title: Williams-Beuren syndrome--a rare cause of recurrent hemoptysis.
abstract: Williams-Beuren syndrome (WBS) is a rare genetic disease with a distinctive constellation of clinical findings. The disease can be diagnosed clinically by a recognizable pattern of malformations, including cardiovascular malformations, a characteristic facial dysmorphism, as well as neurological and cognitive features. We present the case of a 23-years-old woman repeatedly admitted to Pulmonology Clinic for massive hemoptysis. Diagnosis of Williams-Beuren syndrome was revealed by clinical findings and confirmed by CT-angiography data of cardiovascular malformations and fluorescence in situ hybridization (FISH) genetic test. WBS is a multisystem disorder and usually is recognized by clinician. If clinical impression is not clearly consistent with WBS, FISH remains the most widely used test.
authors.forename: Victor
authors.initials: V
authors.lastname: Botnaru
authors.forename: Doina
authors.initials: D
authors.lastname: Rusu
authors.forename: Oxana
authors.initials: O
authors.lastname: Munteanu
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D000792:Angiography / Q000379:methods; D056648:Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis / Q000235:genetics; D015415:Biomarkers / Q000097:blood; D002872:Chromosome Deletion; D004549:Elastin / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D005260:Female; D006344:Heart Septal Defects, Atrial / Q000235:genetics; D006469:Hemoptysis / Q000235:genetics*; D006801:Humans; D006976:Hypertension, Pulmonary / Q000235:genetics; D008607:Intellectual Disability / Q000235:genetics; D054461:Lim Kinases / Q000235:genetics*; D035583:Rare Diseases; D012008:Recurrence; D018980:Williams Syndrome / Q000175:diagnosis / Q000235:genetics*
chemical_list: D015415:Biomarkers; D004549:Elastin; D054461:Lim Kinases