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一名患有“腓骨发育不全、胫骨弯曲和多指畸形”的日本男性患者:另一例病例报告。

A Japanese male patient with 'fibular aplasia, tibial campomelia and oligodactyly': an additional case report.

作者信息

Kitaoka Taichi, Namba Noriyuki, Kim Ji Yoo, Kubota Takuo, Miura Kohji, Miyoshi Yoko, Hirai Haruhiko, Kogo Mikihiko, Ozono Keiichi

机构信息

Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan.

出版信息

Clin Pediatr Endocrinol. 2009 Jul;18(3):81-6. doi: 10.1297/cpe.18.81. Epub 2009 Aug 1.

Abstract

We report a male infant with FATCO syndrome, an acronym for fibular aplasia, tibial campomelia, and oligosyndactyly. Courtens et al. reported an infant with oligosyndactyly of the left hand, complete absence of the right fibula, bowing of the right tibia, and absence of the right fifth metatarsal and phalanges. They noted 5 patients with similar clinical features, and proposed the FATCO syndrome. Our patient had a left-sided cleft lip, cleft palate, oligosyndactyly of the right hand and bilateral feet, and bilateral anterior bowing of the limbs associated with overlying skin dimpling. Radiographs showed a short angulated tibia with left fibular aplasia and right fibular hypoplasia. We consider our case the 6th patient with FATCO syndrome, and the cleft lip and palate, not reported in the previous 5 patients, may allow us to further understand the development of the extremities and facies.

摘要

我们报告了一名患有FATCO综合征的男婴,FATCO综合征是腓骨发育不全、胫骨弓形弯曲和少指(趾)畸形的首字母缩写。库尔滕斯等人报告了一名左手少指(趾)畸形、右侧腓骨完全缺如、右侧胫骨弓形弯曲以及右侧第五跖骨和趾骨缺如的婴儿。他们注意到5例具有相似临床特征的患者,并提出了FATCO综合征。我们的患者有左侧唇裂、腭裂、右手和双足少指(趾)畸形,以及双侧肢体前部弓形弯曲并伴有上方皮肤凹陷。X线片显示左侧腓骨发育不全、右侧腓骨发育不良,胫骨短且成角。我们认为我们的病例是第6例FATCO综合征患者,而之前5例患者未报告的唇裂和腭裂可能有助于我们进一步了解四肢和面部的发育情况。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a4c6/3687608/07b9cc2f8bfe/cpe-18-081-g001.jpg

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