FECHTNER SYNDROME VARIANT: A NEW FAMILY WITH MILD ALPORT'S MANIFESTATIONS
نویسندگان
چکیده
منابع مشابه
Fechtner syndrome--a variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia.
This study reports a family comprising four generations in whom nephritis, deafness, congenital cataracts, macrothrombocytopenia, and leukocyte inclusions were observed in varying combinations in eight of 17 members. The family differs from others reported in that their hematologic abnormalities include not only macrothrombocytopenia, but also small, pale blue cytoplasmic inclusions in the neut...
متن کاملFechtner Syndrome-A Variant of Alport’s Syndrome With Leukocyte Inclusions and Macrothrombocytopenia By LoAnn
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doi:10.1160/TH11-07-0474 Thromb Haemost 2012; 107: 590–591 Dear Sirs, Fechtner syndrome (1) is a rare autosomaldominant disorder characterised by thrombocytopenia, giant platelets and features of Alport syndrome, i.e. nephritis, cataract and sensorineural hearing loss. It is one entity of a group of giant platelet disorders caused by mutations of the MYH9 gene, encoding the heavy chain of nonmu...
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All member of family referred to our clinic complaining of white nails. Physical examination revealed clinical features of leukonychia totalis and also the presence of sensor ineural hearing loss (SNHL), palmoplantar keratoderma (PPK) and knuckle pads, the four essential criteria for the diagnosis of Bart Pumphrey syndrome. Three generations were affected with variable presentations in ma...
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ژورنال
عنوان ژورنال: British Journal of Haematology
سال: 1994
ISSN: 0007-1048,1365-2141
DOI: 10.1111/j.1365-2141.1994.tb04813.x