Keutel syndrome is an extremely rare inherited condition.
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Clinical presentation
It is characterized by:
- cartilage calcification of:
- ears
- nose
- larynx
- trachea - with resultant tracheobronchial stenosis
- ribs
- pulmonary arterial stenoses
- brachytelephalangism (short fingers and nails that resemble drumsticks)
- facial dysmorphism
Pathology
Occurs as a result of matrix γ-carboxyglutamate protein (MGP) mutations.
Genetics
It is thought to carry a pattern of autosomal recessive inheritance.
History and etymology
It was first described by J Keutel in 1971 2.
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