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A case report of WANG Su-mei:Chinese herbal medicine Fugui Yizhi Decoction in the treatment of Xia-Gibbs syndrome
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- Author:
- No author available
- Journal Title:
- Beijing Journal of Traditional Chinese Medicine
- Issue:
- 12
- DOI:
- 10.16025/j.1674-1307.2023.12.030
- Key Word:
- 五迟;附桂益智汤;Xia-Gibbs综合征;全面发育迟缓;王素梅
Abstract： Xia-Gibbs 综合征(Xia-Gibbs syndrome,XGS)是2014年由Xia等[1]首先报道,并由此命名的一种常染色体显性遗传的发育障碍性疾病.该报道的4例患者临床表现以全面发育迟缓、肌张力低下、特殊面容、阻塞性睡眠呼吸暂停为主,其特殊面容为头颅形态异常、眼距过宽、睑裂下斜或上斜、眼睑下垂、鼻梁低平、招风耳、耳位低、上唇薄、小下颌、手指或足趾短、断掌,足外翻或内翻、弓形足等,且均存在AHDC1基因外显子上的剪切变异[2].
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