Keutel-Syndrom

Keutel syndrome is an extremely rare inherited condition characterized by

• cartilage calcification which include
  • 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 autosomal recessive inheritance.

History and etymology

It was first described by J Keutel in 1971 .

Siehe auch:

• Chondrokalzinose
• Brachytelephalangie
• Fetales Warfarinsyndrom
• Pulmonalstenose
• Hereditärer kombinierter Mangel an Vitamin K-abhängigen Gerinnungsfaktoren
• Chondrodysplasie mit Brachytelephalangie

und weiter:

• chondrocalcinosis (mnemonic)
• Kalziumpyrophosphat-Ablagerungskrankheit