title: Proximal symphalangism and premature ovarian failure.
abstract: Proximal symphalangism is a rare autosomal dominant affection responsible for multiple joint ankylosis, it results from NOG gene mutation whose locus is on 17q21-22. This gene may be involved in secretory functions of glands such as ovarian function. Premature ovarian failure is idiopathic in 80% of cases but may be secondary to multiple etiologies including genetic. We report the case of a patient with proximal symphalangism and premature ovarian failure, and we discuss the possibility of genetic relationship between the two anomalies.
authors.affiliation: Department of Rheumatology, University Hospital Center Hassan II, Fes, Morocco. nadiramede@hotmail.com
authors.forename: Nadira
authors.initials: N
authors.lastname: Kadi
authors.forename: Latifa
authors.initials: L
authors.lastname: Tahiri
authors.forename: Mariame
authors.initials: M
authors.lastname: Maziane
authors.forename: Fatima Zahra
authors.initials: FZ
authors.lastname: Mernissi
authors.forename: Taoufik
authors.initials: T
authors.lastname: Harzy
mesh_terms: D000844:Ankylosis / Q000175:diagnosis / Q000000981:diagnostic imaging; D059327:Brachydactyly / Q000175:diagnosis* / Q000235:genetics; D002348:Carpal Bones / Q000002:abnormalities; D002352:Carrier Proteins / Q000235:genetics; D005260:Female; D005532:Foot Deformities, Congenital; D033023:Foot Joints / Q000000981:diagnostic imaging / Q000473:pathology; D006225:Hand / Q000000981:diagnostic imaging; D006228:Hand Deformities, Congenital; D050823:Hand Joints / Q000000981:diagnostic imaging / Q000473:pathology; D034381:Hearing Loss / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D016649:Primary Ovarian Insufficiency / Q000175:diagnosis* / Q000235:genetics; D011859:Radiography; D013199:Stapes / Q000002:abnormalities; D013580:Synostosis / Q000175:diagnosis* / Q000235:genetics; D013639:Tarsal Bones / Q000002:abnormalities; D055815:Young Adult; D000099176:Noggin Protein
chemical_list: D002352:Carrier Proteins; D000099176:Noggin Protein