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Radial metaphyseal irregularity

MedGen UID:
867328
Concept ID:
C4021692
Anatomical Abnormality
Synonym: Irregular radial metaphysis
 
HPO: HP:0004019

Definition

Irregularity of the normally smooth surface of the metaphysis of the radius. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRadial metaphyseal irregularity

Conditions with this feature

Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
MedGen UID:
98378
Concept ID:
C0410538
Congenital Abnormality
Pseudoachondroplasia is characterized by normal length at birth and normal facies. Often the presenting feature is a waddling gait, recognized at the onset of walking. Typically, the growth rate falls below the standard growth curve by approximately age two years, leading to a moderately severe form of disproportionate short-limb short stature. Joint pain during childhood, particularly in the large joints of the lower extremities, is common. Degenerative joint disease is progressive; approximately 50% of individuals with pseudoachondroplasia eventually require hip replacement surgery.

Recent clinical studies

Etiology

Glorieux FH, Rauch F, Plotkin H, Ward L, Travers R, Roughley P, Lalic L, Glorieux DF, Fassier F, Bishop NJ
J Bone Miner Res 2000 Sep;15(9):1650-8. doi: 10.1359/jbmr.2000.15.9.1650. PMID: 10976985
Carter SR, Aldridge MJ, Fitzgerald R, Davies AM
Br J Radiol 1988 Feb;61(722):109-12. doi: 10.1259/0007-1285-61-722-109. PMID: 3280066

Diagnosis

Frigola G, Del Rincón OG, Florián VB, Fita AV, Campos B, Pauta M, Puimedon MS, Oliva R, Borrell A, Nadal A
Virchows Arch 2021 Aug;479(2):413-418. Epub 2021 Jan 7 doi: 10.1007/s00428-020-02979-2. PMID: 33411029
Carter SR, Aldridge MJ, Fitzgerald R, Davies AM
Br J Radiol 1988 Feb;61(722):109-12. doi: 10.1259/0007-1285-61-722-109. PMID: 3280066

Therapy

Glorieux FH, Rauch F, Plotkin H, Ward L, Travers R, Roughley P, Lalic L, Glorieux DF, Fassier F, Bishop NJ
J Bone Miner Res 2000 Sep;15(9):1650-8. doi: 10.1359/jbmr.2000.15.9.1650. PMID: 10976985

Prognosis

Carter SR, Aldridge MJ, Fitzgerald R, Davies AM
Br J Radiol 1988 Feb;61(722):109-12. doi: 10.1259/0007-1285-61-722-109. PMID: 3280066

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