(Pulmonary stenosis syndrome - brachytelephalangia - calcification of cartilage)
Prevalence < 1.106. Autosomal recessive transmission of a mutation of the MGP gene (12p13.1 - 12p12.3).
Association of:
- peripheral stenosis of the pulmonary arteries
- calcification of cartilage in the ears, nose, larynx, tracheobronchial tree (respiratory problems, "asthma"); image of spotted epiphyses of the long bones
- brachytelephalangia: small terminal phalanges
- facial dysmorphism: elongated face with midface hypoplasia, thin nose with a wide base
Sometimes: deafness, short stature, epilepsy, light intellectual deficit.
More rarely: encephalomalacia with white matter abnormalities and optic nerve atrophy.
Anesthetic implications:
echocardiography: stenosis of the pulmonary arteries, ventricular function; high blood pressure; bronchodilator before induction of anesthesia; endotracheal tubes of different sizes should be foreseen: measurement of the diameter of the subglottis by XRay or U.S. before induction ? Risk of difficult intubation. Cases of postoperative respiratory failure have been described in adults.
References :
- Meier M, Weng LP, Alexandrakis E, Rüschoff J, Goeckenjan G.
Tracheobronchial stenosis in Keutel syndrome.
Eur Resp J 2001 ; 17 : 566-9.
- Sun L-F, Chen X.
Tracheobronchial tree stenosis in Keutel syndrome.
Indian Pediatr 2012 ; 49 : 759.
- Bosemani T, Felling RJ, Wyse E, Pearl MS et al.
Neuroimaging in children with Keutel syndrome.
Pediatr Radiol 2014 ; 44 : 73-8.
Updated: November 2018