title: Two-year cyclic infusion of pamidronate improves bone mass density and eliminates risk of fractures in a girl with osteoporosis due to Hajdu-Cheney syndrome.
abstract: Hajdu-Cheney syndrome (HCS) is a rare disorder principally characterized by acro-osteolysis, distinctive craniofacial and skull changes, dental anomalies and short stature. A common finding in HCS patients is secondary osteoporosis that progresses over time and contributes to various skeletal problems, especially fractures. Although autosomal dominant inheritance has been documented in several families, sporadic (non-familial) cases have also been reported. Here, a case of a 9-year-old girl with familial HCS and multiple spinal fractures, who has been effectively treated with pamidronate, is presented. This is the first report of a beneficial effect of intravenous bisphosphonate administration on a child with HCS-related osteoporosis.
authors: 14th Department of Pediatrics, Faculty of MedicineAristotle University of Thessaloniki, Papageorgiou General Hospital, Greece. gallitsin@gmail.com
authors: A
authors: A
authors: Galli-Tsinopoulou
authors: I
authors: I
authors: Kyrgios
authors: S
authors: S
authors: Giza
authors: E Z
authors: EZ
authors: Giannopoulou
authors: I
authors: I
authors: Maggana
authors: N
authors: N
authors: Laliotis
mesh_terms: D000015:Abnormalities, Multiple; D030981:Acro-Osteolysis / Q000188:drug therapy; D015519:Bone Density / Q000187:drug effects*; D050071:Bone Density Conservation Agents / Q000008:administration & dosage*; D002648:Child; D004164:Diphosphonates / Q000008:administration & dosage*; D004334:Drug Administration Schedule; D005260:Female; D005500:Follow-Up Studies; D031845:Hajdu-Cheney Syndrome / Q000188:drug therapy* / Q000235:genetics / Q000473:pathology; D006801:Humans; D007260:Infusion Pumps; D010024:Osteoporosis / Q000188:drug therapy* / Q000235:genetics / Q000473:pathology; D058866:Osteoporotic Fractures / Q000209:etiology; D000077268:Pamidronate; D010375:Pedigree; D016103:Spinal Fractures / Q000188:drug therapy / Q000235:genetics / Q000517:prevention & control; D013997:Time Factors; D016896:Treatment Outcome
chemical_list: D050071:Bone Density Conservation Agents; D004164:Diphosphonates; D000077268:Pamidronate