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

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Authors: Igoche Peter and Habila Umaru
Date: Jan-April 2020
From: Journal of the Practice of Cardiovascular Sciences(Vol. 6, Issue 1)
Publisher: Medknow Publications and Media Pvt. Ltd.
Document Type: Article
Length: 1,209 words

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Byline: Igoche. Peter, Habila. Umaru

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?


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

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,...

Source Citation

Source Citation
Peter, Igoche, and Habila Umaru. "Fibular aplasia-tibial campomelia-oligodactyly syndrome phenotype wclar septal defect in an African Child." Journal of the Practice of Cardiovascular Sciences, vol. 6, no. 1, Jan.-Apr. 2020, p. 68. Accessed 29 Nov. 2022.

Gale Document Number: GALE|A621880591