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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...

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Autores principales: Falls, Cody J, Page, Paul S, Stadler, James A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
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.
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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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