title: Fechtner syndrome: report of a third family and literature review.
abstract: We observed macrothrombocytopenia with leucocyte inclusions in 10 out of 14 members of a four-generation family. Morphological features of leucocyte inclusions and the presence of Alport-related symptoms supported the diagnosis of Fechtner syndrome. Compared to the two previously reported Fechtner families, our kindred showed reduced expression of Alport manifestations. These, in members aged less than 50, were represented by clinically silent ocular abnormalities. Due to the frequent non-recognition of macrothrombocytopenia. Fechtner variants with low penetrance might be difficult to diagnose. In addition, Sebastian syndrome, recently distinguished from Fechtner disease in lacking Alport manifestations, might be one of these variants.
authors.affiliation: Research Centre on Pathophysiology of Haemostasis, Catholic University of Medicine, Rome, Italy.
authors.forename: B
authors.initials: B
authors.lastname: Rocca
authors.forename: F
authors.initials: F
authors.lastname: Laghi
authors.forename: G
authors.initials: G
authors.lastname: Zini
authors.forename: N
authors.initials: N
authors.lastname: Maggiano
authors.forename: R
authors.initials: R
authors.lastname: Landolfi
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001792:Blood Platelets / Q000648:ultrastructure; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D009394:Nephritis, Hereditary / Q000235:genetics; D009504:Neutrophils / Q000648:ultrastructure; D010375:Pedigree; D013577:Syndrome; D013921:Thrombocytopenia / Q000097:blood / Q000235:genetics*