FATCO syndrome

A rare, genetic, congenital limb malformation syndrome characterized by unilateral or bilateral fibular aplasia/hypoplasia, tibial campomelia, and lower limb oligosyndactyly involving the lateral rays. Upper limb oligosyndactyly and cleft lip/palate may also be associated.

Fibular aplasia

Absence of the fibula.


合計: 9

                      


(表示件数)
PMID (PMCID)
31061754
OTHER
A Turkish Female Twin Sister Patient with Fibular Aplasia, Congenital Tibia Pseudoarthrosis, Oligosyndactyly, and Negative WNT7A Gene Mutation.
Onder Ylmaz H, Topak D, Ylmaz O, Cakmakl S.
J Pediatr Genet. 2019;8(2):95-99.
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.
30151452
(6100663)
OTHER
A Female Newborn Infant with FATCO Syndrome Variant (Fibular Hypoplasia, Tibial Campomelia, Oligosyndactyly) - A Case Report.
Smets G, Vankan Y, Demeyere A.
J Belg Soc Radiol. 2016;100(1):41.
Fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO syndrome) are purely descriptive terms for a syndrome of unknown genetic basis and inheritance.
27164350
MALE Infant, Newborn
[A case report of a patient with FATCO syndrome: fibular aplasia, tibial campomelia and oligosyndactyly].
D'Amato Gutierrez M, Palacio Diaz FA.
Arch Argent Pediatr. 2016;114(3):e167-70.
[A case report of a patient with FATCO syndrome: fibular aplasia, tibial campomelia and oligosyndactyly].
25386471
OTHER
FATCO Syndrome Variant - Fibular Hypoplasia, Tibial Campomelia and Oligosyndactyly -- A Case Report.
Goyal N, Kaur R, Gupta M, Bhatty S, Paul R.
J Clin Diagn Res. 2014;8(9):LD01-2.
FATCO syndrome consisting of fibular aplasia, tibial campomelia and oligosyndactyly has been described in the literature but only one has been reported from India as per our literature review.
21965580
MALE Infant
A case report of fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome associated with Klinefelter syndrome and review of the literature.
Ekbote AV, Danda S.
Foot Ankle Spec. 2012;5(1):37-40.
A case report of fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome associated with Klinefelter syndrome and review of the literature.
21965580
MALE Infant
A case report of fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome associated with Klinefelter syndrome and review of the literature.
Ekbote AV, Danda S.
Foot Ankle Spec. 2012;5(1):37-40.
Fibular Aplasia, Tibial Campomelia and Oligosyndactyly (FATCO) syndrome (MIM#246570) is a syndrome of unknown genetic basis and inheritance with variable expressivity and penetrance.
20964118
MIXED_SAMPLE Infant, Newborn
A male newborn infant with fatco syndrome (fibular aplasia, tibial campomelia and oligodactyly): a case report.
Karaman A, Kahveci H.
Genet Couns. 2010;21(3):285-8.
We report a male infant with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO syndrome).
23926365
(3687608)
OTHER
A Japanese male patient with 'fibular aplasia, tibial campomelia and oligodactyly': an additional case report.
Kitaoka T, Namba N, Kim JY, Kubota T, Miura K, Miyoshi Y, Hirai H, Kogo M, Ozono K.
Clin Pediatr Endocrinol. 2009;18(3):81-6.
We report a male infant with FATCO syndrome, an acronym for fibular aplasia, tibial campomelia, and oligosyndactyly.
15754355
MALE Infant, Newborn
Fibular aplasia, tibial campomelia, and oligosyndactyly in a male newborn infant: a case report and review of the literature.
Courtens W, Jespers A, Harrewijn I, Puylaert D, Vanhoenacker F.
Am J Med Genet A. 2005;134(3):321-5.
Therefore, we propose to name it fibular aplasia-tibial campomelia-oligosyndactyly (FATCO) syndrome.