Literature DB >> 32241674

Hand Deformities in Hajdu-Cheney Syndrome: A Case Series of 3 Patients Across 3 Consecutive Generations.

Isidro Jiménez1, Julie Medina-Gontier2, Jonathan Caballero3, José Medina4.   

Abstract

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.
Copyright © 2021 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Acro-osteolysis; Hajdu-Cheney syndrome; bone resorption; osteoporosis; wormian skull bones

Year:  2020        PMID: 32241674     DOI: 10.1016/j.jhsa.2020.02.012

Source DB:  PubMed          Journal:  J Hand Surg Am        ISSN: 0363-5023            Impact factor:   2.230


  2 in total

1.  Hajdu-Cheney Syndrome: A Novel NOTCH2 Mutation in a Spanish Child in Treatment with Vibrotherapy: A Case Report.

Authors:  Jonathan Cortés-Martín; Lourdes Díaz-Rodríguez; Beatriz Piqueras-Sola; Juan Carlos Sánchez-García; Antonio Liñán González; Raquel Rodríguez-Blanque
Journal:  J Clin Med       Date:  2022-09-02       Impact factor: 4.964

2.  Hajdu-Cheney Syndrome: Report of a Case in Spain.

Authors:  Jonathan Cortés-Martín; Juan Carlos Sánchez-García; Beatriz Piqueras-Sola; Raquel Rodríguez-Blanque; María Isabel Tovar-Gálvez; Lourdes Díaz-Rodríguez
Journal:  Diagnostics (Basel)       Date:  2022-02-23
  2 in total

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