Operative Management of Spinal Deformity Secondary to Hajdu-Cheney Syndrome.
craniocervical
deformity
hajdu-cheney syndrome
hcs
metabolic bone disease
pediatric
scoliosis
skeletal
spine
suture diastasis
Journal
Cureus
ISSN: 2168-8184
Titre abrégé: Cureus
Pays: United States
ID NLM: 101596737
Informations de publication
Date de publication:
Aug 2021
Aug 2021
Historique:
accepted:
20
08
2021
entrez:
27
9
2021
pubmed:
28
9
2021
medline:
28
9
2021
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 34567878
doi: 10.7759/cureus.17334
pmc: PMC8451514
doi:
Types de publication
Case Reports
Langues
eng
Pagination
e17334Informations de copyright
Copyright © 2021, Falls et al.
Déclaration de conflit d'intérêts
The authors have declared that no competing interests exist.
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