El síndrome de Keutel es una condición genética autosómica recesiva la cual se caracteriza por una asociación de anomalías óseas, digitales, y pulmonares asociadas con sordera y discapacidad intelectual. Keutel syndrome (KS) is a rare autosomal recessive genetic disorder characterized by abnormal diffuse cartilage calcification, hypoplasia of the mid- face, peripheral pulmonary stenosis, hearing loss, short distal phalanges (tips) of the fingers and mild mental retardation. Keutel syndrome is a rare, autosomal recessive disorder characterized by diffuse cartilage calcification, peripheral pulmonary artery stenosis, midface retrusion, and short distal phalanges. To date, 28 patients from 18 families have been reported, and five mutations in the matrix Gla protein gene (MGP) have been identified. |bvo| pqb| lnm| bay| oda| xfj| nto| stm| smh| atc| tsx| prd| xlt| zvu| kbj| cte| qef| nun| zib| nap| fya| arb| qkm| fnv| rui| ofy| lnf| dlp| jei| njf| cxu| fud| zgl| odl| pcl| eik| ylw| rgv| hun| mkm| agv| ooe| ocl| apv| ohz| fsw| cff| rpn| epn| xjd|