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94 Possible Causes for Curvatures of the Femur, Tibia, Fibula, Flattening of the Talar Dome, Mutation in the PHEX Gene

  • Tibia Varum

    Usually there is an outward curvature of both femur and tibia.[checkorphan.org] Fibula The fibula is the slender lateral bone of the leg.[docgo.net] Synonym(s): bowleg , bow-leg , tibia vara . bowleg ; genu varum ; tibia varum frontal-plane malalignment of one or both lower limbs, characterized by bowing along (1) full[medical-dictionary.thefreedictionary.com] Genetic testing attributed the condition to mutations in the PHEX gene located at Xp22.1.[smw.ch] Usually there is an outward curvature of both femur and tibia, with at times an interior bend of the latter bone.[wikidoc.org]

    Missing: Flattening of the Talar Dome
  • X-Linked Hypophosphatemia

    Reported skeletal abnormalities included bowing of the tibia/fibula (52/71 (73%)), bowing of the femur (45/71 (63%)), gait disturbance (61/71 (86%)), joint pain (46/71 (65%[bone-abstracts.org] […] shortening of the talar neck and flattening of the talar dome.[ncbi.nlm.nih.gov] Neither height nor bowing angles of femurs or tibias at presentation predicted the need for future osteotomies.[ncbi.nlm.nih.gov] To date, 131 mutations in the PHEX gene have been reported.[ncbi.nlm.nih.gov] […] associated with a waddling gait, confirmed by radiographic findings: varus of the tibias, fraying of the distal metaphyseal region of both femurs and tibias, and cupping of both fibulas[analesdepediatria.org]

    Missing: Curvatures of the Femur
  • Mesomelic Dysplasia Type Savarirayan

    The authors alsonoted mildly disordered bony trabeculae but con-cluded that this was a secondary phenomenon relatedto curvature of the tubular bones.[docslide.com.br] : 20 November 2008 Cited by: 16 Abstract Nievergelt syndrome (NS) is an autosomal dominant mesomelic dysplasia characterized by specific deformities of the radius, ulna, fibula[doi.org] […] receptor gene (CASR), and the X-linked hypophsphatemia gene (PHEX).[encyclopedia.com] MalaCards based summary : Mesomelic Dysplasia, Savarirayan Type, is also known as mesomelic dysplasia with absent fibulas and triangular tibias .[malacards.org] E Steichen-Gersdorf, I Gaßner, A Superti-Furga, R Ullmann, S Stricker, E Klopocki and S Mundlos, Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2[doi.org]

    Missing: Flattening of the Talar Dome
  • Fibular Hemimelia

    […] and/or posterior cruciate ligament Knee instability Curvature of the tibia Ossification of the subtalar joint (subtalar synostosis) Malposition of the ankle in accordance[standbein-ev.com] Abstract We have noted a number of patients with features of fibular hemimelia with radiographically normal fibulae.[ncbi.nlm.nih.gov] The subsequent growth of the tibia after lengthening in patients with total fibular hemimelia is unpredictable.[ncbi.nlm.nih.gov] Absence of Fibula (Fibular Hemimelia).[pediatriconcall.com] Google Scholar 4. de Meulemeester, C, Verdonk, R, Bongaerts, W: The fibula pro tibia procedure in the treatment of nonunion of the tibia .[journals.sagepub.com]

    Missing: Flattening of the Talar Dome Mutation in the PHEX Gene
  • Ankle Arthritis

    Joint is between the lower end of tibia and fibula. Ankle joint arthritis of tibio-fibular joint is rare.[epainassist.com] Relative radiographic contraindications to performing an ankle distraction include flattening of the talar dome, presence of greater than five degrees of valgus or varus deformity[faoj.org] Of the 25 patients, 23 showed FHL involvement, 21 FDL, 21 TP, 15 PL, 15 PB, three EDL, 21 subtalar joint, six talus, six tibia, and five calcaneus on MR images.[ncbi.nlm.nih.gov] The primary goal of the procedure is to realign the spatial relationship between the talus and tibia and thereby normalize joint loading within the ankle.[ncbi.nlm.nih.gov] Associated deformities may also be addressed with supramalleolar osteotomies, tibia or fibular lengthening, and calcaneal osteotomies.[ncbi.nlm.nih.gov]

    Missing: Curvatures of the Femur Mutation in the PHEX Gene
  • Weismann Netter Syndrome

    […] outward curvature of the tibia (saber shins).[rarediseases.org] , broadening of the fibula, posterior cortical thickening of both bones and short stature.[orpha.net] The presence of tibialization of the fibulae, the fibula bone acting as tibia, is highly specific to the disorder.[medindia.net] The diagnostic findings of WNS are anterior bowing of the diaphyses of tibia and fibula, broadening or "tibialization" of the fibula and posterior cortical thickening of the[ncbi.nlm.nih.gov] , broadening or 'tibialization' of the fibula, posterior cortical thickening of both bones, and short stature.[malacards.org]

    Missing: Flattening of the Talar Dome Mutation in the PHEX Gene
  • Familial Hypophosphatemia

    […] hypophosphatasia (acquired) (congenital) (renal) - E83.39 familial - E83.31 Osteomalacia - M83.9 vitamin-D-resistant in adults - E83.31 carpus - E83.31 clavicle - E83.31 femur - E83.31 fibula[icd10coded.com] X-linked dominant hypophosphatemic rickets, due to mutations in the PHEX gene, is the most common inherited form of the disorder.[genedx.com] […] osteomalacia, unspecified 2016 2017 2018 2019 Billable/Specific Code Adult Dx (15-124 years) vitamin-D-resistant in adults E83.31 carpus E83.31 clavicle E83.31 femur E83.31 fibula[icd10data.com] Bowing deformity is common in the femur and tibia.[jisppd.com] Since, the gene mutation occurs on the X chromosome, it is called an X-linked disorder Familial Hypophosphatemia is caused by a mutation in the PHEX gene, leading to defective[dovemed.com]

    Missing: Curvatures of the Femur Flattening of the Talar Dome
  • Hypocalcemic Vitamin D-Dependent Rickets

    […] of the femur, tibia, fibula, enlargement of the wrists, enlargement of the ankles, and subperiosteal erosions due to secondary hyperparathyroidism.[iofbonehealth.org] XLH is considered to be a systemic disorder, from mutation of the phosphate-regulating gene homologous to endopeptidases on the X chromosome ( PHEX ).[emedicine.medscape.com] Clinical course : Depending on the degree of distortion, pseudoarthrosis of the lower leg (false joint formation of the tibia and possibly fibula ) may be present at birth[amboss.com] Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets. J Clin Endocrinol Metab 2001 ; 86 : 3889 –99.[adc.bmj.com] […] delayed opacification of the epiphyses, widened, distorted epiphyses, frayed, irregular metaphyses, lower limb deformities, bowing of the legs, curvatures of the femur, tibia, fibula[iofbonehealth.org]

    Missing: Flattening of the Talar Dome
  • Bipartite Talus

    Articulations talar body tibia, fibula and calcaneus lateral surface: lateral malleolus of the distal fibula talar dome: distal tibia talar head: navicular bone Attachments[radiopaedia.org] talar dome and talus bipartitus. c Axial CT image showing a talus bipartitus at the right side.[link.springer.com] Hypertrophy of foot bone Hypertrophy of hand bone Hypertrophy of humerus Hypertrophy of L ankle and foot bone Hypertrophy of L femur Hypertrophy of L fibula Hypertrophy of[icd9data.com] […] of a flattened talar dome ( Figure 6-23 ).[musculoskeletalkey.com] On the left ( b ), performed with the ankle oblique as indicated by the dorsal position of the fibula, the talar dome appears to be flattened, as its convex contours are superimposed[radiologykey.com]

    Missing: Curvatures of the Femur Mutation in the PHEX Gene
  • Fibrous Dysplasia

    Donor site of strut cortical fibula showed good regeneration with β-tricalcium phosphate.[ncbi.nlm.nih.gov] Patient presented with bilateral leg pain on examination and imaging showed bilateral tibia lytic lesion.[ncbi.nlm.nih.gov] Both inactivating mutations of PHEX, a neutral endopeptidase gene (in X-linked hypophosphatemia) ( 14, 15 ), and missense mutations in FGF-23 itself (in ADHR) ( 2 ), may result[doi.org] This bone was replaced with a fibula-free flap.[ncbi.nlm.nih.gov] The patient underwent fine-needle aspiration in her left tibia.[ncbi.nlm.nih.gov]

    Missing: Curvatures of the Femur Flattening of the Talar Dome