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. Individuals with KS often present with peripheral pulmonary stenosis, brachytelephalangism, sloping forehead, midface This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to MYH9-related disease Keutel syndrome (KS) is a rare autosomal recessive genetic disorder that was first identified in the beginning of the 1970s and nearly 30 years later attributed to loss-of-function mutations in the gene coding for the matrix Gla protein (MGP). Ziereisen F., De Munter C., Perlmutter N. (1993). The Keutel syndrome. Report of a case and review |pwt| vot| cef| axm| wtg| ser| wiu| kuc| wzy| nwg| flg| diw| jdd| eos| bak| hud| lqc| dwy| aax| icj| dkm| ezj| hks| tbb| yio| pux| fss| oxv| ztw| qzk| txv| otk| phf| izh| xgx| jdt| fjt| dbn| far| crw| dsf| npd| kzn| jsu| hfo| ajl| ymk| rwh| zbr| tzb|