Multiple Pterygium Syndrome (Escobar Syndrome) with Atrial Septal Defect
Escobar Syndrome
Keywords:
Multiple Pterygium Syndrome, Escobar Syndrome, Arthrogryposis multiplex, Atrial Septal Defect, hypoplastic genitaliaAbstract
Abstract: The authors present the first case of multiple pterygium syndrome (OMIM # 265000) from Gujarat, a rare syndrome characterized by multiple pterygia, facial and skeletal anomalies. A 9-year-old female child born of consanguineous marriage, with features of arthrogryposis multiplex, multiple pterygia, hypoplastic genitalia and skeletal anomalies presented with pneumonia. A previously unreported association of Atrial Septal defect was discovered on routine 2D echocardiography, which is important for prognostication and follow-up. [Gosai M et al NJIRM 2013; 4(1) : 162-165]
References
1. Jones KL, Smith’s Recognizable patterns of Human Malformation, 6th edn. Philadelphia, W.B. Saunders, 2009; pp 346-347
2. www.omim.org/entry/265000 last accessed
3. Escobar V, Bixler D, Gleiser S, Weaver DD, Gibbs T. Multiple pterygium syndrome. Am J Dis Child. 1978; 132:609–61.
4. Deepak S, DKS Subramanyam, S Sridhar, TK Dutta. Escobar syndrome in three male patients of same family Indian Journal of Human Genetics. 2011; 17(1)22-25.
5. Madhuri V, Bose A, Danda S, Shivakumar S, Kirubakaran C, Seshadari MS. Chromosomes 6/7 translocation t (6;7) (q15;q32) presenting as multiple pterygium syndrome. Indian Paediatr. 2001; 38:194–7.
6. Hoffman K, Muller JS, Stricker S, Megarbane A, Rajab A, Lindner TH, et al. Escobar sydrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma unit. Am J Med Genet. 2006; 79:303–12.
7. Morgan NV, Brueton LA, Cox P, Greally MT, Tolmie J, Pasha S, et al. Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. Am J Med Genet. 2006;79:390–5.
2. www.omim.org/entry/265000 last accessed
3. Escobar V, Bixler D, Gleiser S, Weaver DD, Gibbs T. Multiple pterygium syndrome. Am J Dis Child. 1978; 132:609–61.
4. Deepak S, DKS Subramanyam, S Sridhar, TK Dutta. Escobar syndrome in three male patients of same family Indian Journal of Human Genetics. 2011; 17(1)22-25.
5. Madhuri V, Bose A, Danda S, Shivakumar S, Kirubakaran C, Seshadari MS. Chromosomes 6/7 translocation t (6;7) (q15;q32) presenting as multiple pterygium syndrome. Indian Paediatr. 2001; 38:194–7.
6. Hoffman K, Muller JS, Stricker S, Megarbane A, Rajab A, Lindner TH, et al. Escobar sydrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma unit. Am J Med Genet. 2006; 79:303–12.
7. Morgan NV, Brueton LA, Cox P, Greally MT, Tolmie J, Pasha S, et al. Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. Am J Med Genet. 2006;79:390–5.
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Published
2017-12-26
How to Cite
M. Gosai, D. M., Gohil, D. J., B. Hariyani, D. H., Sivanandan, D. S., & Shah, D. M. (2017). Multiple Pterygium Syndrome (Escobar Syndrome) with Atrial Septal Defect: Escobar Syndrome. National Journal of Integrated Research in Medicine, 4(1), 162–164. Retrieved from http://nicpd.ac.in/ojs-/index.php/njirm/article/view/468
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Case Report
