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Operative Management of Spinal Deformity Secondary to Hajdu-Cheney Syndrome
Hajdu-Cheney syndrome (HCS) is an exceedingly rare disease with fewer than 100 cases described in the medical literature. It is most strongly associated with a defect in the transmembrane protein NOTCH2. Though the exact mechanism in humans is not yet known, the defect results in various skeletal ab...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8451514/ https://www.ncbi.nlm.nih.gov/pubmed/34567878 http://dx.doi.org/10.7759/cureus.17334 |
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author | Falls, Cody J Page, Paul S Stadler, James A |
author_facet | Falls, Cody J Page, Paul S Stadler, James A |
author_sort | Falls, Cody J |
collection | PubMed |
description | Hajdu-Cheney syndrome (HCS) is an exceedingly rare disease with fewer than 100 cases described in the medical literature. It is most strongly associated with a defect in the transmembrane protein NOTCH2. Though the exact mechanism in humans is not yet known, the defect results in various skeletal abnormalities including severe osteoporosis placing these patients at high risk for progressive spinal deformity. Due to various common syndromic features including ligamentous laxity, increased osteoclast activity, skeletal malformations, patency of cranial sutures, and the aforementioned severe osteoporosis, these patients require special consideration from treating surgeons. There are currently only nine reported cases of spinal surgery in HCS patients. Herein, we describe the cases of two patients with HCS requiring surgery for progressive spinal deformity. Six months following surgery, both patients reported excellent outcomes with significant improvement in symptoms. |
format | Online Article Text |
id | pubmed-8451514 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Cureus |
record_format | MEDLINE/PubMed |
spelling | pubmed-84515142021-09-23 Operative Management of Spinal Deformity Secondary to Hajdu-Cheney Syndrome Falls, Cody J Page, Paul S Stadler, James A Cureus Pediatric Surgery Hajdu-Cheney syndrome (HCS) is an exceedingly rare disease with fewer than 100 cases described in the medical literature. It is most strongly associated with a defect in the transmembrane protein NOTCH2. Though the exact mechanism in humans is not yet known, the defect results in various skeletal abnormalities including severe osteoporosis placing these patients at high risk for progressive spinal deformity. Due to various common syndromic features including ligamentous laxity, increased osteoclast activity, skeletal malformations, patency of cranial sutures, and the aforementioned severe osteoporosis, these patients require special consideration from treating surgeons. There are currently only nine reported cases of spinal surgery in HCS patients. Herein, we describe the cases of two patients with HCS requiring surgery for progressive spinal deformity. Six months following surgery, both patients reported excellent outcomes with significant improvement in symptoms. Cureus 2021-08-20 /pmc/articles/PMC8451514/ /pubmed/34567878 http://dx.doi.org/10.7759/cureus.17334 Text en Copyright © 2021, Falls et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Pediatric Surgery Falls, Cody J Page, Paul S Stadler, James A Operative Management of Spinal Deformity Secondary to Hajdu-Cheney Syndrome |
title | Operative Management of Spinal Deformity Secondary to Hajdu-Cheney Syndrome |
title_full | Operative Management of Spinal Deformity Secondary to Hajdu-Cheney Syndrome |
title_fullStr | Operative Management of Spinal Deformity Secondary to Hajdu-Cheney Syndrome |
title_full_unstemmed | Operative Management of Spinal Deformity Secondary to Hajdu-Cheney Syndrome |
title_short | Operative Management of Spinal Deformity Secondary to Hajdu-Cheney Syndrome |
title_sort | operative management of spinal deformity secondary to hajdu-cheney syndrome |
topic | Pediatric Surgery |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8451514/ https://www.ncbi.nlm.nih.gov/pubmed/34567878 http://dx.doi.org/10.7759/cureus.17334 |
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