Antenatal diagnosis of ectrodactyly with fibular aplasia – a case report

Abstract

Introduction. Split-hand or split-foot malformation associated with a fibula aplasia is a rare limb malformation; it results from failure of formation of parts of hands, feet or both due to a variable deficiency of central rays of the autopad. This anomaly can be isolated or associated with genetic or non-genetic syndromes. Routine examination of fetal hands and feet during second-trimester ultrasonography should make the detection of hand and foot malformations more frequent. Method. We report a case of familial non-syndromic form of ectrodactyly with aplasia of fibula because of its rarity, detected by ultrasonography. The anomaly was confirmed after birth and conservative orthopaedic management with further surgical reparation later was decided. Conclusion. Although it is rarely seen, limbs defects may be detected by detailed prenatal ultrasonography; however, the impact of these anomalies is assessed after birth, to choose the best option for the correction of the defect.