[A case of Hajdu-Cheney syndrome]
Zhonghua Er Ke Za Zhi
.
2022 Dec 2;60(12):1334-1336.
doi: 10.3760/cma.j.cn112140-20220617-00563.
[Article in Chinese]
Authors
Y Yang
1
,
W Zhang
2
,
L Wang
1
Affiliations
1
Department of Pediatrics, Xi'an Daxing Hospital, Xi'an 710016, China.
2
Department of Pediatrics, Tangdu Hospital, Air Force Medical University, Xi'an 710038, China.
PMID:
36444441
DOI:
10.3760/cma.j.cn112140-20220617-00563
Abstract
患儿 女，3岁，因发现身材矮小、指甲发育异常2年就诊。临床表现为身材矮小，指、趾末端发育异常，眼距增宽，鼻梁低平，空泡蝶鞍，小脑扁桃体下疝畸形，颅底凹陷，脊髓空洞，双肾囊肿。.
Publication types
Case Reports
MeSH terms
Hajdu-Cheney Syndrome* / diagnosis
Hajdu-Cheney Syndrome* / genetics
Humans