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

Overview

Journal Cureus

Specialty Biomedical Engineering

Date 2024 Aug 23

PMID 39176338

Authors

Theodora-Eleftheria Deftereou

Vaya R Karapepera

Christina Angelika Alexiadi

Stylianos Tologkos

Vasiliki Papadatou

Georgios Alexiadis

Dimitrios Karamanidis

Lambropoulou Maria

Affiliations

Soon will be listed here.

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.

References

Al Kaissi A, Ganger R, Rotzer K, Klaushofer K, Grill F . A child with split-hand/foot associated with tibial hemimelia (SHFLD syndrome) and thrombocytopenia maps to chromosome region 17p13.3. Am J Med Genet A. 2014; 164A(9):2338-43. DOI: 10.1002/ajmg.a.36614. View

Klopocki E, Lohan S, Doelken S, Stricker S, Ockeloen C, Soares Thiele de Aguiar R . Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. J Med Genet. 2011; 49(2):119-25. DOI: 10.1136/jmedgenet-2011-100409. View

Monteagudo A, Dong R, Timor-Tritsch I . Fetal fibular hemimelia: case report and review of the literature. J Ultrasound Med. 2006; 25(4):533-7. DOI: 10.7863/jum.2006.25.4.533. View

Abdalla E, El-Beheiry A . Overlap between Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly and Fuhrmann's Syndromes in an Egyptian Female Infant. J Pediatr Genet. 2017; 6(2):118-121. PMC: 5423804. DOI: 10.1055/s-0036-1597931. View

Karaman A, Kahveci H . A male newborn infant with fatco syndrome (fibular aplasia, tibial campomelia and oligodactyly): a case report. Genet Couns. 2010; 21(3):285-8. View

Ruaud L, Flottmann R, Spielmann M, Escande F, Van Maldergem L, Mundlos S . Split hand/foot malformation associated with 20p12.1 deletion: A case report. Eur J Med Genet. 2019; 63(4):103805. DOI: 10.1016/j.ejmg.2019.103805. View

Celik O, Gultekin Calik M, Keles A, Tos T, Yucel A, Sahin D . Prenatal differential diagnosis of fibular agenesis, tibial campomelia and oligosyndactyly. Clin Dysmorphol. 2021; 30(3):147-149. DOI: 10.1097/MCD.0000000000000366. View

Isik E, Atik T, Ozkinay F . The first report of fibular agenesis, tibial campomelia, and oligosyndactyly syndrome with hydrocephaly. Clin Dysmorphol. 2018; 28(1):38-40. DOI: 10.1097/MCD.0000000000000247. View

Kantaputra P, Carlson B . Genetic regulatory pathways of split-hand/foot malformation. Clin Genet. 2018; 95(1):132-139. DOI: 10.1111/cge.13434. View

10.

Izadi M, Salehnia N . Prenatal Diagnosis of FATCO Syndrome (Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly) with 2D/3D Ultrasonography. Ultrasound Int Open. 2020; 6(2):E44-E47. PMC: 7561469. DOI: 10.1055/a-1225-4388. View

11.

Huber J, Volpon J, Ramos E . Fuhrmann syndrome: two Brazilian cases. Clin Dysmorphol. 2003; 12(2):85-8. DOI: 10.1097/00019605-200304000-00002. View

12.

Ekbote A, Danda S . A case report of fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome associated with Klinefelter syndrome and review of the literature. Foot Ankle Spec. 2011; 5(1):37-40. DOI: 10.1177/1938640011422594. View

13.

Marinho M, Nunes S, Lourenco C, Melo M, Godinho C, Nogueira R . Prenatal diagnosis of fibular aplasia-tibial campomelia-oligosyndactyly syndrome: Two case reports and review of the literature. J Clin Ultrasound. 2020; 49(6):625-629. DOI: 10.1002/jcu.22969. View

14.

Hashmi H, Shamim N, Kumar V, Mirza A, Kirmani S, Irfan B . A case report on fibular aplasia, tibial campomelia, oligosyndactyly syndrome variant in a male infant. J Pak Med Assoc. 2022; 72(5):975-977. DOI: 10.47391/JPMA.3793. View

15.

Onder Yilmaz H, Topak D, Yilmaz O, Cakmakli S . A Turkish Female Twin Sister Patient with Fibular Aplasia, Congenital Tibia Pseudoarthrosis, Oligosyndactyly, and Negative Gene Mutation. J Pediatr Genet. 2019; 8(2):95-99. PMC: 6499614. DOI: 10.1055/s-0038-1675837. View

16.

Vyskocil V, Dortova E, Dort J, Chudacek Z . FATCO syndrome--fibular aplasia, tibial campomelia and oligosyndactyly. Joint Bone Spine. 2010; 78(2):217-8. DOI: 10.1016/j.jbspin.2010.08.013. View

17.

Bieganski T, Jamsheer A, Sowinska A, Baranska D, Niedzielski K, Kozlowski K . Three new patients with FATCO: fibular agenesis with ectrodactyly. Am J Med Genet A. 2012; 158A(7):1542-50. DOI: 10.1002/ajmg.a.35369. View

18.

Georgeos M, Elgzzar D . Newborn Male With Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome: A New Case Report Putting the Condition Under Spotlight. Cureus. 2022; 14(1):e21702. PMC: 8882373. DOI: 10.7759/cureus.21702. View

19.

Sezer O, Gebesoglu I, Yuan B, Karaca E, Gokce E, Gunes S . Fibular aplasia, tibial campomelia, and oligosyndactyly: a further patient with a 2-year follow-up. Clin Dysmorphol. 2014; 23(4):121-6. DOI: 10.1097/MCD.0000000000000051. View

20.

Umair M, Hayat A . Nonsyndromic Split-Hand/Foot Malformation: Recent Classification. Mol Syndromol. 2020; 10(5):243-254. PMC: 6997797. DOI: 10.1159/000502784. View