van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures
- PMID: 15971261
- DOI: 10.1002/ajmg.a.30665
van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures
Abstract
Here, we report on a Venezuelan child with manifestations of van den Ende-Gupta syndrome, including blepharophimosis, arachnodactyly, and congenital contractures. We also review cases from the literature.
(c) 2005 Wiley-Liss, Inc.
Similar articles
-
van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: clinical delineation and recurrence in brothers.Am J Med Genet A. 2003 Apr 30;118A(3):267-73. doi: 10.1002/ajmg.a.10143. Am J Med Genet A. 2003. PMID: 12673658
-
Further delineation of a new (Van Den Ende-Gupta) syndrome of blepharophimosis contractural arachnodactyly, and characteristic face.Am J Med Genet. 1998 Apr 28;77(1):16-8. doi: 10.1002/(sici)1096-8628(19980428)77:1<16::aid-ajmg4>3.0.co;2-j. Am J Med Genet. 1998. PMID: 9557887
-
Further delineation of van den Ende-Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome.Am J Med Genet A. 2021 Jul;185(7):2136-2149. doi: 10.1002/ajmg.a.62194. Epub 2021 Mar 30. Am J Med Genet A. 2021. PMID: 33783941
-
Identification of a novel variant of SCARF2 in a Jordanian family with a van den Ende-Gupta Syndrome and literature review.Clin Dysmorphol. 2022 Jul 1;31(3):157-161. doi: 10.1097/MCD.0000000000000415. Epub 2022 Mar 7. Clin Dysmorphol. 2022. PMID: 35256560 Review. No abstract available.
-
Probable identity of Goltz syndrome and Van Allen-Myhre syndrome: evidence from phenotypic evolution.Am J Med Genet. 2002 Jul 15;110(4):370-9. doi: 10.1002/ajmg.10456. Am J Med Genet. 2002. PMID: 12116212 Review.
Cited by
-
Scavenger receptor class F member 2 (SCARF2) as a novel therapeutic target in glioblastoma.Toxicol Res. 2022 Feb 25;38(2):249-256. doi: 10.1007/s43188-022-00125-5. eCollection 2022 Apr. Toxicol Res. 2022. PMID: 35419275 Free PMC article.
-
Inclusion of joint laxity, recurrent patellar dislocation, and short distal ulnae as a feature of Van Den Ende-Gupta syndrome: a case report.BMC Med Genet. 2018 Jan 30;19(1):18. doi: 10.1186/s12881-018-0531-y. BMC Med Genet. 2018. PMID: 29378527 Free PMC article.
-
Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome.Am J Hum Genet. 2010 Oct 8;87(4):553-9. doi: 10.1016/j.ajhg.2010.09.005. Am J Hum Genet. 2010. PMID: 20887961 Free PMC article.
-
Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome.Mol Syndromol. 2010;1(5):239-245. doi: 10.1159/000328135. Epub 2011 May 18. Mol Syndromol. 2010. PMID: 22140376 Free PMC article.
-
Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion.Am J Med Genet A. 2014 May;164A(5):1170-4. doi: 10.1002/ajmg.a.36425. Epub 2014 Jan 29. Am J Med Genet A. 2014. PMID: 24478002 Free PMC article.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Medical