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Abnormal skeletal morphology

MedGen UID:
868760
•Concept ID:
C4023165
•
Anatomical Abnormality
Synonym: Abnormality of skeletal morphology
 
HPO: HP:0011842

Definition

An abnormality of the form, structure, or size of the skeletal system. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Abnormal skeletal morphology

Professional guidelines

PubMed

Update on the pathogenesis and treatment of skeletal fragility in type 2 diabetes mellitus.
Khosla S, Samakkarnthai P, Monroe DG, Farr JN
Nat Rev Endocrinol 2021 Nov;17(11):685-697. Epub 2021 Sep 13 doi: 10.1038/s41574-021-00555-5. PMID: 34518671Free PMC Article
Inclusion Body Myositis: Update on Pathogenesis and Treatment.
Naddaf E, Barohn RJ, Dimachkie MM
Neurotherapeutics 2018 Oct;15(4):995-1005. doi: 10.1007/s13311-018-0658-8. PMID: 30136253Free PMC Article
Diagnosis, natural history, and management of Charcot-Marie-Tooth disease.
Pareyson D, Marchesi C
Lancet Neurol 2009 Jul;8(7):654-67. doi: 10.1016/S1474-4422(09)70110-3. PMID: 19539237

Recent clinical studies

Etiology

Mutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypes.
Watkins-Chow DE, Cooke J, Pidsley R, Edwards A, Slotkin R, Leeds KE, Mullen R, Baxter LL, Campbell TG, Salzer MC, Biondini L, Gibney G, Phan Dinh Tuy F, Chelly J, Morris HD, Riegler J, Lythgoe MF, Arkell RM, Loreni F, Flint J, Pavan WJ, Keays DA
PLoS Genet 2013;9(1):e1003094. Epub 2013 Jan 31 doi: 10.1371/journal.pgen.1003094. PMID: 23382688Free PMC Article

Diagnosis

Acromesomelic dysplasia Maroteaux-type in patients from Vietnam.
Tran TH, Cao MH, Luong LH, Le PT, Vu DC, Ta TD, Bui TH, Nguyen DH, Van Ta T, Tran VK
Am J Med Genet A 2019 Aug;179(8):1420-1422. Epub 2019 May 11 doi: 10.1002/ajmg.a.61192. PMID: 31077548

Clinical prediction guides

Mutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypes.
Watkins-Chow DE, Cooke J, Pidsley R, Edwards A, Slotkin R, Leeds KE, Mullen R, Baxter LL, Campbell TG, Salzer MC, Biondini L, Gibney G, Phan Dinh Tuy F, Chelly J, Morris HD, Riegler J, Lythgoe MF, Arkell RM, Loreni F, Flint J, Pavan WJ, Keays DA
PLoS Genet 2013;9(1):e1003094. Epub 2013 Jan 31 doi: 10.1371/journal.pgen.1003094. PMID: 23382688Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

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    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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