Fibular Hemimelia

► [Longitudinal deficiency of the fibula]

Fibular deficiency is a common congenital defect that can occur as a single defect or as part of any of a number of syndromic and nonsyndromic conditions. Therefore, fibular hypoplasia/aplasia alone is not of much help in the recognition of specific disorders. Fibular deficiencies may be uni- or bilaterally distributed and can vary in severity from mild hy-poplasia to aplasia (Reed 1992; Grogan et al. 1987; Achterman and Kalamchi 1979; Jansen and Andersen 1974). Varying degrees of shortening and bowing of the companion tibia with limb length discrepancy often coexist, depending on the severity of the fibular defect (Fordham et al. 1999). When the fibula is absent, shortening and ventromedial bowing of the tibia are common. Distal and proximal deficiencies are encountered. Distal fibular hypoplasia is more commonly associated with valgus deformity of the ankle, whereas proximal deficiency more often occurs in association with valgus deformity of the knee and instability at the proximal tibiofibular articulation (Ogden 1984). Several other abnormalities can occur in association with fibular hypoplasia/aplasia, including proximal femoral focal deficiency, femoral hypoplasia, coxa vara, ball-and-socket ankle joint, equinovalgus deformity of the foot, tarsal coalition, and deficiency of the lateral tarsal bones and lateral rays in the foot (Maffulli and Fixsen 1991) (Fig. 5.34a,b).

The association of fibular aplasia/hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly, has been termed Fuhrmann syndrome (OMIM 228930) (Fuhrmann et al. 1980). Pelvic hypoplasia, congenital hip dislocation, and absence or coalescence of the tarsal bones are additional findings. A peculiar constellation of abnormalities, sharing similarities with the syndromes of Fuhrmann and Al-Awadi/Raas-

Fig. 5.34 a, b. Fibular hemime-lia. a In a 7-year-old boy: complete absence of the right fibula, with tibial shortening, and severe equinovalgus deformity of the foot. b In a 4-year-old boy: fibular aplasia, tibial hy-poplasia, valgus deformity of the ankle joint, and deficiency of the lateral tarsal bones and lateral rays in the foot

Fig. 5.34 a, b. Fibular hemime-lia. a In a 7-year-old boy: complete absence of the right fibula, with tibial shortening, and severe equinovalgus deformity of the foot. b In a 4-year-old boy: fibular aplasia, tibial hy-poplasia, valgus deformity of the ankle joint, and deficiency of the lateral tarsal bones and lateral rays in the foot

Fibular Hemimelia

Rothschild (OMIM 276820), includes aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits and nails (OMIM 601849) (Kumar et al. 1997). The femur-fibula-ulna syndrome (FFU complex, OMIM 228200) is a malformation complex in which fibular, femoral, and ulnar deficiencies tend to be associated (Kuhne et al. 1967). Overlap is recognized with the Fuhrmann syndrome, the Al-Awadi/Raas-Roth-schild syndrome, and the malformation spectrum of "aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits and nails" mentioned above. Fibular agenesis, together with radial shortening and coalescence of the tarsal bones, has been reported in a girl with oro-facio-digital syndrome, type I (OMIM 311200) (Figuera et al. 1993), in which typical features are telecanthus, flat nasal bridge, retrognathia, cleft palate, oligodactyly, and preaxial polydactyly.

Fibular aplasia with craniosynostosis (OMIM 218550) is a well-recognized association (Lowry 1972). A wider spectrum of anomalies also includes radial defects and cleft lip/palate (Ladda et al. 1978). Fibular aplasia and brachydactyly is another well-established association. Brachydactyly can either be complex (Du Pan syndrome, OMIM 228900), consisting of meta-carpal shortening, trapezoid middle phalanx of the index finger with radial deviation, small carpals, short and laterally deviated toes, and tibiotarsal dislocation (Ahmad et al. 1990), or a combination of brachydactyly in the hands and ectrodactyly (split deformity) in the feet (OMIM 113310) (Genuardi et al. 1990). A unique combination of brachydactyly, severely delayed bone maturation, spinal and pelvic abnormalities, short stature, and bilateral fibular hypoplasia has been reported (Castriota-Scanderbeg et al. 1999). Another combination of anomalies involves extremely short digits with hypoplasia/aplasia of proximal and middle phalanges in the fingers and toes, short stature, bilateral deficiency of fibulas, and normal intelligence (Kohn et al. 1989).

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