Idiopathic acro-osteolysis: Hajdu Cheney syndrome
نویسندگان
چکیده
منابع مشابه
A patient with acro-osteolysis syndrome: Hajdu-Cheney.
Hajdu-Cheney syndrome is an autosomal dominant acroosteolysis syndrome, in which clinical and radiological abnormalities develop at different stages of life. A 26-year-old woman visited our rheumatology clinic for progressive shortening of her terminal phalanges. Radiographs showed acro-osteolysis and classic midphalangeal band-like resorption of the terminal phalanges affecting multiple digits...
متن کاملEffect of Zoledronic Acid on Acro-Osteolysis and Osteoporosis in a Patient with Hajdu-Cheney Syndrome
Hajdu-Cheney syndrome is a rare, autosomal dominant skeletal dysplasia marked by acro-osteolysis of the distal phalanges and severe osteoporosis. Although there are more than 60 reports published to date, proper treatment and subsequent outcome have been scarce. Herein, we report a progress of anti-resorptive therapy with zoledronic acid, in a woman with Hajdu-Cheney syndrome. Results suggest t...
متن کاملHajdu-Cheney syndrome: a review
Hajdu Cheney Syndrome (HCS), Orpha 955, is a rare disease characterized by acroosteolysis, severe osteoporosis, short stature, specific craniofacial features, wormian bones, neurological symptoms, cardiovascular defects and polycystic kidneys. HCS is rare and is inherited as autosomal dominant although many sporadic cases have been reported. HCS is associated with mutations in exon 34 of NOTCH2...
متن کاملIdiopathic multicentric osteolysis with acro-osteolysis. A case report.
We report a case of multicentric massive osteolysis. A 52-year-old woman presented with a three-year history of progressive deformities of the hands. She had osteolytic lesions of the metacarpals and metatarsals, and resorption of the terminal phalanges. During follow-up over four years osteolysis spread to affect the ribs, clavicles, mandible, and long bones. There was no family history of any...
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ژورنال
عنوان ژورنال: Our Dermatology Online
سال: 2019
ISSN: 2081-9390
DOI: 10.7241/ourd.20194.17