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Upper-limb metaphyseal irregularity

MedGen UID:
867356
•Concept ID:
C4021720
•
Finding
Synonyms: Irregular metaphyses of the upper limbs; Irregular wide portion of upper limb bones
 
HPO: HP:0003850

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVUpper-limb metaphyseal irregularity

Conditions with this feature

Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
MedGen UID:
1684771
•Concept ID:
C5231478
•
Disease or Syndrome
The Isidor-Toutain type of spondyloepimetaphyseal dysplasia (SEMDIST) is characterized by normal birth length, early postnatal growth deficiency, severe short stature, and genu varum. Skeletal radiographs show platyspondyly and severe epiphyseal and metaphyseal changes in the lower limbs (Le Caignec et al., 2019).
See: Condition Record
Spondyloepimetaphyseal dysplasia, Isidor-Toutain type

Recent clinical studies

Etiology

The spondylometaphyseal dysplasias. A tentative classification.
Maroteaux P, Spranger J
Pediatr Radiol 1991;21(4):293-7. doi: 10.1007/BF02018629. PMID: 1870931

Diagnosis

Distinctive metaphyseal chondrodysplasia with severe distal radius and ulna involvement (upper extremity mesomelia) and normal height.
Camera A, Camera G
Am J Med Genet A 2003 Oct 1;122A(2):159-63. doi: 10.1002/ajmg.a.20222. PMID: 12955769

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