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150 Possible Causes for Flattening of the Talar Dome, Metaphyseal Fraying, Mutation in the PHEX Gene

  • X-Linked Hypophosphatemia

    Diagnostic methods Diagnosis is based on clinical and biochemical findings, and typical rickets/osteomalacia radiographic feautures (in children: fraying and cupping of metaphyseal[orpha.net] 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]

  • Hereditary Hypophosphatemic Rickets with Hypercalciuria

    This process is due to mutations in the FGF23 and PHEX gene.[ivami.com] The most common form is the X-linked dominant hypophosphatemic rickets caused by inactivating mutations in the PHEX gene.[medigraphic.com] This ruled out XLRH, which is the most common form of hereditary hypophosphatemic rickets that is due to inactivating mutations in the gene PHEX (OMIM# 307800) and where the[revistanefrologia.com]

    Missing: Flattening of the Talar Dome
  • Familial Hypophosphatemia

    Growth plate widening with metaphyseal flaying and fraying, bowing of lower limb long bones, rachitic rosary ribs, coxa vara 4 public playlists includes this case Case information[radiopaedia.org] X-linked dominant hypophosphatemic rickets, due to mutations in the PHEX gene, is the most common inherited form of the disorder.[genedx.com] Radiographs show thin cortices and subperiosteal resorption, mild metaphyseal fraying of the femur and tibia bilaterally with a relative lack of provisional calcification,[pediatrics.aappublications.org]

    Missing: Flattening of the Talar Dome
  • Hypophosphatemia

    Diagnostic methods Diagnosis is based on clinical and biochemical findings, and typical rickets/osteomalacia radiographic feautures (in children: fraying and cupping of metaphyseal[orpha.net] Etiology The disease is caused by various mutations in the PHEX gene (Xp22.1) and is transmitted as an X-linked dominant trait with complete penetrance, but variable expressivity[orpha.net]

    Missing: Flattening of the Talar Dome
  • Vitamin D Deficiency

    The radiography of the wrist showed evidence of cupping, fraying, metaphyseal widening, and demineralization of the distal radial and ulnar metaphyses.[ncbi.nlm.nih.gov] […] in the PHEX gene.[ncbi.nlm.nih.gov] The characteristic finding is of wide growth plates due to poor mineralization, and a frayed appearance at the metaphyseal margin.[news-medical.net]

    Missing: Flattening of the Talar Dome
  • Oncogenic Osteomalacia

    […] cupping and fraying, bowing of long bones, and multiple rib fractures with collapse of the thoracic cage.[pediatrics.aappublications.org] DNA from OOM tumor cells was analyzed for mutations in the PHEX gene, which is mutated in HYP.[ncbi.nlm.nih.gov] Identification of two novel mutations in the PHEX gene in Chinese patients with hypophosphatemic rickets/osteomalacia. PLoS One. 2014; 9(5): e97830.[journals.viamedica.pl]

    Missing: Flattening of the Talar Dome
  • X-Linked Osteoporosis with Fractures

    A child with rickets, demonstrating classic metaphyseal fraying and physeal widening.[rad.washington.edu] […] in the PHEX gene (phosphate-regulating gene with homologies to endopeptidase on the X chromosome).[iofbonehealth.org] The classic “rachitic rosary” of the chest is due to cartilage overgrowth and metaphyseal splaying at the costochondral junction of the ribs.[rad.washington.edu]

    Missing: Flattening of the Talar Dome
  • Mohr Syndrome

    Mohr syndrome, one of the numerous forms of oro-facial-digital syndrome (OFDS), is a rare autosomal recessive disorder characterized by specific anomalies of the oral cavity, face, and digits. The diagnosis is clinical and hence a thorough physical exam is essential. Mohr syndrome is the second of at least nine[…][symptoma.com]

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

    […] cupping and fraying of tubular bones have also been observed in Jansen metaphyseal dysplasia (OMIM 156400), which differs by the presence of splayed rib ends and normal alkaline[journals.lww.com] […] defects reaching far into the diaphyses (the tubular bones are short and bowed with V-shaped ossification defects at their ends reaching deep into the diaphyses). 10,20 Metaphyseal[journals.lww.com]

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

    […] occuring due to fraying and disorganisation of spongy bone in the metaphyseal region METAPHYSEAL FRAYING 6.[slideshare.net] CONCLUSIONS: Novel and de novo mutations are frequent and PHEX mutations are still the most common genetic defects in the Turkish population.[ncbi.nlm.nih.gov] In all children, the radiological examination demonstrated diffuse bony sclerosis and metaphyseal splaying and fraying of long bones.[ncbi.nlm.nih.gov]

    Missing: Flattening of the Talar Dome