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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.

TitleTwo-year cyclic infusion of pamidronate improves bone mass density and eliminates risk of fractures in a girl with osteoporosis due to Hajdu-Cheney syndrome.
Publication TypeJournal Article
Year of Publication2012
AuthorsGalli-Tsinopoulou, A., Kyrgios I., Giza S., Giannopoulou E. Z., Maggana I., & Laliotis N.
JournalMinerva Endocrinol
Volume37
Issue3
Pagination283-9
Date Published2012 Sep
ISSN0391-1977
KeywordsAbnormalities, Multiple, Acro-Osteolysis, Bone Density, Bone Density Conservation Agents, Child, Diphosphonates, Drug Administration Schedule, Female, Follow-Up Studies, Hajdu-Cheney Syndrome, Humans, Infusion Pumps, Osteoporosis, Osteoporotic Fractures, Pedigree, Spinal Fractures, Time Factors, Treatment Outcome
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.

Alternate JournalMinerva Endocrinol.
PubMed ID22766895

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