明顯之疤痕。
我們在此報告一例以手術治療奴南氏症蹼狀頸之經驗，敘述其治療之方法，並藉文獻之回顧，對不同之手術方法做一比較。

並列摘要

The Noonan syndrome is a genetic disorder resulting in developmental anomaly of multiple parts of the body. Many features of the syndrome are reminiscent of Turner syndrome, except the later is caused by 45×0 chromosome anomaly, whereas the former has normal chromosome number. Accordingly, the Noonan syndrome is also called ”Turner phenotype”.
Among the multiple anomalies of Noonan syndrome, the webbed neck deformity is the most prominent one. The deformity is characterized by a subcutaneous band of thickened fascia in the lateral aspects of neck and a low-neck hairline. The goal of surgical management is to correct the low-lying hairline and to restore the normal contour of the neck. The issue of abolishing the webbing band of the neck without residual obvious scarring is a challenge to the surgeons.
We report a female patient of Noonan syndrome and describe the technique of correction. We also discuss a number of major procedures described in the literatures.

並列關鍵字

noonan syndrome ； turner syndrome ； webbed neck ； pterygium colli