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Cortical diaphyseal thickening of the upper limbs

MedGen UID:
871083
•Concept ID:
C4025548
•
Anatomical Abnormality
HPO: HP:0003859

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCortical diaphyseal thickening of the upper limbs

Recent clinical studies

Etiology

Hyperostosis generalisata with striations of the bones, a further report in two related families.
Jones DN
Clin Radiol 1979 Jan;30(1):87-94. doi: 10.1016/s0009-9260(79)80055-0. PMID: 421429

Diagnosis

Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review.
Wallace SE, Lachman RS, Mekikian PB, Bui KK, Wilcox WR
Am J Med Genet A 2004 Sep 1;129A(3):235-47. doi: 10.1002/ajmg.a.30148. PMID: 15326622
Hyperostosis generalisata with striations of the bones, a further report in two related families.
Jones DN
Clin Radiol 1979 Jan;30(1):87-94. doi: 10.1016/s0009-9260(79)80055-0. PMID: 421429

Therapy

Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review.
Wallace SE, Lachman RS, Mekikian PB, Bui KK, Wilcox WR
Am J Med Genet A 2004 Sep 1;129A(3):235-47. doi: 10.1002/ajmg.a.30148. PMID: 15326622

Prognosis

Cortical bone distribution of the proximal phalanges in great apes: implications for reconstructing manual behaviours.
Syeda SM, Tsegai ZJ, Cazenave M, Skinner MM, Kivell TL
J Anat 2023 Nov;243(5):707-728. Epub 2023 Jun 26 doi: 10.1111/joa.13918. PMID: 37358024Free PMC Article

Clinical prediction guides

Cortical bone distribution of the proximal phalanges in great apes: implications for reconstructing manual behaviours.
Syeda SM, Tsegai ZJ, Cazenave M, Skinner MM, Kivell TL
J Anat 2023 Nov;243(5):707-728. Epub 2023 Jun 26 doi: 10.1111/joa.13918. PMID: 37358024Free PMC Article

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