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Epiphyseal dysplasia, multiple, 1, severe

MedGen UID:
865097
•Concept ID:
C4016660
•
Finding
Synonym: EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, SEVERE
 
OMIM®: 600310

Professional guidelines

PubMed

Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management.
Chandler N, Best S, Hayward J, Faravelli F, Mansour S, Kivuva E, Tapon D, Male A, DeVile C, Chitty LS
Genet Med 2018 Nov;20(11):1430-1437. Epub 2018 Mar 29 doi: 10.1038/gim.2018.30. PMID: 29595812

Recent clinical studies

Etiology

Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management.
Chandler N, Best S, Hayward J, Faravelli F, Mansour S, Kivuva E, Tapon D, Male A, DeVile C, Chitty LS
Genet Med 2018 Nov;20(11):1430-1437. Epub 2018 Mar 29 doi: 10.1038/gim.2018.30. PMID: 29595812
Comparison of orthopaedic manifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMP mutations: a case control study.
Seo SG, Song HR, Kim HW, Yoo WJ, Shim JS, Chung CY, Park MS, Oh CW, Jeong C, Song KS, Kim OH, Park SS, Choi IH, Cho TJ
BMC Musculoskelet Disord 2014 Mar 15;15:84. doi: 10.1186/1471-2474-15-84. PMID: 24629099Free PMC Article

Diagnosis

Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management.
Chandler N, Best S, Hayward J, Faravelli F, Mansour S, Kivuva E, Tapon D, Male A, DeVile C, Chitty LS
Genet Med 2018 Nov;20(11):1430-1437. Epub 2018 Mar 29 doi: 10.1038/gim.2018.30. PMID: 29595812

Prognosis

Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management.
Chandler N, Best S, Hayward J, Faravelli F, Mansour S, Kivuva E, Tapon D, Male A, DeVile C, Chitty LS
Genet Med 2018 Nov;20(11):1430-1437. Epub 2018 Mar 29 doi: 10.1038/gim.2018.30. PMID: 29595812
Comparison of orthopaedic manifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMP mutations: a case control study.
Seo SG, Song HR, Kim HW, Yoo WJ, Shim JS, Chung CY, Park MS, Oh CW, Jeong C, Song KS, Kim OH, Park SS, Choi IH, Cho TJ
BMC Musculoskelet Disord 2014 Mar 15;15:84. doi: 10.1186/1471-2474-15-84. PMID: 24629099Free PMC Article

Clinical prediction guides

Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management.
Chandler N, Best S, Hayward J, Faravelli F, Mansour S, Kivuva E, Tapon D, Male A, DeVile C, Chitty LS
Genet Med 2018 Nov;20(11):1430-1437. Epub 2018 Mar 29 doi: 10.1038/gim.2018.30. PMID: 29595812

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