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1/36. An accessory ossification centre in the calcaneus with talonavicular and second metatarsocuneiform coalitions.

    We present the case of an 11-year-old girl with an accessory ossification centre of the calcaneus with talonavicular and second metatarsocuneiform coalitions, and bilateral os tibiale externum.
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ranking = 1
keywords = tibia
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2/36. Confirmation of arterial deficiencies in a limb with necrosis following clubfoot surgery.

    This study describes postoperative necrosis of the hallux and first ray in a child with clubfoot. Arteriography performed on this child's lower limbs demonstrated, in the operated leg, hypoplasia of both the anterior and posterior tibial arteries and failure of the dorsalis pedis artery to traverse the tarsus and complete the deep plantar arch. Previously, congenital vascular deficiency was suggested to predispose such operated limbs to necrosis. These findings confirm the association between vascular deficiency and necrosis. In this present study, the metabolic demands of wound healing were sufficient in a limb with vascular deficiency to cause localized distal hypoperfusion leading to cyanosis and necrosis of the hallux and medial foot.
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3/36. anatomy of a duplicated human foot from a limb with fibular dimelia.

    At birth, a patient presented with a right lower limb featuring preaxial polydactyly and fibular dimelia with a complete absence of the tibia. Radiographic studies of the patient's foot revealed a duplicated tarsus with eight metatarsals and toes. The three preaxial toes were surgically removed at 1 year of age. A hallux and four normal-appearing postaxial toes remained. The foot was amputated when the patient was 3 years old. dissection of the amputated foot revealed that the muscles of the dorsum were normal, except that the tendon of the extensor hallucis brevis muscle inserted into both the hallux and toe 2, rather than only into the hallux. The few abnormalities observed among the muscles on the plantar surface of the foot included absence of the insertions of the tibialis posterior and the abductor hallucis muscles. In addition, the two heads of the adductor hallucis muscle inserted abnormally into the medial (tibial) side of metatarsal 1, rather than into the lateral side. These various muscular anomalies, in addition to the mirror duplication of the foot with the presence of only a single metatarsal 1, leads us to propose that this metatarsal probably represents two lateral (fibular) halves that form a laterally duplicated bone. Although the dorsalis pedis artery was present on the dorsal surface of the foot, most of its derivatives were absent. This artery did give rise to a supernumerary medial branch that ended abruptly in the connective tissue (presumably postsurgical scar) at the medial border of the foot. This branch may have represented a duplicated dorsalis pedis artery associated with the duplicated preaxial portion of the foot. The arteries on the plantar surface of the foot were normal. Even though some anomalies in the pattern of the cutaneous innervation were observed, the nerves of the foot were largely normal. The gross and radiographic anatomy of this specimen and the radiographic anatomy of the leg suggest that some teratogenic event occurred when developmental specification reached the level of the future knee. The teratogenic event, which probably occurred early in the fifth week of development, may have caused damage that led to a lateral duplication of both the leg and the foot with the absence of some of the most medial structures. teratology 60:272-282, 1999.
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ranking = 3
keywords = tibia
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4/36. Are triphalangeal thumb-polysyndactyly syndrome (TPTPS) and tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (THPTTS) identical? A father with TPTPS and his daughter with THPTTS in a Thai family.

    We report on a Thai man who had triphalangeal thumb-polysyndactyly syndrome (TPTPS, MIM *190605) and his daughter who had tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (THPTTS, MIM *188770). The father had polysyndactyly of triphalangeal thumbs, syndactyly of fingers, duplicated distal phalanx of the left great toe, brachymesophalangy of toes, and the absence of middle phalanges of some toes. He was diagnosed as having TPTPS. His daughter was more severely affected, having complete syndactyly of five-fingered hands in rosebud fashion (Haas-type syndactyly), hypoplastic tibiae, absent patellae, thick and displaced fibulae, preaxial polysyndactyly of triphalangeal toes, and cutaneous syndactyly of some toes, the manifestations being consistent with THPTTS. Having two different syndromes in the same family suggests that they are actually the same disorder. A literature survey showed that there have been several families where THPTTS occurred with TPTPS or Haas-type syndactyly (and/or preaxial polydactyly type 2, PPD2). In addition, all loci for TPTPS, THPTTS, and PPD2 (and/or PPD3) have been assigned to chromosome band 7q36. These findings support our conclusion that TPTPS, PPD2 (and/or PPD3), and Haas-type syndactyly are a single genetic en-tity (THPTTS). We propose to call the condition "tibial hemimelia-polysyndactyly-triphalangeal thumbs syndrome." copyright 2000 Wiley-Liss, Inc.
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ranking = 7
keywords = tibia
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5/36. Morphologic and radiographic characterization of fibular dimelia.

    Fibular dimelia accompanied by complete tibial agenesis is a rare developmental anomaly that has been reported in the anatomic and clinical literature as both a dimelia and a diplopodia. Previous reports have offered variable descriptions of structural aberration and possible modes of altered embryologic development. We present a clinical and radiographic history of the progressive development of this anomaly, and a detailed postsurgical dissection and histopathologic examination. The specific mirroring of the separate components in this case has not been previously reported, and suggests that a reestablishment of limb polarity may have occurred during embryogenesis. Our detailed morphologic investigation strongly suggests a central role for the mesenchymal precursor from which chondro-osseous morphology subsequently emerges, and the relevance to establishing muscular attachments.
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ranking = 1
keywords = tibia
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6/36. Brachyphalangy, feet polydactyly, absent/hypoplastic tibiae: a further case and review of main diagnostic findings.

    In 1997, Baraitser et al. (Clin Dysmorphol 6:111-121) described a patient with a complex phenotype characterized by facial dysmorphism, micropenis, brachydactyly, pre-axial polydactyly of the feet and tibial aplasia. We report here a patient with similar features.
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ranking = 5
keywords = tibia
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7/36. Correction of complex foot deformities using the Ilizarov external fixator.

    There are many drawbacks to using conventional approaches to the treatment of complex foot deformities, like the increased risk of neurovascular injury, soft-tissue injury, and the shortening of the foot. An alternative approach that can eliminate these problems is the Ilizarov method. In the current study, a total of 23 deformed feet in 22 patients were treated using the Ilizarov method. The etiologic factors were burn contracture, poliomyelitis, neglected and relapsed clubfoot, trauma, gun shot injury, meningitis, and leg-length discrepancy (LLD). The average age of the patients was 18.2 (5-50) years. The mean duration of fixator application was 5.1 (2-14) months. We performed corrections without an osteotomy in nine feet and with an osteotomy in 14 feet. Additional bony corrective procedures included three tibial and one femoral osteotomies for lengthening and deformity correction, and one tibiotalar arthrodesis in five separate extremities. At the time of fixator removal, a plantigrade foot was achieved in 21 of the 23 feet by pressure mat analysis. Compared to preoperative status, gait was subjectively improved in all patients. Follow-up time from surgery averaged 25 months (13-38). Pin-tract problems were observed in all cases. Other complications were toe contractures in two feet, metatarsophalangeal subluxation from flexor tendon contractures in one foot, incomplete osteotomy in one foot, residual deformity in two feet, and recurrence of deformity in one foot. Our results indicate that the Ilizarov method is an effective alternative means of correcting complex foot deformities, especially in feet that previously have undergone surgery.
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ranking = 1
keywords = tibia
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8/36. Malleolus externus plasty for joint reconstruction in fibular aplasia: preliminary report of a new technique.

    The instability of the upper and the lower ankle joint represents a serious problem in patients with fibular aplasia. None of the previous techniques demonstrated at least sufficient results. In this report we present a new technique of malleolus externus plasty applied in a 5 1/2-year-old boy with fibular aplasia (type II according to Coventry and Johnson or type Ib according to Achtermann and Kalamchi) with a 6 cm length deficiency of the lower leg and 1 cm of the upper leg. Furthermore, he showed a tibial antecurvation deformity of 20 degrees, a fourth ray foot with adduction deformity of the hindfoot, cutane syndactyly D 2-4, and a hallux varus. This new technique works on the following principle. A triangular iliac crest transplant is implanted with an apophysis and the annexing fascia glutealis, including the osseous part of the transplant, in the lateral distal tibia in a way that the growing apophyseal part lays distally covering the lateral talus. Gluteal fascia annexed to the apophysis was used for the reconstruction of a lateral tendon. Using a ring fixator the transplant is fixed and coincidentally the lower leg lengthened and the axis corrected. The axis deformity and the leg-length deficiency of 7 cm were equalized. The fixator could be removed after 6 months. Radiologically, an entire integration of the iliac crest transplant was found. magnetic resonance imaging showed it had sufficient circulation. The reexamination 2.5 years later demonstrated a simultaneous growth of the malleolus externus and the distal tibia and stable ankle joints with sufficient mobility and full weight-bearing capability. For support of the foot the boy uses ready-made shoes with curved arch supports. In conclusion, using this new technique an individually adapted lateral malleolus with growth-potential can be constructed that stabilizes the foot and the ankle joints. Thus, reluxations of the foot specifically in relation to lengthening of lower legs can be avoided with concurrent preservation of the range of movement of the ankle joint.
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ranking = 3
keywords = tibia
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9/36. Fibular aplasia with ectrodactyly.

    Fibular aplasia with split hand/foot or other defects of the central axis is a rare disorder that shares several characteristics with the better known tibial aplasia-ectrodactyly syndrome. They appear to be inherited in an autosomal dominant fashion. In both, however, the phenotype is markedly variable, penetrance is reduced, and apparently sporadic cases are relatively frequent. We report a new case of this disorder and review the clinical and demographic findings in 47 others identified from the literature or other sources. A key observation was that the sex ratio is biased toward males, especially in apparently sporadic cases. This male bias is largely explained by a lower penetrance rate in women. Both affected males and females had affected children, but the risk to offspring was higher when the mother carried the gene, in keeping with a mixed model for genetic susceptibility, i.e., the penetrance of the major predisposing gene is acting against a multifactorially determined level of liability. Given the high degree of nonpenetrance and very variable expressivity, counseling with respect to recurrence risk is problematic and will likely remain so, even when the major predisposing gene is identified.
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ranking = 1
keywords = tibia
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10/36. VATER--tibia aplasia association: report on two patients.

    We report two patients with oesophageal atresia, tracheo-oesophageal fistula and unilateral tibial aplasia. The karyotype in both patients was normal and both cases were sporadic. The congenital defects of the children can be regarded as an uncommon variant of VA(C)TER(L) association. Recently Basel and Goldblatt [(2000) Clin Dysmorphol 9:205-208] reported a similar patient with a VATER-tibia aplasia association.
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ranking = 6
keywords = tibia
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