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Items: 1 to 20 of 259

1.

Iris coloboma, blepharophimosis, arachnodactyly, joint contractures: Beals syndrome and Van den Ende-Gupta syndrome phenotypic similarities.

Rebelo CC, Furtado JM, Honjo RS, Veiga KF, Ramos ES, Ferraz VE, Paula JS.

Clin Dysmorphol. 2009 Jul;18(3):142-4. doi: 10.1097/MCD.0b013e32831368ff. No abstract available.

PMID:
19339880
2.

van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures.

Guerra D, Sanchez O, Richieri-Costa A.

Am J Med Genet A. 2005 Aug 1;136A(4):377-80. Review.

PMID:
15971261
3.
4.

van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: clinical delineation and recurrence in brothers.

Schweitzer DN, Lachman RS, Pressman BD, Graham JM Jr.

Am J Med Genet A. 2003 Apr 30;118A(3):267-73.

PMID:
12673658
5.

van den Ende-Gupta syndrome: evidence for genetic heterogeneity.

Leal GF, Silva EO.

Am J Med Genet A. 2009 Jun;149A(6):1293-5. doi: 10.1002/ajmg.a.32871.

PMID:
19449421
6.

Further delineation of the Van den Ende-Gupta syndrome.

Ali R, Almureikhi M, Al-Musaifri F, Bhat V, Teebi A, Ben-Omran T.

Am J Med Genet A. 2010 Dec;152A(12):3095-100. doi: 10.1002/ajmg.a.33725.

PMID:
21108395
7.

Van den Ende-Gupta syndrome: laryngeal abnormalities in two siblings.

Carr CW, Carron JD, Lachman RS, Abdul-Rahman OA.

Am J Med Genet A. 2007 Nov 15;143A(22):2706-11.

PMID:
17937442
8.

Congenital contractural arachnodactyly (Beals syndrome).

Tunçbilek E, Alanay Y.

Orphanet J Rare Dis. 2006 Jun 1;1:20. Review.

9.

Expanding the clinical spectrum and allelic heterogeneity in van den Ende-Gupta syndrome.

Patel N, Salih MA, Alshammari MJ, Abdulwahhab F, Adly N, Alzahrani F, Elgamal EA, Elkhashab HY, Al-Qattan M, Alkuraya FS.

Clin Genet. 2014 May;85(5):492-4. doi: 10.1111/cge.12205. Epub 2013 Jun 27. No abstract available.

PMID:
23808541
10.

Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion.

Migliavacca MP, Sobreira NL, Antonialli GP, Oliveira MM, Melaragno MI, Casteels I, de Ravel T, Brunoni D, Valle D, Perez AB.

Am J Med Genet A. 2014 May;164A(5):1170-4. doi: 10.1002/ajmg.a.36425. Epub 2014 Jan 29.

11.

Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders.

Niederhoffer KY, Fahiminiya S, Eydoux P, Mawson J, Nishimura G, Jerome-Majewska LA, Patel MS.

Am J Med Genet A. 2016 Sep;170(9):2310-21. doi: 10.1002/ajmg.a.37831. Epub 2016 Jul 4.

PMID:
27375131
12.

[The Beals-Hecht syndrome (congenital contractural arachnodactyly) revealed in a neonate].

Philip N, Garcia-Meric P, Wernert F.

Pediatrie. 1988;43(7):609-12. French.

PMID:
3200664
13.

Contractural arachnodactyly with mitral regurgitation and iridodonesis.

Huggon IC, Burke JP, Talbot JF.

Arch Dis Child. 1990 Mar;65(3):317-9.

14.

Congenital blepharophimosis, joint contractures, and muscular hypotonia.

Fitch N, Karpati G, Pinsky L.

Neurology. 1971 Dec;21(12):1214-20. No abstract available.

PMID:
5167313
15.

Congenital contractural arachnodactyly and intraocular colobomas.

Bard LA.

Birth Defects Orig Artic Ser. 1979;15(5B):189-205. No abstract available.

PMID:
526578
16.

Multiple congenital contractures (arthrogryposis) in association with Peters' anomaly and chorioretinal colobomata.

Sullivan TJ, Clarke MP, Heathcote JG, Hunter WS, Rootman DS, Morin JD.

J Pediatr Ophthalmol Strabismus. 1992 Nov-Dec;29(6):370-3. No abstract available.

PMID:
1287175
17.

Beals-Hecht syndrome (congenital contractural arachnodactyly) with additional craniospinal abnormality: a case report.

Meena JP, Gupta A, Mishra D, Juneja M.

J Pediatr Orthop B. 2015 May;24(3):226-9. doi: 10.1097/BPB.0000000000000121.

PMID:
25493702
18.

Oculoauricular dysplasia syndrome of Goldenhar and Peters' anomaly: a new association.

Ghose S, Kishore K, Patil ND.

J Pediatr Ophthalmol Strabismus. 1992 Nov-Dec;29(6):384-6. No abstract available.

PMID:
1287178
19.

Familial chilblain and late contractural arachnodactyly: a novel association?

Piga M, Vacca A, Cauli A, Porru G, Mathieu A.

Joint Bone Spine. 2009 Mar;76(2):205-8. doi: 10.1016/j.jbspin.2008.08.003. Epub 2009 Jan 4.

PMID:
19124263
20.

Congenital contractural arachnodactyly (Beals syndrome).

Su PH, Hou JW, Hwu WL, Wu MH, Wang JK, Wang TR.

Acta Paediatr Taiwan. 2000 Mar-Apr;41(2):59-62.

PMID:
10927940
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