A Case of Crouzon's Syndrome with a True Human Tail.

Nobuhiro Ando, Nobuyuki Mitsukawa, Minoru Hayashi, Koichi Higaki, Yoshitaka Kubota
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Abstract

A human tail complicated by Crouzon syndrome is extremely rare, with only eight reported cases of human tails associated with Crouzon syndrome. A human tail is defined as a true human tail or a pseudo-human tail according to the presence or absence of the bone tissue. A 4-year-old boy had a true caudal sacral protrusion from birth and was also diagnosed with Crouzon syndrome. There were no neurological symptoms or vesico-rectal disturbances. The patient underwent a human tail resection at 4 years and 7 months. The postoperative course was uneventful, and there was no recurrence at 6 months postoperatively. Some reports suggested that Crouzon syndrome and the human tail are associated with FGFR2 gene mutation, but the details are currently unknown. Further genetic searches for cases of the combined human tail and Crouzon syndrome in the future are likely to reveal further associations.

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克鲁松综合征伴真人尾巴一例。
人类尾巴合并Crouzon综合征是极其罕见的,只有8例报告的人类尾巴与Crouzon综合征相关。根据骨组织的有无,将人的尾巴定义为真人的尾巴或假人的尾巴。一个4岁的男孩从出生开始就有一个真正的骶尾部突出,也被诊断为Crouzon综合征。没有神经系统症状或膀胱直肠紊乱。患者在4岁零7个月时接受了人类尾巴切除术。术后过程平稳,术后6个月无复发。一些报道认为,Crouzon综合征和人类尾巴与FGFR2基因突变有关,但细节目前尚不清楚。未来对人类尾巴和Crouzon综合征合并病例的进一步基因搜索可能会揭示进一步的关联。
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