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Background: Fibular hemimelia is the most common congenital long-bone deficiency. It is usually unilateral and results in a limb-length discrepancy. The literature generally subscribes to the concept of constant inhibition, a process by which limb-length ratios between the shorter and longer extremity remain constant throughout growth, but scientific data supporting this concept are sparse. Additionally, recent literature suggests that these children have abnormal skeletal maturation.Objective: To elucidate the lower-extremity long-bone growth patterns and skeletal maturation of children with unilateral fibular hemimelia.Materials and Methods: We reviewed medical records of children with unilateral fibular hemimelia seen at a large pediatric hospital over a 17-year period. Inclusion criteria were: at least two scanograms prior to any shortening/lengthening procedure, and no other congenital or acquired disorders. We collected the study cohort's femoral and tibial lengths (scanogram reports), plotted them against patient chronological ages and compared them to published growth standards. When these children's bone ages (Greulich and Pyle) were available, we plotted them against the children's chronological ages.Results: Twenty-three children were included (total=115 scanograms). At least 1 bone-age assessment was performed in 19 children (total=84 bone ages). All bone growth curves were within normal growth standards for the femur and tibia. Length ratios between shorter and longer limbs remained constant. Skeletal maturation was within two standard deviations of normal in 90% of bone ages.Conclusion: Lower-extremity long bones of children with unilateral fibular hemimelia have relatively normal growth curves, supporting and confirming the concept of constant inhibition. Most children show normal skeletal maturation. [ABSTRACT FROM AUTHOR]

Background: The classic metaphyseal lesion (CML) is strongly associated with infant abuse, but the biomechanics responsible for this injury have not been rigorously studied. Radiologic and CT-pathological correlates show that the distal tibial CML always involves the cortex near the subperiosteal bone collar, with variable extension of the fracture into the medullary cavity. Therefore, it is reasonable to assume that the primary site of bone failure is cortical, rather than intramedullary.Objective: This study focuses on the strain patterns generated from finite element modeling to identify loading scenarios and regions of the cortex that are susceptible to bone failure.Materials and Methods: A geometric model was constructed from a normal 3-month-old infant's distal tibia and fibula. The model's boundary conditions were set to mimic forceful manipulation of the ankle with eight load modalities (tension, compression, internal rotation, external rotation, dorsiflexion, plantar flexion, valgus bending and varus bending).Results: For all modalities except internal and external rotation, simulations showed increased cortical strains near the subperiosteal bone collar. Tension generated the largest magnitude of cortical strain (24%) that was uniformly distributed near the subperiosteal bone collar. Compression generated the same distribution of strain but to a lesser magnitude overall (15%). Dorsiflexion and plantar flexion generated high (22%) and moderate (14%) localized cortical strains, respectively, near the subperiosteal bone collar. Lower cortical strains resulted from valgus bending, varus bending, internal rotation and external rotation (8-10%). The highest valgus and varus bending cortical strains occurred medially.Conclusion: These simulations suggest that the likelihood of the initial cortical bone failure of the CML is higher along the margin of the subperiosteal bone collar when the ankle is under tension, compression, valgus bending, varus bending, dorsiflexion and plantar flexion, but not under internal and external rotation. Focal cortical strains along the medial margins of the subperiosteal bone collar with varus and valgus bending may explain the known tendency for focal distal tibial CMLs to occur medially. Further research is needed to determine the threshold of applied forces required to produce this strong indicator of infant abuse. [ABSTRACT FROM AUTHOR]

Proximal focal femoral deficiency (PFFD) is a heterogeneous disorder characterized by various degrees of femoral deficiencies and associated anomalies of the pelvis and lower limbs. The etiology of the disease has not been determined. We report on a 3-year-old boy with severe PFFD, who showed almost completely absent femora and fibulae, malformed pelvis and ectrodactyly of the left foot. These features were partially overlapped with those of Al-Awadi-Raas-Rothschild syndrome or Fuhrmann syndrome, both of which are caused by WNT7A mutations. Molecular analysis of our case, however, demonstrated no disease-causing mutations in the WNT7A gene.

The article offers information on the case of a one-year-old boy who was diagnosed with isolated congenital pseudarthrosis of the fibula and fibrous dysplasia, wherein a pseudarthrosis at the distal fibula was showed using plain radiographs.

Six patients who presented with craniofacial anomalies, musculoskeletal anomalies including elongated and bowed (serpentine) fibulae, and polycystic kidneys are reported. This association of anomalies is referred to as serpentine fibula polycystic kidney syndrome (SFPKS) and is currently interpreted as a manifestation of Hajdu-Cheney syndrome (HCS). We report a new instance of this association of anomalies and review the clinical and radiographic features of HCS and of the reported cases of SFPKS.

The distinctive radiographic features - megaepiphyses, hypoplastic fibulae, ulnar pseudoepiphyses and brachymesophalangy - in a 14-year-old Japanese boy with mental retardation are reported.

Fibular agenesis/hypoplasia is the most common reduction malformation affecting the long bones. Agenesis of both the fibulae, however, is rare, and its occurrence in four consecutive pregnancies has not been reported so far. We report our experience with one such case.