Does brittle cornea syndrome have a bone fragility phenotype?
Bone density
Brittle cornea syndrome
Ehlers-Danlos syndrome
Fractures
Journal
Bone reports
ISSN: 2352-1872
Titre abrégé: Bone Rep
Pays: United States
ID NLM: 101646176
Informations de publication
Date de publication:
Dec 2021
Dec 2021
Historique:
received:
12
07
2021
revised:
27
08
2021
accepted:
28
08
2021
entrez:
15
9
2021
pubmed:
16
9
2021
medline:
16
9
2021
Statut:
epublish
Résumé
Brittle cornea syndrome is a rare recessively inherited disorder (a sub-type of Ehlers-Danlos syndrome) with a clinical presentation dominated by corneal fragility and deafness. There have been suggestions that it may also have a bone fragility phenotype, but there has been little detailed description. We describe two siblings with brittle cornea syndrome due to compound heterozygous mutations in
Identifiants
pubmed: 34522702
doi: 10.1016/j.bonr.2021.101124
pii: S2352-1872(21)00381-8
pmc: PMC8426531
doi:
Types de publication
Case Reports
Langues
eng
Pagination
101124Informations de copyright
© 2021 The Authors. Published by Elsevier Inc.
Références
Curr Osteoporos Rep. 2020 Apr;18(2):95-102
pubmed: 32162201
PLoS Genet. 2012;8(5):e1002711
pubmed: 22589746
Orphanet J Rare Dis. 2013 May 04;8:68
pubmed: 23642083
PLoS Genet. 2010 May 13;6(5):e1000947
pubmed: 20485516
Bone. 2016 Mar;84:88-92
pubmed: 26708925
Am J Hum Genet. 2005 Nov;77(5):741-53
pubmed: 16252235
Acta Pathol Microbiol Scand A. 1978 Jan;86(1):70-81
pubmed: 76415
Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26
pubmed: 28306229
Osteoporos Int. 2016 Aug;27(8):2525-31
pubmed: 27084695
Calcif Tissue Int. 2020 Sep;107(3):294-299
pubmed: 32671420
Hum Mutat. 2021 Jun;42(6):711-730
pubmed: 33739556
Hum Genet. 2012 Nov;131(11):1783-93
pubmed: 22814818
Invest Ophthalmol Vis Sci. 2010 Jan;51(1):47-52
pubmed: 19661234
Am J Hum Genet. 2011 Jun 10;88(6):767-777
pubmed: 21664999