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Summary: A male newborn infant with FATCO syndrome (fibular aplasia, tibial campomelia and oligodactyly) : a case report: We report a male infant with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO syndrome). Radiographs showed a short angulated left tibia with fibular aplasia and ipsilateral oligodactyly. We consider our case the 7th patient with FATCO syndrome.
Key-words: Fibular aplasia - Tibial campomelia - Oligosyndactyly.
INTRODUCTION
Fibular aplasia is a rare malformation, although the fibula is the most common long bone associated with congenital absence (1, 6). Most cases of fibular aplasia are isolated and sporadic events, which implies that the majority is caused by nongenetic and teratogenic insults. However, fibular aplasia can be a part of a malformation syndrome when associated with focal deficiency of the proximal femur and distal digital and/or toe anomalies. In addition, fibular aplasia is sometimes associated with shortness or deformity of the extremities as well as growth retardation (9). As hand and foot malformations, split-hand/foot malformation is common and has a birth prevalence of 1 in 18,000 (2). In split-hand/foot malformation with long bone deficiency, the tibia is often missing, but the fibula is rarely involved.
Recent studies have unraveled the major molecular components that coordinate limb outgrowth along three axes (7). The proximodistal axis is under the control of fibroblast growth factors (FGFs) from the apical ectoderma! ridge (AER). The anteroposterior axis is under the control of sonic hedgehog (SHH) from the posterior mesenchyme (zone of polarizing...