J Pediatr Genet 2019; 08(02): 095-099
DOI: 10.1055/s-0038-1675837
Case Report
Georg Thieme Verlag KG Stuttgart · New York

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

Hale Önder Yılmaz
1  Department of Medical Genetics, Kahramanmaraş Necip Fazıl City Hospital, Merkez, Turkey
,
Duran Topak
2  Department of Orthopedics and Traumatology, Kahramanmaraş Sütçü İmam University, Merkez, Turkey
,
Orkun Yılmaz
3  Department of Orthopedics and Traumatology, Kahramanmaraş Necip Fazıl City Hospital, Merkez, Turkey
,
Seda Çakmaklı
1  Department of Medical Genetics, Kahramanmaraş Necip Fazıl City Hospital, Merkez, Turkey
› Author Affiliations
Further Information

Publication History

02 July 2018

11 October 2018

Publication Date:
18 November 2018 (eFirst)

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.