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104 Possible Causes for Flattening of the Talar Dome, Mutation in the PHEX Gene, Saber Shin

  • X-Linked Hypophosphatemia

    To date, 131 mutations in the PHEX gene have been reported.[ncbi.nlm.nih.gov] […] shortening of the talar neck and flattening of the talar dome.[ncbi.nlm.nih.gov] Gene mutations in PHEX prevent it from correctly regulating fibroblast growth factor 23.[en.wikipedia.org]

  • Familial Hypophosphatemia

    X-linked dominant hypophosphatemic rickets, due to mutations in the PHEX gene, is the most common inherited form of the disorder.[genedx.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] Mutated in X-Linked Dominant Hypophosphatemic Rickets Genome Research 7 573-585 (1997) Dixon, PH et al., Mutational Analysis of PHEX Gene in X-linked Hypophosphatemia J Clin[genedx.com]

    Missing: Flattening of the Talar Dome
  • Vitamin D Deficiency

    […] in the PHEX gene.[ncbi.nlm.nih.gov] […] his lower extremities, and was ultimately diagnosed with X-linked hypophosphatemic rickets, a disorder caused by renal wasting of phosphate that occurs as a result of a mutation[ncbi.nlm.nih.gov]

    Missing: Flattening of the Talar Dome
  • Periostitis

    shins), but it is a far less common finding in acquired disease. 9 Bone involvement often occurs in the long bones and can also be found in the skull. 9 Patients present[jucm.com] […] primary and secondary syphilis, with overlap occurring more often in HIV-infected patients. 8 Bone and joint pain is a recognized finding in congenital syphilis (known as saber[jucm.com]

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

    Later manifestations of congenital syphilis include bone and teeth deformities, such as “saddle nose” (due to destruction of the nasal septum), “saber shins” (due to inflammation[emedicine.com]

    Missing: Flattening of the Talar Dome Mutation in the PHEX Gene
  • Malignant Bone Neoplasm

    Dedifferentiated chondrosarcoma (DDCS) is a rare but highly malignant primary bone neoplasm, which is resistant to radiotherapy and chemotherapy. There remains uncertainly as to the best treatment of this disease and how to improve its prognosis. In this paper we reported a case of DDCS and reviewed the related[…][ncbi.nlm.nih.gov]

    Missing: Flattening of the Talar Dome Mutation in the PHEX Gene
  • Congenital Syphilis

    shin Bilateral forward bowing of tibia is conclusive evidence for acquired, tertiary syphilis although similar changes can occur with congenital form Acquired syphilis affects[learningradiology.com] Shins".[pathwaymedicine.org] shins, neurologic impairment, deafness, blindness Lab liver enzymes, anemia, monocytosis Diagnosis Serologic tests performed at birth may be negative.[medical-dictionary.thefreedictionary.com]

    Missing: Flattening of the Talar Dome Mutation in the PHEX Gene
  • Osteitis Deformans

    ., bowing of legs ( saber shin ) Skull involvement (in 40% of cases) Skull enlargement ( increasing hat size ) Cranial nerve deficits Impaired hearing Headache Cauda equina[amboss.com]

    Missing: Flattening of the Talar Dome Mutation in the PHEX Gene
  • Late Congenital Syphilis

    shin (sharp-edgedanteriorlyconvextibia).[johnsarm.net] The first is a depressed deformity of the bridge of the nose (saddle nose), and the second is anterior bowing of the tibias (saber shins).[histopathology-india.net] shin Bilateral forward bowing of tibia is conclusive evidence for acquired, tertiary syphilis although similar changes can occur with congenital form Acquired syphilis affects[learningradiology.com]

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

    Saber shin due to chronic untreated osteoperiostitis.[slideplayer.com] Chronic osteitis of the tibia can lead to saber shins.[emedicine.medscape.com] shins), and other soft-tissue changes (gummas, inflammatory cell infiltration).[medicinenet.com]

    Missing: Flattening of the Talar Dome Mutation in the PHEX Gene