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FGFR3 Chondrodysplasia

MedGen UID:
858765
•Concept ID:
C3899171
•
Disease or Syndrome

Definition

A constellation of disorders involving mutations of the FGFR3 gene, which result in abnormal growth of bone and cartilage; this includes achondroplasia and hypochondroplasia. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFGFR3 Chondrodysplasia

Professional guidelines

PubMed

Advances in treatment of achondroplasia and osteoarthritis.
Klag KA, Horton WA
Hum Mol Genet 2016 Apr 15;25(R1):R2-8. Epub 2015 Oct 6 doi: 10.1093/hmg/ddv419. PMID: 26443596

Recent clinical studies

Etiology

Diagnostic distribution and postnatal evaluation of prenatally detected short femur: A single center experience.
Kahraman AB, Simsek-Kiper PO, Utine GE, Boduroglu K
Am J Med Genet A 2022 Aug;188(8):2367-2375. Epub 2022 May 10 doi: 10.1002/ajmg.a.62769. PMID: 35535755
Fetal Skeletal Dysplasias: Radiologic-Pathologic Classification of 72 Cases.
Darouich S, Masmoudi A
Fetal Pediatr Pathol 2022 Apr;41(2):179-197. Epub 2020 Jun 18 doi: 10.1080/15513815.2020.1775735. PMID: 32552261
Analysis of skeletal dysplasias in the Utah population.
Stevenson DA, Carey JC, Byrne JL, Srisukhumbowornchai S, Feldkamp ML
Am J Med Genet A 2012 May;158A(5):1046-54. Epub 2012 Mar 27 doi: 10.1002/ajmg.a.35327. PMID: 22461456

Diagnosis

Diagnostic distribution and postnatal evaluation of prenatally detected short femur: A single center experience.
Kahraman AB, Simsek-Kiper PO, Utine GE, Boduroglu K
Am J Med Genet A 2022 Aug;188(8):2367-2375. Epub 2022 May 10 doi: 10.1002/ajmg.a.62769. PMID: 35535755
Fetal Skeletal Dysplasias: Radiologic-Pathologic Classification of 72 Cases.
Darouich S, Masmoudi A
Fetal Pediatr Pathol 2022 Apr;41(2):179-197. Epub 2020 Jun 18 doi: 10.1080/15513815.2020.1775735. PMID: 32552261
Analysis of skeletal dysplasias in the Utah population.
Stevenson DA, Carey JC, Byrne JL, Srisukhumbowornchai S, Feldkamp ML
Am J Med Genet A 2012 May;158A(5):1046-54. Epub 2012 Mar 27 doi: 10.1002/ajmg.a.35327. PMID: 22461456

Prognosis

Analysis of skeletal dysplasias in the Utah population.
Stevenson DA, Carey JC, Byrne JL, Srisukhumbowornchai S, Feldkamp ML
Am J Med Genet A 2012 May;158A(5):1046-54. Epub 2012 Mar 27 doi: 10.1002/ajmg.a.35327. PMID: 22461456

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