Open AccessLegg‐Calvé‐Perthes disease in a patient with Bardet‐Biedl syndrome: A case report of a novel MKKS/BBS6 mutation
Author(s) -
Mishima Kenichi,
Fujita Atsushi,
Mizuno Seiji,
Matsushita Masaki,
Nagata Tadashi,
Kamiya Yasunari,
Miyake Noriko,
Matsumoto Naomichi,
Imagama Shiro,
Kitoh Hiroshi
Publication year - 2020
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.3357
Subject(s) - bardet–biedl syndrome , legg calve perthes disease , medicine , pediatrics , disease , concomitant , genetics , biology , phenotype , gene
Abstract 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.