Turner syndrome

Description

History

1883 – Oskar Kobyliński (1856-1926) was a medical student at Dorpat when he described the case of a 20-year-old Leisar Eischikmann admitted for investigation of a fever of unknown origin. Kobyliński published the case in Archiv für Anthropologie and defined in great detail an anatomical abnormality of webbing of the neck. He also drew attention to the patient’s low hairline; that at the level of the nasal bridge the hairline connected with the eyebrows; and bilateral deformation of the external ear of the patient.

**Funke, Ullrich and Turner quote the case of Kobyliński, however the case is more likely Noonan syndrome. This led to endless confusion in the literature until the cytogenetic clarification of both entities.

1902 – Ernst Funke, a surgeon from Lower Saxony described the case of a 15 year old girl with shortness of stature, congenital lymphedema of hands and feet. She had redundant skin at back of the neck, evident at birth as thick folds and later as conspicuous lateral webs (for which he coined the term pterygium colli). The patient was 135 cm tall and in concert with her webbed neck she had large lowset posteriorly angulated auricles, hypoplasia of the nipples, absent development of secondary sexual characteristics, and nasal speech with a high and narrowly arched palate. Funke’s article is illustrated with four photos showing classical Ullrich-Turner syndrome facial appearance together with micrognathia and bilateral ptosis.

1930 – Otto Ullrich (1894 – 1957) cites the patient of Funke as the first illustrated case report of the Ullrich-Turner syndrome. Ullrich was impressed by the similarity between his and Funke’s patients.

1938 – Turner

Associated Persons

• Oskar Kobyliński (1856 – 1926)
• Kristine Elisabeth Heuch Bonnevie (1872 – 1948)
• Otto Ullrich (1894 – 1957)
• Henry Hubert Turner (1892 – 1970)

Alternative names

• Ullrich-Turner syndrome
• Bonnevie-Ullrich Syndrome
• Bonnevie-Ullrich-Turner Syndrome
• Gonadal dysgenesis;
• Monosomy X

References

• Kobylinski O. Ueber eine flughautahnliche Ausbreitung am Halse, Archiv für Anthropologie. 1883; 14: 343-348
• Funke E. Pterygium colli. Deutsche Zeitschrift für chirurgie, 1902; 63: 162-167
• Ullrich O. Über typische Kombinationsbilder multipler Abartungen. Zeitschrift für Kinderheilkunde 1930; 49(3): 271-276
• Bonnevie K. Embryological analysis of gene manifestation in Little and Bagg’s abnormal mouse tribe. Journal of Experimental Zoology, 1934; 67: 443–520
• Turner HH. A syndrome of infantilism, congenital webbed neck, and cubitus valgus. Endocrinology, 1938; 23(5): 566–574