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Blepharophimosis-ptosis-epicanthus inversus syndrome type 1

MedGen UID:
1843155
Concept ID:
C5680365
Disease or Syndrome
Synonyms: blepharophimosis-ptosis-epicanthus inversus syndrome type 1; Blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian failure; blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian failure; BPES type 1
 
Monarch Initiative: MONDO:0035524
Orphanet: ORPHA572354

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBlepharophimosis-ptosis-epicanthus inversus syndrome type 1

Professional guidelines

PubMed

Nuovo S, Passeri M, Di Benedetto E, Calanchini M, Meldolesi I, Di Giacomo MC, Petruzzi D, Piemontese MR, Zelante L, Sangiuolo F, Novelli G, Fabbri A, Brancati F
J Endocrinol Invest 2016 Feb;39(2):227-33. Epub 2015 Jun 23 doi: 10.1007/s40618-015-0334-3. PMID: 26100530

Recent clinical studies

Etiology

Hu S, Guo J, Wang B, Wang J, Zhou Z, Zhou G, Ding X, Ma X, Qi Y
Mol Vis 2011 Feb 9;17:436-42. PMID: 21321671Free PMC Article
Praphanphoj V, Goodman BK, Thomas GH, Niel KM, Toomes C, Dixon MJ, Geraghty MT
Genomics 2000 Apr 1;65(1):67-9. doi: 10.1006/geno.2000.6157. PMID: 10777667

Diagnosis

Shen Q, Zhao X, Ji Y, Chai P
J Craniofac Surg 2024 Jan-Feb 01;35(1):e52-e56. Epub 2023 Nov 8 doi: 10.1097/SCS.0000000000009801. PMID: 37938073Free PMC Article
Allen RC
Curr Opin Ophthalmol 2013 Sep;24(5):463-77. doi: 10.1097/ICU.0b013e3283638219. PMID: 23846188
Dixit H, Rao L, Padmalatha V, Raseswari T, Kapu AK, Panda B, Murthy K, Tosh D, Nallari P, Deenadayal M, Gupta N, Chakrabarthy B, Singh L
Reprod Biomed Online 2010 Jun;20(6):724-40. Epub 2010 Mar 1 doi: 10.1016/j.rbmo.2010.02.018. PMID: 20382564
Leon-Mateos A, Ginarte M, Ruiz-Ponte C, Carracedo A, Toribio J
Int J Dermatol 2007 Jan;46(1):61-3. doi: 10.1111/j.1365-4632.2007.03066.x. PMID: 17214723
Strømme P, Sandboe F
Acta Ophthalmol Scand 1996 Feb;74(1):45-7. doi: 10.1111/j.1600-0420.1996.tb00680.x. PMID: 8689480

Prognosis

Li F, Chai P, Fan J, Wang X, Lu W, Li J, Ge S, Jia R, Zhang H, Fan X
Cell Physiol Biochem 2018;45(1):203-211. Epub 2018 Jan 15 doi: 10.1159/000486358. PMID: 29339661
Nuovo S, Passeri M, Di Benedetto E, Calanchini M, Meldolesi I, Di Giacomo MC, Petruzzi D, Piemontese MR, Zelante L, Sangiuolo F, Novelli G, Fabbri A, Brancati F
J Endocrinol Invest 2016 Feb;39(2):227-33. Epub 2015 Jun 23 doi: 10.1007/s40618-015-0334-3. PMID: 26100530
Kosaki K, Ogata T, Kosaki R, Sato S, Matsuo N
Ophthalmic Genet 2002 Mar;23(1):43-7. doi: 10.1076/opge.23.1.43.2202. PMID: 11910558
Praphanphoj V, Goodman BK, Thomas GH, Niel KM, Toomes C, Dixon MJ, Geraghty MT
Genomics 2000 Apr 1;65(1):67-9. doi: 10.1006/geno.2000.6157. PMID: 10777667

Clinical prediction guides

Shen Q, Zhao X, Ji Y, Chai P
J Craniofac Surg 2024 Jan-Feb 01;35(1):e52-e56. Epub 2023 Nov 8 doi: 10.1097/SCS.0000000000009801. PMID: 37938073Free PMC Article
Hu J, Ke H, Luo W, Yang Y, Liu H, Li G, Qin Y, Ma J, Zhao S
J Assist Reprod Genet 2020 Jan;37(1):223-229. Epub 2019 Dec 10 doi: 10.1007/s10815-019-01651-2. PMID: 31823134Free PMC Article
Li F, Chai P, Fan J, Wang X, Lu W, Li J, Ge S, Jia R, Zhang H, Fan X
Cell Physiol Biochem 2018;45(1):203-211. Epub 2018 Jan 15 doi: 10.1159/000486358. PMID: 29339661
Nuovo S, Passeri M, Di Benedetto E, Calanchini M, Meldolesi I, Di Giacomo MC, Petruzzi D, Piemontese MR, Zelante L, Sangiuolo F, Novelli G, Fabbri A, Brancati F
J Endocrinol Invest 2016 Feb;39(2):227-33. Epub 2015 Jun 23 doi: 10.1007/s40618-015-0334-3. PMID: 26100530
Alao MJ, Lalèyè A, Lalya F, Hans Ch, Abramovicz M, Morice-Picard F, Arveiler B, Lacombe D, Rooryck C
Eur J Med Genet 2012 Nov;55(11):630-4. Epub 2012 Aug 3 doi: 10.1016/j.ejmg.2012.07.005. PMID: 22906557

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