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Rare capillary malformation with associated anomalies

MedGen UID:
1842858
Concept ID:
C5681120
Congenital Abnormality
Orphanet: ORPHA458830

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRare capillary malformation with associated anomalies

Professional guidelines

PubMed

Douzgou S, Rawson M, Baselga E, Danielpour M, Faivre L, Kashanian A, Keppler-Noreuil KM, Kuentz P, Mancini GMS, Maniere MC, Martinez-Glez V, Parker VE, Semple RK, Srivastava S, Vabres P, De Wit MY, Graham JM Jr, Clayton-Smith J, Mirzaa GM, Biesecker LG
Clin Genet 2022 Jan;101(1):32-47. Epub 2021 Jul 16 doi: 10.1111/cge.14027. PMID: 34240408Free PMC Article
Sebold AJ, Day AM, Ewen J, Adamek J, Byars A, Cohen B, Kossoff EH, Mizuno T, Ryan M, Sievers J, Smegal L, Suskauer SJ, Thomas C, Vinks A, Zabel TA, Hammill AM, Comi AM
Pediatr Neurol 2021 Feb;115:29-40. Epub 2020 Nov 2 doi: 10.1016/j.pediatrneurol.2020.10.013. PMID: 33316689Free PMC Article
Kozłowska Z, Owsiańska Z, Wroblewska JP, Kałużna A, Marszałek A, Singh Y, Mroziński B, Liu Q, Karolak JA, Stankiewicz P, Deutsch G, Szymankiewicz-Bręborowicz M, Szczapa T
BMC Pediatr 2020 Jun 29;20(1):320. doi: 10.1186/s12887-020-02200-y. PMID: 32600276Free PMC Article

Recent clinical studies

Etiology

Handa A, Tsujioka Y, Nishimura G, Nozaki T, Kono T, Jinzaki M, Harms T, Connolly SA, Sato TS, Sato Y
Radiographics 2024 May;44(5):e230153. doi: 10.1148/rg.230153. PMID: 38602868
Brix ATH, Tørring PM, Bygum A
Acta Derm Venereol 2022 Mar 8;102:adv00662. doi: 10.2340/actadv.v102.1126. PMID: 35088870Free PMC Article
Douzgou S, Rawson M, Baselga E, Danielpour M, Faivre L, Kashanian A, Keppler-Noreuil KM, Kuentz P, Mancini GMS, Maniere MC, Martinez-Glez V, Parker VE, Semple RK, Srivastava S, Vabres P, De Wit MY, Graham JM Jr, Clayton-Smith J, Mirzaa GM, Biesecker LG
Clin Genet 2022 Jan;101(1):32-47. Epub 2021 Jul 16 doi: 10.1111/cge.14027. PMID: 34240408Free PMC Article
Sebold AJ, Day AM, Ewen J, Adamek J, Byars A, Cohen B, Kossoff EH, Mizuno T, Ryan M, Sievers J, Smegal L, Suskauer SJ, Thomas C, Vinks A, Zabel TA, Hammill AM, Comi AM
Pediatr Neurol 2021 Feb;115:29-40. Epub 2020 Nov 2 doi: 10.1016/j.pediatrneurol.2020.10.013. PMID: 33316689Free PMC Article
Mous DS, Kool HM, Wijnen R, Tibboel D, Rottier RJ
Eur Respir Rev 2018 Mar 31;27(147) Epub 2018 Jan 24 doi: 10.1183/16000617.0104-2017. PMID: 29367409Free PMC Article

Diagnosis

Douzgou S, Rawson M, Baselga E, Danielpour M, Faivre L, Kashanian A, Keppler-Noreuil KM, Kuentz P, Mancini GMS, Maniere MC, Martinez-Glez V, Parker VE, Semple RK, Srivastava S, Vabres P, De Wit MY, Graham JM Jr, Clayton-Smith J, Mirzaa GM, Biesecker LG
Clin Genet 2022 Jan;101(1):32-47. Epub 2021 Jul 16 doi: 10.1111/cge.14027. PMID: 34240408Free PMC Article
Valdivielso-Ramos M, Martin-Santiago A, Azaña JM, Hernández-Nuñez A, Vera A, Perez B, Tercedor J, Feito M, Vicente A, Prat C, Lopez-Gutierrez JC, Garnacho G, Baselga E, Roe E, Palencia S, Cordero P, Moreno R, Agudo A, de la Cueva P, Torrelo A
Clin Exp Dermatol 2021 Mar;46(2):300-305. Epub 2020 Oct 20 doi: 10.1111/ced.14428. PMID: 32840927
Santino MFF, Lopes MJP
Rev Paul Pediatr 2020;38:e2020091. Epub 2020 Dec 18 doi: 10.1590/1984-0462/2020/38/2020091. PMID: 33331597Free PMC Article
Bui TNPT, Corap A, Bygum A
Orphanet J Rare Dis 2019 Dec 4;14(1):283. doi: 10.1186/s13023-019-1229-8. PMID: 31801575Free PMC Article
Puttgen KB, Lin DD
Childs Nerv Syst 2010 Oct;26(10):1407-15. Epub 2010 Jun 27 doi: 10.1007/s00381-010-1201-3. PMID: 20582592

Therapy

Kaiga A, Sato Y, Arakawa H, Rai T, Tojo A
J Med Case Rep 2023 Dec 22;17(1):549. doi: 10.1186/s13256-023-04293-2. PMID: 38129918Free PMC Article
Leimi L, Koski JR, Kilpivaara O, Vettenranta K, Lokki AI, Meri S
Front Immunol 2023;14:1249958. Epub 2023 Sep 13 doi: 10.3389/fimmu.2023.1249958. PMID: 37771589Free PMC Article
Sebold AJ, Day AM, Ewen J, Adamek J, Byars A, Cohen B, Kossoff EH, Mizuno T, Ryan M, Sievers J, Smegal L, Suskauer SJ, Thomas C, Vinks A, Zabel TA, Hammill AM, Comi AM
Pediatr Neurol 2021 Feb;115:29-40. Epub 2020 Nov 2 doi: 10.1016/j.pediatrneurol.2020.10.013. PMID: 33316689Free PMC Article
Plumptre I, Robertson F, Rennie A, James G, Syed SB
Pediatr Dermatol 2020 Jan;37(1):162-164. Epub 2019 Nov 20 doi: 10.1111/pde.14029. PMID: 31746477
Stein SR, Perlow JH, Sawai SK
Obstet Gynecol Surv 2006 Mar;61(3):194-206. doi: 10.1097/01.ogx.0000201924.87671.90. PMID: 16490119

Prognosis

Valdivielso-Ramos M, Martin-Santiago A, Azaña JM, Hernández-Nuñez A, Vera A, Perez B, Tercedor J, Feito M, Vicente A, Prat C, Lopez-Gutierrez JC, Garnacho G, Baselga E, Roe E, Palencia S, Cordero P, Moreno R, Agudo A, de la Cueva P, Torrelo A
Clin Exp Dermatol 2021 Mar;46(2):300-305. Epub 2020 Oct 20 doi: 10.1111/ced.14428. PMID: 32840927
Bui TNPT, Corap A, Bygum A
Orphanet J Rare Dis 2019 Dec 4;14(1):283. doi: 10.1186/s13023-019-1229-8. PMID: 31801575Free PMC Article
Mous DS, Kool HM, Wijnen R, Tibboel D, Rottier RJ
Eur Respir Rev 2018 Mar 31;27(147) Epub 2018 Jan 24 doi: 10.1183/16000617.0104-2017. PMID: 29367409Free PMC Article
Garzon MC, Huang JT, Enjolras O, Frieden IJ
J Am Acad Dermatol 2007 Apr;56(4):541-64. doi: 10.1016/j.jaad.2006.05.066. PMID: 17367610
Garzon MC, Huang JT, Enjolras O, Frieden IJ
J Am Acad Dermatol 2007 Mar;56(3):353-70; quiz 371-4. doi: 10.1016/j.jaad.2006.05.069. PMID: 17317485

Clinical prediction guides

Sebold AJ, Day AM, Ewen J, Adamek J, Byars A, Cohen B, Kossoff EH, Mizuno T, Ryan M, Sievers J, Smegal L, Suskauer SJ, Thomas C, Vinks A, Zabel TA, Hammill AM, Comi AM
Pediatr Neurol 2021 Feb;115:29-40. Epub 2020 Nov 2 doi: 10.1016/j.pediatrneurol.2020.10.013. PMID: 33316689Free PMC Article
Valdivielso-Ramos M, Martin-Santiago A, Azaña JM, Hernández-Nuñez A, Vera A, Perez B, Tercedor J, Feito M, Vicente A, Prat C, Lopez-Gutierrez JC, Garnacho G, Baselga E, Roe E, Palencia S, Cordero P, Moreno R, Agudo A, de la Cueva P, Torrelo A
Clin Exp Dermatol 2021 Mar;46(2):300-305. Epub 2020 Oct 20 doi: 10.1111/ced.14428. PMID: 32840927
Bui TNPT, Corap A, Bygum A
Orphanet J Rare Dis 2019 Dec 4;14(1):283. doi: 10.1186/s13023-019-1229-8. PMID: 31801575Free PMC Article
Yadav P, De Castro DK, Waner M, Meyer L, Fay A
Semin Ophthalmol 2013 Sep-Nov;28(5-6):257-66. Epub 2013 Sep 6 doi: 10.3109/08820538.2013.825279. PMID: 24010650
Van Roost D, Kristof R, Wolf HK, Keller E
Surg Neurol 1997 Aug;48(2):175-83. doi: 10.1016/s0090-3019(96)00396-5. PMID: 9242245

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