Keutel syndrome is an extremely rare inherited condition characterized by
- cartilage calcification which include
- trachea - with resultant tracheobronchial stenosis
- pulmonary arterial stenoses
- brachytelephalangism (short fingers and nails that resemble drumsticks)
- facial dysmorphism
Occurs as a result of matrix γ-carboxyglutamate protein (MGP) mutations.
It is thought to carry autosomal recessive inheritance.
History and etymology
It was first described by J Keutel in 1971 2.
- 1. M. Meier, L.P. Weng, E. Alexandrakis, J. Rüschoff, G. Goeckenjan. Tracheobronchial stenosis in Keutel syndrome. (2001) European Respiratory Journal. 17 (3): 566. Pubmed
- 2. Keutel J, Jörgensen G, Gabriel P. [A new autosomal-recessive hereditary syndrome. Multiple peripheral pulmonary stenosis, brachytelephalangia, inner-ear deafness, ossification or calcification of cartilages]. (1971) Deutsche medizinische Wochenschrift (1946). 96 (43): 1676-81 passim. doi:10.1055/s-0028-1110200 - Pubmed
- 3. Bayramoğlu A, Saritemur M, Tasdemir S, Omeroglu M, Erdem HB, Sahin I. A rare cause of dyspnea in emergency medicine: Keutel syndrome. (2016) The American journal of emergency medicine. 34 (5): 935.e3-5. doi:10.1016/j.ajem.2015.09.020 - Pubmed