title: A very rare cause of acro-osteolysis: Hajdu-Cheney syndrome.
abstract: Acro-osteolysis is not uncommon and occurs in several conditions. Additional clinical and paraclinical findings and sometimes the performance of molecular tests can help to clarify the diagnosis. Here, we report the case of a 36-year-old woman who was referred to our department because of acute pain in the extremity of the left index finger. However, subsequent clinical examination also revealed short digits with pseudo-clubbing related to acro-osteolysis. Furthermore, severe osteoporosis, a moderate dysmorphic face, joint hypermobility, biological variables within normal ranges and her clinical history led us to consider the diagnosis of Hajdu-Cheney syndrome. Molecular analysis confirmed the diagnosis with the identification of a mutation in the NOTCH2 gene. The patient received bisphosphonate therapy, which resulted in some clinical and biological improvement 12 months later.
authors.affiliation: Service de rhumatologie A, hôpital Cochin, AP-HP, université Paris Descartes, 27, rue du Faubourg-Saint-Jacques, 75014 Paris, France.
authors.forename: Camille
authors.initials: C
authors.lastname: Deprouw
authors.affiliation: Service de radiologie B, hôpital Cochin, AP-HP, université Paris Descartes, 27, rue du Faubourg-Saint-Jacques, 75014 Paris, France.
authors.forename: Antoine
authors.initials: A
authors.lastname: Feydy
authors.affiliation: Service de rhumatologie A, hôpital Cochin, AP-HP, université Paris Descartes, 27, rue du Faubourg-Saint-Jacques, 75014 Paris, France; Orphanet - Inserm US14, plateforme maladies rares, 96, rue Didot, 75014 Paris, France.
authors.forename: Janine-Sophie
authors.initials: JS
authors.lastname: Giraudet Le Quintrec
authors.affiliation: Inserm U1016 UMR 8104, hôpital Cochin, université Paris Descartes, 27, rue du Faubourg-Saint-Jacques, 75014 Paris, France.
authors.forename: Barbara
authors.initials: B
authors.lastname: Ruiz
authors.affiliation: Service de rhumatologie A, hôpital Cochin, AP-HP, université Paris Descartes, 27, rue du Faubourg-Saint-Jacques, 75014 Paris, France.
authors.forename: André
authors.initials: A
authors.lastname: Kahan
authors.affiliation: Service de rhumatologie A, hôpital Cochin, AP-HP, université Paris Descartes, 27, rue du Faubourg-Saint-Jacques, 75014 Paris, France; Inserm U1016 UMR 8104, hôpital Cochin, université Paris Descartes, 27, rue du Faubourg-Saint-Jacques, 75014 Paris, France. Electronic address: yannick.allanore@cch.aphp.fr.
authors.forename: Yannick
authors.initials: Y
authors.lastname: Allanore
mesh_terms: D000328:Adult; D004164:Diphosphonates / Q000627:therapeutic use; D005260:Female; D031845:Hajdu-Cheney Syndrome / Q000000981:diagnostic imaging / Q000188:drug therapy* / Q000235:genetics; D006226:Hand Deformities / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000235:genetics; D006801:Humans; D009154:Mutation; D011859:Radiography; D051883:Receptor, Notch2 / Q000235:genetics
chemical_list: D004164:Diphosphonates; D051883:Receptor, Notch2
keywords: Acro-osteolysis; Hajdu-Cheney syndrome; NOTCH2