Genetic testing is useful in adults with limited phenotypes of genetic skeletal conditions.
Genetic diseases
Genetic mutations
Pathogenetic sclerosis
Phenotype
Journal
Bone
ISSN: 1873-2763
Titre abrégé: Bone
Pays: United States
ID NLM: 8504048
Informations de publication
Date de publication:
05 2020
05 2020
Historique:
received:
16
09
2019
revised:
11
12
2019
accepted:
28
12
2019
pubmed:
4
1
2020
medline:
18
5
2021
entrez:
4
1
2020
Statut:
ppublish
Résumé
We show the value of genetic screening in 3 adults with limited phenotypes of three bone sclerosing genetic disease (GD): osteopetrosis (OPT), Camurati-Engelmann disease (CED) and pycnodysostosis. OPT, CED and pycnodysostosis are three rare bone diseases often diagnosed in childhood. However, some atypical phenotypes raise the problem of delayed diagnosis in adults. Genetic tests may then be useful to establish a formal diagnosis. We report 3 cases of adult patients with symptomatic or asymptomatic bone sclerosing lesions for whom the clinical, radiological and biological explorations were atypical and did not allow a formal diagnosis. These unusual descriptions led to the search for genetic mutations. These 3 cases of limited phenotypes were associated with unknown or poorly described variants of 3 rare bone genetic diseases. Genetic tests proved useful to establish the diagnosis and manage the condition of adults with rare bone sclerosing GD.
Identifiants
pubmed: 31899347
pii: S8756-3282(19)30514-9
doi: 10.1016/j.bone.2019.115218
pii:
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
115218Informations de copyright
Copyright © 2020 Elsevier Inc. All rights reserved.