Cornelia de Lange (1871-1950) en haar syndroom
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Geschiedenis
17-02-2011
Jan van Gijn en Joost P. Gijselhart

Cornelia de Lange (1871-1950) and her syndrome

Cornelia de Lange was the second professor of paediatrics in Amsterdam and the first woman in the Netherlands to become a full professor. She devoted much energy to the advancement of baby and child care and published extensively on a variety of subjects, especially brain disease in children. She identified the condition to which her name became linked as a separate syndrome in 1933, when she reported two unrelated children with low birth weight, mental retardation, microcephaly, adjoining eyebrows, long eyelashes, small hands with proximally placed thumbs, and low-set ears. Bachmann (Germany) had published on a similar, single case in 1916. The syndrome is now one of the so-called cohesinopathies.

Conflict of interest: none declared. Financial support: J.P. Gijselhart works part time for the Association of the Dutch Journal of Medicine (Vereniging Nederlands Tijdschrift voor Geneeskunde), Amsterdam.