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

A case report of an 11-year-old boy with a de novo variant in NOTCH2 and clinical features characteristic of Hajdu-Cheney syndrome is reported, with acroosteolysis of the distal phalanges of the feet and hands, generalized osteoporosis, musculoskeletal and craniofacial alterations, short stature, bo...

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Autores principales: Cortés-Martín, Jonathan, Díaz-Rodríguez, Lourdes, Piqueras-Sola, Beatriz, Sánchez-García, Juan Carlos, González, Antonio Liñán, Rodríguez-Blanque, Raquel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9457082/
https://www.ncbi.nlm.nih.gov/pubmed/36079132
http://dx.doi.org/10.3390/jcm11175205
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author Cortés-Martín, Jonathan
Díaz-Rodríguez, Lourdes
Piqueras-Sola, Beatriz
Sánchez-García, Juan Carlos
González, Antonio Liñán
Rodríguez-Blanque, Raquel
author_facet Cortés-Martín, Jonathan
Díaz-Rodríguez, Lourdes
Piqueras-Sola, Beatriz
Sánchez-García, Juan Carlos
González, Antonio Liñán
Rodríguez-Blanque, Raquel
author_sort Cortés-Martín, Jonathan
collection PubMed
description A case report of an 11-year-old boy with a de novo variant in NOTCH2 and clinical features characteristic of Hajdu-Cheney syndrome is reported, with acroosteolysis of the distal phalanges of the feet and hands, generalized osteoporosis, musculoskeletal and craniofacial alterations, short stature, bowing of long bones, vertebral anomalies, genu recurvatum, hypertrichosis, joint and skin hyperlaxity, atopic dermatitis, megalocorneas, micrognathia and frequent respiratory infections, among others. Treatment is with bisphosphonates in the framework of bone density improvement and with focal vibration therapy for rehabilitation of the musculoskeletal system and gait improvement. The three generalities of this pathology—phenotypic variability, degenerative character and the presence of generalized osteoporosis and acroosteolysis of the distal phalanges—are seen in this case, whose diagnostic confirmation was made by genetic study.
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spelling pubmed-94570822022-09-09 Hajdu-Cheney Syndrome: A Novel NOTCH2 Mutation in a Spanish Child in Treatment with Vibrotherapy: A Case Report Cortés-Martín, Jonathan Díaz-Rodríguez, Lourdes Piqueras-Sola, Beatriz Sánchez-García, Juan Carlos González, Antonio Liñán Rodríguez-Blanque, Raquel J Clin Med Case Report A case report of an 11-year-old boy with a de novo variant in NOTCH2 and clinical features characteristic of Hajdu-Cheney syndrome is reported, with acroosteolysis of the distal phalanges of the feet and hands, generalized osteoporosis, musculoskeletal and craniofacial alterations, short stature, bowing of long bones, vertebral anomalies, genu recurvatum, hypertrichosis, joint and skin hyperlaxity, atopic dermatitis, megalocorneas, micrognathia and frequent respiratory infections, among others. Treatment is with bisphosphonates in the framework of bone density improvement and with focal vibration therapy for rehabilitation of the musculoskeletal system and gait improvement. The three generalities of this pathology—phenotypic variability, degenerative character and the presence of generalized osteoporosis and acroosteolysis of the distal phalanges—are seen in this case, whose diagnostic confirmation was made by genetic study. MDPI 2022-09-02 /pmc/articles/PMC9457082/ /pubmed/36079132 http://dx.doi.org/10.3390/jcm11175205 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Cortés-Martín, Jonathan
Díaz-Rodríguez, Lourdes
Piqueras-Sola, Beatriz
Sánchez-García, Juan Carlos
González, Antonio Liñán
Rodríguez-Blanque, Raquel
Hajdu-Cheney Syndrome: A Novel NOTCH2 Mutation in a Spanish Child in Treatment with Vibrotherapy: A Case Report
title Hajdu-Cheney Syndrome: A Novel NOTCH2 Mutation in a Spanish Child in Treatment with Vibrotherapy: A Case Report
title_full Hajdu-Cheney Syndrome: A Novel NOTCH2 Mutation in a Spanish Child in Treatment with Vibrotherapy: A Case Report
title_fullStr Hajdu-Cheney Syndrome: A Novel NOTCH2 Mutation in a Spanish Child in Treatment with Vibrotherapy: A Case Report
title_full_unstemmed Hajdu-Cheney Syndrome: A Novel NOTCH2 Mutation in a Spanish Child in Treatment with Vibrotherapy: A Case Report
title_short Hajdu-Cheney Syndrome: A Novel NOTCH2 Mutation in a Spanish Child in Treatment with Vibrotherapy: A Case Report
title_sort hajdu-cheney syndrome: a novel notch2 mutation in a spanish child in treatment with vibrotherapy: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9457082/
https://www.ncbi.nlm.nih.gov/pubmed/36079132
http://dx.doi.org/10.3390/jcm11175205
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