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Brachydactyly syndrome type E

MedGen UID:
539186
Concept ID:
C0265312
Disease or Syndrome
SNOMED CT: Brachydactyly syndrome type E (63711009)

Professional guidelines

PubMed

Hashemi S, Kang YS, Kim KW, Yang J
Sci Total Environ 2023 Jul 1;880:163325. Epub 2023 Apr 7 doi: 10.1016/j.scitotenv.2023.163325. PMID: 37030376
Gavril EC, Nucă I, Pânzaru MC, Ivanov AV, Mihai CT, Antoci LM, Ciobanu CG, Rusu C, Popescu R
Genes (Basel) 2023 Feb 11;14(2) doi: 10.3390/genes14020465. PMID: 36833393Free PMC Article
Pereda A, Garin I; Spanish Network for Imprinting Disorders, Perez de Nanclares G
BMC Med Genet 2018 Mar 2;19(1):32. doi: 10.1186/s12881-018-0530-z. PMID: 29499646Free PMC Article

Recent clinical studies

Etiology

Hashemi S, Kang YS, Kim KW, Yang J
Sci Total Environ 2023 Jul 1;880:163325. Epub 2023 Apr 7 doi: 10.1016/j.scitotenv.2023.163325. PMID: 37030376
Sentchordi-Montané L, Benito-Sanz S, Aza-Carmona M, Pereda A, Parrón-Pajares M, de la Torre C, Vasques GA, Funari MFA, Travessa AM, Dias P, Suarez-Ortega L, González-Buitrago J, Portillo-Najera NE, Llano-Rivas I, Martín-Frías M, Ramírez-Fernández J, Sánchez Del Pozo J, Garzón-Lorenzo L, Martos-Moreno GA, Alfaro-Iznaola C, Mulero-Collantes I, Ruiz-Ocaña P, Casano-Sancho P, Portela A, Ruiz-Pérez L, Del Pozo A, Vallespín E, Solís M, Lerario AM, González-Casado I, Ros-Pérez P, Pérez de Nanclares G, Jorge AAL, Heath KE
J Clin Endocrinol Metab 2020 Aug 1;105(8) doi: 10.1210/clinem/dgaa218. PMID: 32311039
Sentchordi-Montané L, Aza-Carmona M, Benito-Sanz S, Barreda-Bonis AC, Sánchez-Garre C, Prieto-Matos P, Ruiz-Ocaña P, Lechuga-Sancho A, Carcavilla-Urquí A, Mulero-Collantes I, Martos-Moreno GA, Del Pozo A, Vallespín E, Offiah A, Parrón-Pajares M, Dinis I, Sousa SB, Ros-Pérez P, González-Casado I, Heath KE
Clin Endocrinol (Oxf) 2018 Jun;88(6):820-829. Epub 2018 Mar 24 doi: 10.1111/cen.13581. PMID: 29464738
Vasques GA, Funari MFA, Ferreira FM, Aza-Carmona M, Sentchordi-Montané L, Barraza-García J, Lerario AM, Yamamoto GL, Naslavsky MS, Duarte YAO, Bertola DR, Heath KE, Jorge AAL
J Clin Endocrinol Metab 2018 Feb 1;103(2):604-614. doi: 10.1210/jc.2017-02026. PMID: 29155992
El Kholy M, Fahmi ME, Nassar AE, Selim S, Elsedfy HH
Horm Res 2007;68(6):272-5. Epub 2007 Jun 20 doi: 10.1159/000104175. PMID: 17587855

Diagnosis

Gavril EC, Nucă I, Pânzaru MC, Ivanov AV, Mihai CT, Antoci LM, Ciobanu CG, Rusu C, Popescu R
Genes (Basel) 2023 Feb 11;14(2) doi: 10.3390/genes14020465. PMID: 36833393Free PMC Article
Libianto R, Wu KH, Devery S, Eisman JA, Center JR
Bone 2019 Jun;123:18-22. Epub 2019 Mar 12 doi: 10.1016/j.bone.2019.03.012. PMID: 30877071
Toka O, Tank J, Schächterle C, Aydin A, Maass PG, Elitok S, Bartels-Klein E, Hollfinger I, Lindschau C, Mai K, Boschmann M, Rahn G, Movsesian MA, Müller T, Doescher A, Gnoth S, Mühl A, Toka HR, Wefeld-Neuenfeld Y, Utz W, Töpper A, Jordan J, Schulz-Menger J, Klussmann E, Bähring S, Luft FC
Hypertension 2015 Oct;66(4):800-8. Epub 2015 Aug 17 doi: 10.1161/HYPERTENSIONAHA.115.06000. PMID: 26283042
Muhn F, Klopocki E, Graul-Neumann L, Uhrig S, Colley A, Castori M, Lankes E, Henn W, Gruber-Sedlmayr U, Seifert W, Horn D
Clin Genet 2013 Dec;84(6):531-8. Epub 2013 Feb 21 doi: 10.1111/cge.12106. PMID: 23425300
Beighton P
Pediatr Radiol 1997 May;27(5):397-401. doi: 10.1007/s002470050155. PMID: 9133350

Therapy

Du H, Gao S, Dong W, Huang Q, Qu H, Zhang C, Guo L, Liu Z, Liu M
J Clin Hypertens (Greenwich) 2024 Mar;26(3):295-298. Epub 2024 Feb 6 doi: 10.1111/jch.14769. PMID: 38319596Free PMC Article
S P, Narayanaswamy, Mathias NJ, Konan VK
J Assoc Physicians India 2023 Jan;71(1):1. PMID: 37116029
Vasques GA, Funari MFA, Ferreira FM, Aza-Carmona M, Sentchordi-Montané L, Barraza-García J, Lerario AM, Yamamoto GL, Naslavsky MS, Duarte YAO, Bertola DR, Heath KE, Jorge AAL
J Clin Endocrinol Metab 2018 Feb 1;103(2):604-614. doi: 10.1210/jc.2017-02026. PMID: 29155992
Maass PG, Rump A, Schulz H, Stricker S, Schulze L, Platzer K, Aydin A, Tinschert S, Goldring MB, Luft FC, Bähring S
J Clin Invest 2012 Nov;122(11):3990-4002. Epub 2012 Oct 24 doi: 10.1172/JCI65508. PMID: 23093776Free PMC Article
Pfeiffer RA, Santelmann R
Birth Defects Orig Artic Ser 1977;13(1):319-37. PMID: 322750

Prognosis

Li X, Li Z, Chen P, Wang Y, Wang DW, Wang DW
BMC Med Genet 2020 Jul 6;21(1):144. doi: 10.1186/s12881-020-01077-z. PMID: 32631253Free PMC Article
Vasques GA, Funari MFA, Ferreira FM, Aza-Carmona M, Sentchordi-Montané L, Barraza-García J, Lerario AM, Yamamoto GL, Naslavsky MS, Duarte YAO, Bertola DR, Heath KE, Jorge AAL
J Clin Endocrinol Metab 2018 Feb 1;103(2):604-614. doi: 10.1210/jc.2017-02026. PMID: 29155992
Thomas-Teinturier C, Pereda A, Garin I, Diez-Lopez I, Linglart A, Silve C, de Nanclares GP
Am J Med Genet A 2016 Mar;170(3):734-42. Epub 2015 Dec 6 doi: 10.1002/ajmg.a.37490. PMID: 26640227
Wang J, Wang Z, An Y, Wu C, Xu Y, Fu Q, Shen Y, Zhang Q
Clin Chim Acta 2015 Jun 15;446:9-14. Epub 2015 Mar 20 doi: 10.1016/j.cca.2015.03.019. PMID: 25801215
Weinstein LS, Yu S, Warner DR, Liu J
Endocr Rev 2001 Oct;22(5):675-705. doi: 10.1210/edrv.22.5.0439. PMID: 11588148

Clinical prediction guides

Gavril EC, Nucă I, Pânzaru MC, Ivanov AV, Mihai CT, Antoci LM, Ciobanu CG, Rusu C, Popescu R
Genes (Basel) 2023 Feb 11;14(2) doi: 10.3390/genes14020465. PMID: 36833393Free PMC Article
Sentchordi-Montané L, Benito-Sanz S, Aza-Carmona M, Pereda A, Parrón-Pajares M, de la Torre C, Vasques GA, Funari MFA, Travessa AM, Dias P, Suarez-Ortega L, González-Buitrago J, Portillo-Najera NE, Llano-Rivas I, Martín-Frías M, Ramírez-Fernández J, Sánchez Del Pozo J, Garzón-Lorenzo L, Martos-Moreno GA, Alfaro-Iznaola C, Mulero-Collantes I, Ruiz-Ocaña P, Casano-Sancho P, Portela A, Ruiz-Pérez L, Del Pozo A, Vallespín E, Solís M, Lerario AM, González-Casado I, Ros-Pérez P, Pérez de Nanclares G, Jorge AAL, Heath KE
J Clin Endocrinol Metab 2020 Aug 1;105(8) doi: 10.1210/clinem/dgaa218. PMID: 32311039
Sentchordi-Montané L, Aza-Carmona M, Benito-Sanz S, Barreda-Bonis AC, Sánchez-Garre C, Prieto-Matos P, Ruiz-Ocaña P, Lechuga-Sancho A, Carcavilla-Urquí A, Mulero-Collantes I, Martos-Moreno GA, Del Pozo A, Vallespín E, Offiah A, Parrón-Pajares M, Dinis I, Sousa SB, Ros-Pérez P, González-Casado I, Heath KE
Clin Endocrinol (Oxf) 2018 Jun;88(6):820-829. Epub 2018 Mar 24 doi: 10.1111/cen.13581. PMID: 29464738
Vasques GA, Funari MFA, Ferreira FM, Aza-Carmona M, Sentchordi-Montané L, Barraza-García J, Lerario AM, Yamamoto GL, Naslavsky MS, Duarte YAO, Bertola DR, Heath KE, Jorge AAL
J Clin Endocrinol Metab 2018 Feb 1;103(2):604-614. doi: 10.1210/jc.2017-02026. PMID: 29155992
Thomas-Teinturier C, Pereda A, Garin I, Diez-Lopez I, Linglart A, Silve C, de Nanclares GP
Am J Med Genet A 2016 Mar;170(3):734-42. Epub 2015 Dec 6 doi: 10.1002/ajmg.a.37490. PMID: 26640227

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