title: Weill-Marchesani syndrome: report of an unusual case.
abstract: We report a single case of Weill-Marchesani syndrome, typically characterized by progressive joint stiffness, brachiymorphy, brachydactyly, and ectopia lentis. The clinical case appears particularly interesting as the patient also had primary osteoporosis, which until now has not been considered as a possible manifestation of Weill-Marchesani syndrome.
authors.affiliation: Institute of Internal Medicine and Medical Pathology University of Siena, viale Bracci 1, 53100 Siena, Italy.
authors.forename: N
authors.initials: N
authors.lastname: Giordano
authors.forename: M
authors.initials: M
authors.lastname: Senesi
authors.forename: E
authors.initials: E
authors.lastname: Battisti
authors.forename: G
authors.initials: G
authors.lastname: Mattii
authors.forename: C
authors.initials: C
authors.lastname: Gennari
mesh_terms: D000328:Adult; D015415:Biomarkers / Q000097:blood; D015519:Bone Density; D001851:Bone Diseases, Metabolic / Q000000981:diagnostic imaging / Q000235:genetics / Q000378:metabolism; D003240:Connective Tissue Diseases / Q000150:complications* / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D004392:Dwarfism / Q000150:complications* / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D006801:Humans; D008297:Male; D010024:Osteoporosis / Q000209:etiology* / Q000378:metabolism; D010641:Phenotype; D011859:Radiography; D013577:Syndrome
chemical_list: D015415:Biomarkers