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Metaphyseal dysplasia, Braun-Tinschert type

ORPHA:85188 · Malformation syndrome · Disorder

HPO 表現型（共 31 項）

Frequent (79-30%)(28)

  • Advanced pneumatization of cranial sinusesHP:0010540
  • Bipartite patellaHP:0010498
  • Broad femoral headHP:0008804
  • Broad femoral neckHP:0006429
  • Broad long bonesHP:0005622
  • Broad radial metaphysisHP:0004026
  • Broad tibial metaphysesHP:0006413
  • Coarse metaphyseal trabecularizationHP:0100670
  • Deformed humerusHP:0003871
  • Elevated alkaline phosphatase of bone originHP:0010639
  • Exostoses of the radiusHP:0003986
  • Exostoses of the ulnaHP:0003985
  • Fibular bowingHP:0010502
  • Flared femoral metaphysisHP:0002834
  • Humerus varusHP:0003874
  • Hypoplasia of the ulnaHP:0003022
  • Increased bone mineral densityHP:0011001
  • Increased urinary type 1 collagen N-terminal telopeptide levelHP:0032208
  • Radial bowingHP:0002986
  • Sclerosis of middle phalanx of fingerHP:0100916
  • Sclerosis of proximal phalanx of fingerHP:0100917
  • Skeletal dysplasiaHP:0002652
  • Thin bony cortexHP:0002753
  • Tibial bowingHP:0002982
  • Ulnar bowingHP:0003031
  • Upper limb metaphyseal wideningHP:0003856
  • Wide distal femoral metaphysisHP:0006387
  • Wide proximal femoral metaphysisHP:0008783

Occasional (29-5%)(3)

  • OsteopeniaHP:0000938
  • Premature loss of primary teethHP:0006323
  • ScoliosisHP:0002650