Hand Deformities in Hajdu-Cheney Syndrome: A Case Series of 3 Patients Across 3 Consecutive Generations
| Autor: | Julie Medina-Gontier, Jonathan Caballero, I. Jiménez, Jose Medina |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Hand deformity
030222 orthopedics Pediatrics medicine.medical_specialty Hajdu–Cheney syndrome business.industry Osteoporosis 030230 surgery medicine.disease Medical care Bone resorption Acro-Osteolysis Variable phenotypic severity 03 medical and health sciences 0302 clinical medicine Medicine Orthopedics and Sports Medicine Surgery Craniofacial business |
| Zdroj: | The Journal of Hand Surgery. 46:73.e1-73.e5 |
| ISSN: | 0363-5023 |
| Popis: | Hajdu-Cheney syndrome is a rare condition characterized by acro-osteolysis, osteoporosis, and multiple craniofacial anomalies. The goal of treatment is to reduce the associated symptoms and to prevent osteoporotic fractures. This is a report of 3 patients across consecutive generations demonstrating variable phenotypic severity. The hand surgeon was the first medical care provider visited by the patients because of the shortening of the fingers. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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