Article
Distinct severity of phenotype in Hajdu-Cheney syndrome: a case report and literature review.
BMC musculoskeletal disorders - 6 Mar 2020
Zeng Chunhua, Lin Yunting, Lu Zhikun, Chen Zhen, Jiang Xiaoling, Mao Xiaojian, Liu Zongcai, Lu Xinshuo, Zhang Kangdi, Yu Qiaoli, Wang Xiaoya, Huang Yonglan, Liu Li
Abstract excerpt
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 delayed diagnosis. CASE PRESENTATION: The patient was born to non-consanguineous, healthy parents of Chinese origin. She...
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