The first documented case was in 1916 by
Winfried Robert Clemens Brachmann (1888-1969), a German physician who wrote about the distinctive features of the disease found in his 19-day-old patient. Walther Johann Brachmann was qualified in medicine in 1913 and obtained an appointment as a clinical assistant at the children's hospital in Güttingen. While working at this hospital in 1916, he observed a 19-day-old child who died of pneumonia and wrote a detailed report on the case. His report consisted of several features of the disease that had not been mentioned before in the history of pediatric medicine. The boy died, however, on the nineteenth day from malnutrition. The child had significant malformations; Brachmann identified the most conspicuous anomaly as "Monodactyl due to ulnar defect, with Flight skin formation in the elbows." In addition, the child was very young and showed excessive hair growth. His facial features were also abnormal, especially the widening of the forehead. As Brachmann concluded in his article, the tendency for variations or anomalies in this individual was unmistakable. Since Brachmann was called to military action in the First World War, his research on the specific condition of the boy was stopped. Later in 1933,
Cornelia Catharina de Lange (1871-1951), a Dutch pediatrician, redescribed it; the disorder has been named for her. She enrolled in the University of Zurich to study chemistry but changed her focus to medicine in 1892. She crossed the prejudices of her time, studying to become a physician. She graduated from the University of Amsterdam in 1897, becoming the fifth woman physician to qualify in the Netherlands. However, because pediatrics did not exist as a specialty in the Netherlands, De Lange moved to Switzerland, where she worked in the children's hospital in Zurich under Oskar Wyss. Cornelia de Lange's patients were two girls with unusual facies and intellectual disability—one 17 months and the other 6 months—who were admitted within weeks of each other to Emma Children's Hospital. In addition to performing neurological and radiographic examination, De Lange also collected the data from the autopsy performed on one of the first two girls she observed and reported the results of the macroscopic and microscopic examination of the cerebral hemispheres. This child died at five years and nine months in an asylum. No abnormalities were found in the organs of the chest and endocrine system. The peritoneum, however, had shown anomalies that are common among mammals, but not among humans. In addition, microscopic tests of the right hemisphere had revealed a reduced number of brain wraps. Again, De Lange was aware that further studies were needed to unravel the underlying pathological anatomy of the identified condition. However, with both her articles, in 1933 and 1938, De Lange described a rare new condition called "typus Amstelodamensis". In her discovery, her meticulous observations of the specific phenotypic abnormalities had been crucial. Furthermore, her research in the anatomo-pathological abnormalities was supportive in unveiling the first knowledge of the endo-phenotype of these clinical cases. In a review in 1985, John Marius Opitz commented: "Brachmann's paper is a classic of Western Medical iconography, deserving to be commemorated in the eponym "Brachmann-de Lange syndrome." This conjoined eponym is now generally accepted, although the term "de Lange" or Cornelia de Lange's syndrome is also common. This condition is described sometimes as one syndrome, sometimes as two. ==See also==