Thomas Cooley
Thomas Benton Cooley (1871 - 1945) was an American pediatrician and haematologist. Cooley Anemia (1925) [Thalassemia major]
Category Pediatrics
Eeva Therman
Eeva Therman-Patau (1916 - 2004) was a Finnish-American cytogeneticist. Mrs. X Chromosome
Oskar Kobyliński
Carl Oscar Alexander von Kobyliński (1856 - 1926) was a Polish-Baltic German general practitioner. First description of Noonan syndrome (1893)
Jacqueline Noonan
Jacqueline Anne Noonan (1921 - ) American paediatric cardiologist. Noonan syndrome (1968)
John Langdon Down
John Langdon Haydon Langdon-Down (1828 - 1896) was an English
Henry Turner
Henry Hubert Turner (1892 - 1970) was an American endocrinologist. Remembered for Turner syndrome and description in 1938
Wilhelm Ebstein
Wilhelm Ebstein (1836 - 1912) was a Polish-German physician.
Ebstein anomoly
Description What is the actual eponymous medical sign/syndrome/repair/classification… History Associated Persons Wilhelm Ebstein (1836 – 1912) Alternative names Name Name Controversies Did they first describe or popularise or plagiarise? References Ebstein W. Über einen sehr seltenen Fall von Insufficienz der Valvula…
Klaus Patau
Klaus Pätau (1908 - 1975) was a German-born, American Cytogeneticist. Trisomy 13 is most commonly termed Patau Syndrome.
Otto Sprengel
Otto Gerhard Karl Sprengel (1852 - 1915) was a German surgeon. Remembered fro his description of Sprengel deformity (1891) and appendicitis work (1906)
Noonan syndrome
Noonan’s syndrome is an autosomal dominant genetic condition with mutations affecting the RAS signaling pathway. Jacqueline Anne Noonan (1921 - )
Turner syndrome
Ullrich-Turner syndrome