A Turkish Female Twin Sister Patient with Fibular Aplasia, Congenital Tibia Pseudoarthrosis, Oligosyndactyly, and Negative WNT7A Gene Mutation

Hale Önder Yılmaz; Duran Topak; Orkun Yılmaz; Seda Çakmaklı

doi:10.1055/s-0038-1675837

A Turkish Female Twin Sister Patient with Fibular Aplasia, Congenital Tibia Pseudoarthrosis, Oligosyndactyly, and Negative WNT7A Gene Mutation

J Pediatr Genet. 2019 Jun;8(2):95-99. doi: 10.1055/s-0038-1675837. Epub 2018 Nov 18.

Authors

Hale Önder Yılmaz¹, Duran Topak², Orkun Yılmaz³, Seda Çakmaklı¹

Affiliations

¹ Department of Medical Genetics, Kahramanmaraş Necip Fazıl City Hospital, Merkez, Turkey.
² Department of Orthopedics and Traumatology, Kahramanmaraş Sütçü İmam University, Merkez, Turkey.
³ Department of Orthopedics and Traumatology, Kahramanmaraş Necip Fazıl City Hospital, Merkez, Turkey.

Abstract

We report a rare limb defect named as fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome in a female monozygotic twin with a normal twin sister, presented with anterior tibia pseudarthrosis, oligosyndactyly, and pes equinovarus. Radiographic examination displayed the absence of left fibulae, anterolateral pseudarthrosis of left tibia, and the absence of some metatarsus and phalangeal bones. Our case report is the first to report that only one of the identical twins was affected by FATCO syndrome, which is a significant finding because the pathogenicity of FATCO syndrome is yet to be identified, and this clinical case may provide a new insight for discovering the etiology of FATCO syndrome.

Keywords: FATCO; fibular aplasia; oligosyndactyly.

Publication types

Case Reports