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121 Possible Causes for Defect in Dentin Maturation, Flattening of the Talar Dome, Metaphyseal Fraying

  • 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] […] shortening of the talar neck and flattening of the talar dome.[ncbi.nlm.nih.gov] Three new skeletal alterations in XLH were found to be common: flaring of the iliac wings, trapezoidal distal femoral condyles, and alterations in talar morphology, including[ncbi.nlm.nih.gov]

  • Hereditary Hypophosphatemic Rickets with Hypercalciuria

    ARHR is caused by inactivating mutations in the DMP1 gene, which encodes Dentin matrix protein 1 and results in increased FGF 23 expression and defective osteocyte maturation[scielo.mec.pt]

    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: Defect in Dentin Maturation Flattening of the Talar Dome
  • 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: Defect in Dentin Maturation Flattening of the Talar Dome
  • Spondyloepimetaphyseal Dysplasia Type SPONASTRIME

    Sponastrime dysplasia is a rare skeletal dysplasia characterized by severe short stature, scoliosis, a saddle nose, frontal bossing, and increased upper/lower segment ratio. Etiology of this condition is unknown. Radiological findings include a concavity in the posterior two thirds of lumbar vertebral bodies,[…][ncbi.nlm.nih.gov]

    Missing: Defect in Dentin Maturation Flattening of the Talar Dome
  • X-Linked Spondyloepimetaphyseal Dysplasia

    Am J Hum Genet. 2016 Jun 2;98(6):1243-1248. doi: 10.1016/j.ajhg.2016.04.004. Epub 2016 May 26. Cho SY 1 , Bae JS 2 , Kim NKD 3 , Forzano F 4 , Girisha KM 5 , Baldo C 6 , Faravelli F 4 , Cho TJ 7 , Kim D 8 , Lee KY 8 , Ikegawa S 9 , Shim JS 10 , Ko AR 11 , Miyake N 12 , Nishimura G 13 , Superti-Furga A 14 , Spranger J 15 , Kim[…][ncbi.nlm.nih.gov]

    Missing: Defect in Dentin Maturation 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] The characteristic finding is of wide growth plates due to poor mineralization, and a frayed appearance at the metaphyseal margin.[news-medical.net]

    Missing: Defect in Dentin Maturation Flattening of the Talar Dome
  • Hypophosphatasia

    *Radiological findings can include profound hypomineralisation, irregularity of the provisional zone of calcification, physeal widening, metaphyseal flaring/fraying, metaphyseal[adc.bmj.com] TNAP was found to be highly expressed by mature odontoblasts, and Alpl(-/-) molar and incisor roots featured defective dentin mineralization, ranging from a mild delay to[ncbi.nlm.nih.gov] ., patient 7) include, as in the wrist pictured, osteopenia, metaphyseal fraying, metaphyseal flaring, and metadiaphyseal sclerosis, and as in the knee pictured, characteristic[insight.jci.org]

    Missing: Flattening of the Talar Dome
  • Fracture

    Radiologic changes that should lead to further evaluation for possible deficiency include cupping and fraying of the metaphyses, sickle-shaped metaphyseal spurs, significant[pediatrics.aappublications.org]

    Missing: Defect in Dentin Maturation Flattening of the Talar Dome
  • Growth Failure

    […] of the metaphyses and a widened epiphyseal plate. 26 Management Nutritional rickets is managed by advice about a balanced diet, correction of predisposing risk factors and[slideplayer.com] […] plasma alkaline phosphatase activity greatly increased, 25- hydroxyvitamin D may be low and parathyroid hormone elevated. 3- X-ray of the wrist joint – shows cupping and fraying[slideplayer.com]

    Missing: Defect in Dentin Maturation Flattening of the Talar Dome