Legg-Calvé-Perthes disease in a patient with Bardet-Biedl syndrome: A case report of a novel

Bardet‐Biedl syndrome Legg‐Calvé‐Perthes disease MKKS/BBS6 gene osteochondrosis surgical containment

Journal

Clinical case reports
ISSN: 2050-0904
Titre abrégé: Clin Case Rep
Pays: England
ID NLM: 101620385

Informations de publication

Date de publication:
Dec 2020
Historique:
received: 22 07 2020
revised: 18 08 2020
accepted: 30 08 2020
entrez: 28 12 2020
pubmed: 29 12 2020
medline: 29 12 2020
Statut: epublish

Résumé

This article reports a girl with Bardet-Biedl syndrome (BBS) having a novel causative mutation who developed Legg-Calvé-Perthes disease (LCPD). There exists a possibility that the prognosis of LCPD had been adversely affected by the concomitant BBS.

Identifiants

pubmed: 33363891
doi: 10.1002/ccr3.3357
pii: CCR33357
pmc: PMC7752338
doi:

Types de publication

Case Reports

Langues

eng

Pagination

3110-3115

Informations de copyright

© 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.

Déclaration de conflit d'intérêts

The authors declare that they have no competing interests.

Références

Hum Genet. 2006 Mar;119(1-2):199-205
pubmed: 16404586
J Cell Physiol. 2018 Aug;233(8):5598-5612
pubmed: 29150936
J Hum Genet. 2019 Oct;64(10):967-978
pubmed: 31337854
Nat Genet. 2007 Nov;39(11):1350-60
pubmed: 17906624
Clin Orthop Relat Res. 2005 Jan;(430):163-70
pubmed: 15662319
J Bone Joint Surg Am. 2004 Oct;86(10):2103-20
pubmed: 15466719
J Bone Miner Res. 2012 Aug;27(8):1680-94
pubmed: 22508079
J Pediatr Orthop. 2004 Jan-Feb;24(1):92-6
pubmed: 14676542
J Bone Joint Surg Am. 2004 Jan;86(1):129-35
pubmed: 14711955
Adv Exp Med Biol. 2018;1085:171-174
pubmed: 30578506
J Bone Joint Surg Am. 2013 Feb 20;95(4):354-61
pubmed: 23426770
Clin Genet. 2016 Jul;90(1):3-15
pubmed: 26762677
Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):165-74
pubmed: 22791528
Clin Cases Miner Bone Metab. 2017 Jan-Apr;14(1):74-82
pubmed: 28740529
J Orthop Sci. 2006 Jul;11(4):333-41
pubmed: 16897195

Auteurs

Kenichi Mishima (K)

Department of Orthopaedic Surgery Nagoya University Graduate School of Medicine Nagoya Japan.

Atsushi Fujita (A)

Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan.

Seiji Mizuno (S)

Division of Medical Genetics Aichi Developmental Disability Center Kasugai Japan.

Masaki Matsushita (M)

Department of Orthopaedic Surgery Nagoya University Graduate School of Medicine Nagoya Japan.

Tadashi Nagata (T)

Department of Orthopaedic Surgery Nagoya University Graduate School of Medicine Nagoya Japan.

Yasunari Kamiya (Y)

Department of Orthopaedic Surgery Nagoya University Graduate School of Medicine Nagoya Japan.

Noriko Miyake (N)

Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan.

Naomichi Matsumoto (N)

Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan.

Shiro Imagama (S)

Department of Orthopaedic Surgery Nagoya University Graduate School of Medicine Nagoya Japan.

Hiroshi Kitoh (H)

Department of Orthopaedic Surgery Aichi Children's Health and Medical Center Obu Japan.

Classifications MeSH