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奥斯卡·科比利ński(1856 - 1926)与医学文献中对努南综合征的首次描述。

Oskar Kobyliński (1856-1926) and the first description of Noonan syndrome in the medical literature.

作者信息

Marcinowski Filip

机构信息

Warsaw Medical University, Poland.

出版信息

J Med Biogr. 2020 Nov;28(4):202-207. doi: 10.1177/0967772018783379. Epub 2018 Jul 12.

DOI:10.1177/0967772018783379
PMID:29998749
Abstract

While a student of University in Dorpat (now Tartu, Estonia) Oskar Kobyliński published an article reporting on his 22-year-old patient Leisar Eischikmann, who suffered from a congenital deformity of the neck. Kobyliński described this rare anomaly and called it "flüghautige Verbreitung des Halses" (wing-like extension of the neck). It was only in 1902 when the name pterygium colli was introduced, and it has been in use ever since. This malformation is part of some congenital syndromes, most prominently, Turner syndrome and, more rarely, of Noonan syndrome. As Opitz et al. pointed out, the patient described in the 1883 article from is probably the first person with Noonan syndrome to have been pictured in the medical literature. The article was signed only by "O. v. Kobylinski, student of medicine." Further archival research was needed to identify this physician and provide more details about his unusual career.

摘要

在多尔帕特大学(现爱沙尼亚塔尔图)求学期间,奥斯卡·科比林斯基发表了一篇文章,报道了他一位22岁的患者莱萨尔·艾施克曼,该患者患有先天性颈部畸形。科比林斯基描述了这种罕见的异常情况,并将其称为“flüghautige Verbreitung des Halses”(颈部翼状延伸)。直到1902年,“颈蹼”这个名称才被引入,此后一直沿用。这种畸形是一些先天性综合征的一部分,最显著的是特纳综合征,较少见的是努南综合征。正如奥皮茨等人所指出的,1883年那篇文章中描述的患者可能是医学文献中第一个有照片的努南综合征患者。这篇文章仅署名“医学系学生O. v. 科比林斯基”。需要进一步的档案研究来确定这位医生的身份,并提供更多关于他不同寻常职业生涯的细节。

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J Med Biogr. 2020 Nov;28(4):202-207. doi: 10.1177/0967772018783379. Epub 2018 Jul 12.
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