Legg‐Calvé‐Perthes disease in a patient with Bardet‐Biedl syndrome: A case report of a novel MKKS/BBS6 mutation

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.

Detalles Bibliográficos
Autores principales: Mishima, Kenichi, Fujita, Atsushi, Mizuno, Seiji, Matsushita, Masaki, Nagata, Tadashi, Kamiya, Yasunari, Miyake, Noriko, Matsumoto, Naomichi, Imagama, Shiro, Kitoh, Hiroshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7752338/
https://www.ncbi.nlm.nih.gov/pubmed/33363891
http://dx.doi.org/10.1002/ccr3.3357
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author Mishima, Kenichi
Fujita, Atsushi
Mizuno, Seiji
Matsushita, Masaki
Nagata, Tadashi
Kamiya, Yasunari
Miyake, Noriko
Matsumoto, Naomichi
Imagama, Shiro
Kitoh, Hiroshi
author_facet Mishima, Kenichi
Fujita, Atsushi
Mizuno, Seiji
Matsushita, Masaki
Nagata, Tadashi
Kamiya, Yasunari
Miyake, Noriko
Matsumoto, Naomichi
Imagama, Shiro
Kitoh, Hiroshi
author_sort Mishima, Kenichi
collection PubMed
description 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.
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spelling pubmed-77523382020-12-23 Legg‐Calvé‐Perthes disease in a patient with Bardet‐Biedl syndrome: A case report of a novel MKKS/BBS6 mutation Mishima, Kenichi Fujita, Atsushi Mizuno, Seiji Matsushita, Masaki Nagata, Tadashi Kamiya, Yasunari Miyake, Noriko Matsumoto, Naomichi Imagama, Shiro Kitoh, Hiroshi Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2020-09-21 /pmc/articles/PMC7752338/ /pubmed/33363891 http://dx.doi.org/10.1002/ccr3.3357 Text en © 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Mishima, Kenichi
Fujita, Atsushi
Mizuno, Seiji
Matsushita, Masaki
Nagata, Tadashi
Kamiya, Yasunari
Miyake, Noriko
Matsumoto, Naomichi
Imagama, Shiro
Kitoh, Hiroshi
Legg‐Calvé‐Perthes disease in a patient with Bardet‐Biedl syndrome: A case report of a novel MKKS/BBS6 mutation
title Legg‐Calvé‐Perthes disease in a patient with Bardet‐Biedl syndrome: A case report of a novel MKKS/BBS6 mutation
title_full Legg‐Calvé‐Perthes disease in a patient with Bardet‐Biedl syndrome: A case report of a novel MKKS/BBS6 mutation
title_fullStr Legg‐Calvé‐Perthes disease in a patient with Bardet‐Biedl syndrome: A case report of a novel MKKS/BBS6 mutation
title_full_unstemmed Legg‐Calvé‐Perthes disease in a patient with Bardet‐Biedl syndrome: A case report of a novel MKKS/BBS6 mutation
title_short Legg‐Calvé‐Perthes disease in a patient with Bardet‐Biedl syndrome: A case report of a novel MKKS/BBS6 mutation
title_sort legg‐calvé‐perthes disease in a patient with bardet‐biedl syndrome: a case report of a novel mkks/bbs6 mutation
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7752338/
https://www.ncbi.nlm.nih.gov/pubmed/33363891
http://dx.doi.org/10.1002/ccr3.3357
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