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

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 Archiv für Anthropologie 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.