Why is it called Cornelia de Lange Syndrome?
In 1933, Dr. Cornelia de Lange, a Dutch paediatrician, described two children with similar features, one 17 months and the other 6 months, who were admitted within weeks of each other to Emma Children’s Hospital. The first child had pneumonia. Her first year of life had been characterised by a lot of feeding difficulties and she was very small for her age, with a proportionately smaller head circumference. Dr. de Lange noted other unusual facial characteristics. Soon after this child was discharged, a second little girl was admitted. Not only did they have common medical problems, but their resemblance to each other was remarkable. In each case the doctor described what she observed with great care and detail. Professor de Lange followed her own advice: “Observe closely first.” Nowhere was the puzzled physician able to find a similar patient described in medical literature. Cornelia de Lange is now generally credited with describing the collection of symptoms comprising the syndrome th
