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Year : 2020  |  Volume : 6  |  Issue : 1  |  Page : 68-70

Fibular aplasia-tibial campomelia-oligodactyly syndrome phenotype wclar septal defect in an African Child

1 Paediatric Cardiology Division, The Limi Children's Hospital, Abuja, Nigeria
2 Orthopaedic Surgery Unit, National Hospital Abuja/The Limi Multispecialty Hospital, Abuja, Nigeria

Date of Submission05-Dec-2019
Date of Decision05-Feb-2020
Date of Acceptance29-Jan-2020
Date of Web Publication17-Apr-2020

Correspondence Address:
Igoche David Peter
Paediatric Cardiology Division, The Limi Children's Hospital, Wuse 2, Abuja
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jpcs.jpcs_78_19

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This is a report of a 3yearold girl with findings of FATCO (fibular aplasia-tibial campomelia-oligodactyly) syndrome associated with ventricular septal defect. This is the first ever FATCO syndrome report in an African child to the best of the authors' knowledge. Association of the rare FATCO syndrome with cardiac defects is a rather rarer finding in medical literature. Does this combination of rarities suggest an emerging genetic syndrome?

Keywords: Fibular aplasia, fibular aplasia-tibial campomelia-oligodactyly syndrome, oligodactyly, tibial campomelia, ventricular septal defect

How to cite this article:
Peter ID, Umaru H. Fibular aplasia-tibial campomelia-oligodactyly syndrome phenotype wclar septal defect in an African Child. J Pract Cardiovasc Sci 2020;6:68-70

How to cite this URL:
Peter ID, Umaru H. Fibular aplasia-tibial campomelia-oligodactyly syndrome phenotype wclar septal defect in an African Child. J Pract Cardiovasc Sci [serial online] 2020 [cited 2021 Dec 1];6:68-70. Available from: https://www.j-pcs.org/text.asp?2020/6/1/68/282815

  Introduction Top

FATCO syndrome is a rare congenital limb malformation syndrome with an estimated incidence of 5.7–20 cases per a million births.[1] It is characterized by unilateral or bilateral fibular aplasia/hypoplasia, tibial campomelia, and lower limb oligosyndactyly involving the lateral rays.[2],[3],[4] It could also present with shortening of femur and tibia, talipes equinovarus, valgus deformity, flexion contracture, anteroposterior instability of the knee and ankle, tarsal coalition, and deficiency of the lateral rays of the foot.[5],[6] Its etiology has remained speculative, probably sporadic, as a majority are secondary to nongenetic insults e.g., teratogens and radiation.[2]

Grech and Gatt[7] found that the most common noncardiac anomalies associated with congenital heart disease in their Maltese cohort were musculoskeletal anomalies but none of these were reported to have FATCO syndrome. The association of FATCO with heart defects is rare,[8],[9] and this has remained yet unreported in an African child to the best of the author's knowledge.

  Case Report Top

A 3-year-old girl was referred to our pediatric cardiology clinic following auscultation of a systolic murmur by a general practitioner. She had normal volume peripheral pulses, normal pulse rate and blood pressure. Apex beat was at the 4th left intercostal space, midclavicular line. The 1st and 2nd heart sounds were normal and she had a Grade 3 pansystolic murmur maximal at the lower left sternal edge. Furthermore, pertinent musculoskeletal system examination revealed a short limb (dipping) gait, left genu valgum, calcaneo-valgum, and general hypoplasia of the affected limb with compensatory flexion of the right knee and hip [Figure 1]. She had limb length discrepancy of 10 cm, anterior bowing of the left leg and presence of only four digits on the same foot [Figure 2]. She had chest radiograph which was normal. Transthoracic echocardiography revealed a 7 mm inlet ventricular septal defect (VSD) with perimembranous extension with left-to-right shunt [Figure 3] and [Figure 4], Vmax= 4.16 m/s, and shunt gradient of 69.32 mmHg. She had normal left ventricular ejection fraction of 67% (Teicholtz), tricuspid annular plane systolic excursion of 19 mm, and a normal left ventricular diastolic function. Radiograph of the lower limb revealed complete absence of the left fibula, angulation at the mid diaphysis of tibia, and absence of a metacarpal and a digit (a ray) on the left foot [Figure 5] and [Figure 6]. With a combination of the absence of left fibula, shortened and abnormally angulated left tibia, and only four left foot digits, a diagnosis of FATCO (fibular aplasia-tibial campomelia-oligodactyly) syndrome associated with a VSD was made. She is being worked up for a closure of the cardiac defect and correction of lower limb defects by both the cardiac and orthopedic teams.
Figure 1: Erect posture.

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Figure 2: Supine posture.

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Figure 3: Apical four-chamber view of ventricular septal defect.

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Figure 4: Parasternal long-axis view of ventricular septal defect.

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Figure 5: Radiograph of the left leg.

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Figure 6: Radiograph of the left foot.

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  Discussion Top

The index patient had phenotypic features in tandem with FATCO syndrome. Whereas chromosomal microarray analysis is not readily available at our center as at the time of this report, previous authors have noted that its genetic basis and inheritance is unknown.[6],[8] A link between FATCO syndrome and WNT7A as potentially implicated gene has been ruled out.[10],[11] No teratogenic insults were elucidated from the perinatal history of this patient, parents were nonconsanguineous, and younger sibling had no dysmorphology, suggesting a sporadic occurrence. Previous reports[8] have suggested a male predilection with male:female of 4:1 interestingly; however, the present case is an occurrence in a female.

Association of FATCO syndrome with cardiac defects has been rarely reported.[8],[9] Bieganski et al.[8] in Poland reported an isolated membranous VSD which closed spontaneously before age 3 years in a girl with FATCO syndrome. The present report is similar to theirs in terms of gender and site of VSD; however, the index patient still had a 7 mm VSD at age 3 years when theirs had spontaneously closed at that age.

Management of this case is multidisciplinary including the obstetricians for prenatal diagnosis, the pediatric cardiologist for the cardiac lesion, and orthopedic surgeon for correction of limb malformation.

  Conclusion Top

The current report draws attention to the existence of this rare syndrome in Africa. Unfortunately, skill for/practice of fetal anomaly scan including fetal echocardiography which will aid in early diagnosis/prompt treatment is grossly undeveloped in our environment. A high index of suspicion will be invaluable in identifying this syndrome.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Ethics clearance

As per institute's guidelines, ethical clearance not required for image reports. However the authors certify that they have obtained all appropriate patient consent. The patient understand that his/her name and initials will not be published and due efforts will be made to conceal his/her identity, but anonymity cannot be guaranteed.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Geipel A, Berg C, Germer U, Krokowski M, Smrcek J, Gembruch U. Prenatal diagnosis of femur-fibula-ulna complex by ultrasound examination at 20 weeks of gestation. Ultrasound Obstet Gynecol 2003;22:79-81.  Back to cited text no. 1
Courtens W, Jespers A, Harrewijn I, Puylaert D, Vanhoenacker F. Fibular aplasia, tibial campomelia, and oligosyndactyly in a male newborn infant: A case report and review of the literature. Am J Med Genet A 2005;134:321-5.  Back to cited text no. 2
Ahmad K, Ahmad Malla H, Dawood S. FATCO syndrome (fibular aplasia, tibial campomelia, oligosyndactyly with talar aplasia). A case study. Ortop Traumatol Rehabil 2017;19:75-8.  Back to cited text no. 3
Nogueira R, Sa J, Varela C, Amorim G, Valente F, Tavares P. Four FATCO syndrome cases: Clinical, autopsy and placental features with literature review update. J Med Biomed Appl Sci 2016;4:20-5.  Back to cited text no. 4
Stevens PM, Arms D. Postaxial hypoplasia of the lower extremity. J Pediatr Orthop 2000;20:166-72.  Back to cited text no. 5
Smets G, Vankan Y, Demeyere A. A female newborn infant with fatco syndrome variant (fibular hypoplasia, tibial campomelia, oligosyndactyly) – A case report. J Belg Soc Radiol 2016;100:1-4.  Back to cited text no. 6
Grech V, Gatt M. Syndromes and malformations associated with congenital heart disease in a population-based study. Int J Cardiol 1999;68:151-6.  Back to cited text no. 7
Bieganski T, Jamsheer A, Sowinska A, Baranska D, Niedzielski K, Kozlowski K, et al. Three new patients with FATCO: Fibular agenesis with ectrodactyly. Am J Med Genet A 2012;158A:1542-50.  Back to cited text no. 8
Ozgun MT, Kutuk MS, Akgun H, Uludag S, Dolanbay M, Basbug M. P11.11: Prenatal diagnosis of fibular aplasia, tibial campomelia and oligosyndactyly (facto) syndrome. Ultrasound Obstet Gynecol 2014;44:245-6.  Back to cited text no. 9
Karaman A, Kahveci H. A male newborn infant with FACTO syndrome (fibular aplasia, tibial campomelia and oligodactyly): A case report. Genet Counse 2010;21:285-8.  Back to cited text no. 10
Kitaoka T, Namba N, Kim JY, Kubota T, Miura K, Miyoshi Y, et al. A Japanese male patient with 'fibular aplasia, tibial campomelia and oligodactyly': An additional case report. Clin Pediatr Endocrinol 2009;18:81-6.  Back to cited text no. 11


  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]


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