Congenital Absence of the Fibula

Thompson, T. Campbell; Straub, Lee Ramsay; Arnold, W. David

doi:10.2106/00004623-195739060-00001

Cited by 44 publications

(26 citation statements)

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“…There are two suggested theories about the etiology of the ball and socket ankle joint. The first theory suggests a congenital origin [27] and the second an acquired deformity secondary to a stiff hindfoot [10,14]. It is not clear whether tarsal coalition predisposes to ball and socket ankle or whether ball and socket ankle joint is a distinct congenital anomaly associated with fibular hemimelia.…”

Section: Discussionmentioning

confidence: 99%

Limb length discrepancy and congenital limb anomalies in fibular hemimelia

Rodriguez-Ramirez

Thacker

Becerra

et al. 2010

Journal of Pediatric Orthopaedics B

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The aim of this study was to determine the prevalence of ipsilateral congenital musculoskeletal anomalies associated with fibular hemimelia. We also attempted to determine the corelation between the eventual limb length discrepancy at maturity and these associated anomalies, as well as the Achterman-Kalamchi class of these patients. The records and roentgenograms of 45 patients with fibular hemimelia were reviewed retrospectively. All patients were classified into three groups (types I-A, I-B, and II) according to the Achterman-Kalamchi system. The prevalence of congenital limb anomalies, lower extremity discrepancy percentage, and ultimate limb length discrepancy at skeletal maturity were evaluated. There was no significant statistical association between the number of congenital limb anomalies and severity of the limb length discrepancy, but patients included in the mildly affected group (type I-A) had a higher average prevalence of congenital limb anomalies than those classified as types I-B and II. There was a substantial correlation between congenital short femur as well as the Achterman-Kalamchi classification system and the predicted limb length discrepancy. A similar percentage of limb length discrepancy in types I-B and II was seen. In conclusion, the numbers of associated congenital limb anomalies are not predictive of the eventual limb length discrepancy. Presence of a congenital short femur and ball and socket ankle are predictive of a higher limb length discrepancy. Achterman-Kalamchi types I-B and II show a similar percentage of limb length discrepancy and this is significantly higher than that seen in type I-A.

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Section: Discussionmentioning

confidence: 99%

Limb length discrepancy and congenital limb anomalies in fibular hemimelia

Rodriguez-Ramirez

Thacker

Becerra

et al. 2010

Journal of Pediatric Orthopaedics B

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“…Eight of these are reviewed briefly (Table I) [Haudek, 1896;Coventry and Johnson, 1952;Thompson et al, 1957;Farmer and Laurin, 1960;Pappas et al, 1972;Jansen and Andersen, 1974;Bohne and Root, 1977;Achterman and Kalamchi, 19791. Methods of ascertainment and reasons for selection of reporting in most series (especially the older ones) are unknown, so our generalizations probably do not refer to an unbiased population of individuals with absent fibula(e).…”

Section: Isolated (Nonsyndromal) Fibular A/hypoplasiamentioning

confidence: 99%

Fibular A/hypoplasia: Review and documentation of the fibular developmental field

Lewin

Opitz

Reynolds³

1986

Am. J. Med. Genet.

143

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Fibular aplasia and/or hypoplasia is documented as a developmental field defect and the extent of the fibular developmental field is delineated. The term fibular a/hypoplasia denotes the clinical spectrum of fibular deficiency in different patients and also implies that aplasia can be present in one limb and hypoplasia in the other. Causal heterogeneity of fibular a/hypoplasia is demonstrated, thereby defining it as a developmental field defect. Most cases of fibular a/hypoplasia are isolated, sporadic events. An autosomal dominant form of isolated fibular a/hypoplasia with ankle joint anomaly is reviewed. Fibular a/hypoplasia may be part of more complex sporadic dysostoses; sporadic syndromes, an aneuploidy syndrome; several autosomal dominant and autosomal recessive conditions. Fibular a/hypoplasia is also postulated to occur as a result of disruption or teratogenic insult; in animals, fibular development can be disturbed by radiation, busulfan, and retinoic acid. Clinical data allow evaluation of the extent of the fibular developmental field of the lower limb. This appears to include the pubic portion of the pelvis, proximal femur (distal half being apparent tibial developmental territory), patella, anterior cruciate ligament, and lateral and/or axial foot rays (but “never” the hallux and almost never associated with polydactyly). The rare cases of fibuloulnar dimelia allow confirmation of the well known homology of mesomelic limb segments responsible for concordant ulnar and fibular (and radial and tibial) defect, if both upper and lower limbs are involved in a given condition. Because fibular a/hypoplasia is the commonest of the mesomelic paraxial hemimelias, is usually nonsyndromal, and in most cases is apparently nongenetic (ie, with negligible recurrence risk), we propose that in humans, as in several other tetrapods, the fibula is undergoing regressive evolution and hence is developmentally especially labile.

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“…16,17 Historically, fibular deficiency has been associated with an equinovalgus foot deformity. 2,[23][24][25] The majority of patients with congenital fibular deficiency do in fact have a plantigrade or equinovalgus foot position. 6,18 However, an association between congenital fibular deficiency and equinovarus foot deformity has also been described.…”

Section: Discussionmentioning

confidence: 99%