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[一例患有FATCO综合征患者的病例报告:腓骨发育不全、胫骨弯曲和少指(趾)畸形]

[A case report of a patient with FATCO syndrome: fibular aplasia, tibial campomelia and oligosyndactyly].

作者信息

D'Amato Gutiérrez Mónica, Palacio Díaz Felipe A

机构信息

Residente de Pediatría. Universidad Pontificia Bolivariana, Medellín, Colombia.

Clínica Universitaria Bolivariana, Universidad Pontificia Bolivariana, Medellín, Colombia.

出版信息

Arch Argent Pediatr. 2016 Jun 1;114(3):e167-70. doi: 10.5546/aap.2016.e167.

Abstract

The FATCO syndrome, (Fibular Aplasia, Tibial Campomelia and Oligosyndactyly) are bone malformations with main alteration in lower limbs. It is a rare entity and there are few cases reported in international literature, and so far there are not published cases in Colombia. Here we present a case of a male newborn with prenatal and postnatal signs consistent with FATCO syndrome without other organs malformations, and there is a brief discussion about this syndrome and other different malformations associated with it.

摘要

FATCO综合征(腓骨发育不全、胫骨弓形腿和少指畸形)是一种主要累及下肢的骨骼畸形。它是一种罕见的病症,国际文献中报道的病例很少,迄今为止哥伦比亚尚无相关病例发表。在此,我们报告一例男性新生儿,其产前和产后体征符合FATCO综合征,无其他器官畸形,并对该综合征及其相关的其他不同畸形进行简要讨论。

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