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- Title
Toni Mochty: Bardet Biedl syndrome "avant la lettre".
- Authors
de Herder, Wouter
- Abstract
The names of the French physician Georges Louis Bardet (1885-1966) and the Hungarian pathologist-endocrinologist Artur Biedl (1869-1933) are associated with the Bardet-Biedl syndrome (BBS) on which Bardet published in 1920[1] and Biedl in 1922.[2] This autosomal recessive syndrome comprises truncal obesity, cognitive impairment, polydactyly, rod-cone dystrophy (RCD), hypogonadotropic hypogonadism and renal abnormalities. He had numerous brothers and sisters who all had a normal number of toes and fingers and no developmental disorders.[4] In July 1912, Tischer assisted Toni (aged 25, or 26) to board a train, but both fell. Bardet and Biedl apparently were not aware of his existence and as such, he presented with BBS "avant la lettre".
- Subjects
SYNDROMES; LAURENCE-Moon-Biedl syndrome; HIRSCHSPRUNG'S disease; COGNITION disorders; HUMAN behavior
- Publication
Clinical Genetics, 2020, Vol 97, Issue 3, p536
- ISSN
0009-9163
- Publication type
Article
- DOI
10.1111/cge.13647