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Distinct severity of phenotype in Hajdu-Cheney syndrome: a case report and literature review

Abstract Background Hajdu-Cheney syndrome (HCS) is a rare inherited skeletal disorder caused by pathogenic mutations in exon 34 of NOTCH2. Its highly variable phenotypes make early diagnosis challenging. In this paper, we report a case of early-onset HCS with severe phenotypic manifestations but del...

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Principais autores: Chunhua Zeng, Yunting Lin, Zhikun Lu, Zhen Chen, Xiaoling Jiang, Xiaojian Mao, Zongcai Liu, Xinshuo Lu, Kangdi Zhang, Qiaoli Yu, Xiaoya Wang, Yonglan Huang, Li Liu
Formato: Artigo
Idioma:Inglês
Publicado em: BMC 2020-03-01
coleção:BMC Musculoskeletal Disorders
Assuntos:
NOTCH2
Hajdu-Cheney syndrome
Osteoporosis
Acro-osteolysis
Acesso em linha:http://link.springer.com/article/10.1186/s12891-020-3181-0
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