Acroosteolysis and facial dysmorphia: a new case of Hajdu-Cheney syndrome.
Acroosteolysis
Acroosteólisis
Hajdu-Cheney syndrome
NOTCH2
Síndrome Hajdu-Cheney
Journal
Reumatologia clinica
ISSN: 2173-5743
Titre abrégé: Reumatol Clin (Engl Ed)
Pays: Spain
ID NLM: 101717526
Informations de publication
Date de publication:
Nov 2023
Nov 2023
Historique:
received:
06
03
2023
accepted:
24
04
2023
medline:
13
11
2023
pubmed:
20
10
2023
entrez:
20
10
2023
Statut:
ppublish
Résumé
Hajdu-Cheney syndrome or acro-dento-osteo-dysplasia syndrome is a rare disease characterized by band osteolysis of distal phalanges and facial dysmorphia, among other manifestations. We present the case of a 45-year-old male who consulted for mechanical joint pain of both hands, facial dysmorphism, cranio-facial alterations, and digital telescoping with acroosteolysis.
Identifiants
pubmed: 37858457
pii: S2173-5743(23)00145-4
doi: 10.1016/j.reumae.2023.10.001
pii:
doi:
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
527-529Informations de copyright
Copyright © 2023 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.