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一例与手足裂缺并长骨缺损综合征(SHFLD)相关的腓骨发育不全-胫骨弯曲-少指/趾畸形(FATCO)综合征及文献复习

A Case of Fibular Aplasia-Tibial Campomelia-Oligosyndactyly (FATCO) Syndrome Associated With Split Hand/Foot Syndrome With Long Bone Deficiency (SHFLD) and Review of the Literature.

作者信息

Deftereou Theodora-Eleftheria, Karapepera Vaya R, Alexiadi Christina Angelika, Tologkos Stylianos, Papadatou Vasiliki, Alexiadis Georgios, Karamanidis Dimitrios, Maria Lambropoulou

机构信息

Laboratory of Histology-Embryology, Democritus University of Thrace, Alexandroupolis, GRC.

ENT Clinic, General Hospital of Ioannina "G. Hatzikosta", Ioannnina, GRC.

出版信息

Cureus. 2024 Jul 22;16(7):e65162. doi: 10.7759/cureus.65162. eCollection 2024 Jul.

Abstract

Split hand/foot malformation is a heterogeneous congenital disorder mainly presented with a median cleft of hands or/and feet. It can be associated with long bone aplasia, a syndrome also known as split hand/foot syndrome with long bone deficiency (SHFLD), which is a very rare condition. We report a very rare case of a male fetus with SHFLD syndrome combined with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome. FATCO syndrome is also an extremely infrequent congenital limb defect by itself. Based on our review of the literature, there appears to be no other FATCO case reported in Greece.

摘要

裂手/裂足畸形是一种异质性先天性疾病,主要表现为手部或/和足部的正中裂。它可能与长骨发育不全相关,这种综合征也被称为伴有长骨缺陷的裂手/裂足综合征(SHFLD),是一种非常罕见的病症。我们报告了一例极为罕见的男性胎儿病例,其患有SHFLD综合征并合并腓骨发育不全、胫骨弯曲和少指(趾)畸形(FATCO)综合征。FATCO综合征本身也是一种极其罕见的先天性肢体缺陷。根据我们对文献的回顾,希腊似乎没有其他FATCO病例的报道。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4b61/11339580/9633f159460e/cureus-0016-00000065162-i01.jpg

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