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Pachydermodactyly, familial

MedGen UID:
324974
Concept ID:
C1838218
Disease or Syndrome
Synonym: Pachydermodactyly, Familial
 
Monarch Initiative: MONDO:0010875
OMIM®: 600356

Clinical features

From HPO
Abnormality of the skeletal system
MedGen UID:
867418
Concept ID:
C4021790
Anatomical Abnormality
An abnormality of the skeletal system.

Professional guidelines

PubMed

Kelenjian S, Mattjie RA, Franz R, Biedermann T, Brockow K
J Dtsch Dermatol Ges 2019 Apr;17(4):393-397. Epub 2019 Mar 13 doi: 10.1111/ddg.13808. PMID: 30865379

Recent clinical studies

Etiology

Kelenjian S, Mattjie RA, Franz R, Biedermann T, Brockow K
J Dtsch Dermatol Ges 2019 Apr;17(4):393-397. Epub 2019 Mar 13 doi: 10.1111/ddg.13808. PMID: 30865379

Diagnosis

Aljohani R
Medicine (Baltimore) 2022 Jan 21;101(3):e28663. doi: 10.1097/MD.0000000000028663. PMID: 35060560Free PMC Article
Jubber A, Gnanappiragasam D, Durrani M, Kinder A, Harman KE
BMJ Case Rep 2021 Jan 18;14(1) doi: 10.1136/bcr-2020-237214. PMID: 33462008Free PMC Article
Liew ALF, Ting Y
Am J Case Rep 2020 May 19;21:e923344. doi: 10.12659/AJCR.923344. PMID: 32424112Free PMC Article
Barnes LA, Bae GH, Lewis MA, Rieger KE
J Cutan Pathol 2018 Dec;45(12):949-953. Epub 2018 Oct 17 doi: 10.1111/cup.13359. PMID: 30221379
Solovăstru LG, Vâţă D, Stătescu L, Andrese E
Rev Med Chir Soc Med Nat Iasi 2014 Jul-Sep;118(3):643-8. PMID: 25341278

Therapy

Aljohani R
Medicine (Baltimore) 2022 Jan 21;101(3):e28663. doi: 10.1097/MD.0000000000028663. PMID: 35060560Free PMC Article
Solovăstru LG, Vâţă D, Stătescu L, Andrese E
Rev Med Chir Soc Med Nat Iasi 2014 Jul-Sep;118(3):643-8. PMID: 25341278

Prognosis

Liew ALF, Ting Y
Am J Case Rep 2020 May 19;21:e923344. doi: 10.12659/AJCR.923344. PMID: 32424112Free PMC Article
Kelenjian S, Mattjie RA, Franz R, Biedermann T, Brockow K
J Dtsch Dermatol Ges 2019 Apr;17(4):393-397. Epub 2019 Mar 13 doi: 10.1111/ddg.13808. PMID: 30865379

Clinical prediction guides

Liew ALF, Ting Y
Am J Case Rep 2020 May 19;21:e923344. doi: 10.12659/AJCR.923344. PMID: 32424112Free PMC Article

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