DOI: http://dx.doi.org/10.18203/2349-3291.ijcp20164614

A rare case of Ehler Danlos syndrome - Progeroid type: a case report

G. Fatima Shirly Anitha, V. Karthik Shanmugam, V. Vignesh Rajendran

Abstract


Ehler Danlos syndrome (EDS), is a group of genetically heterogenous connective tissue disorder. A very rare type of this syndrome is the Progeroid type which is included in the NIH group of rare diseases list. The prevalence is < 1 / 1000000. Along with the usual clinical features, patients with Ehler Danlos syndrome-Progeroid type have old age appearance. Here we report one such rare case of this syndrome diagnosed in a 8 yr old child with characteristic clinical features and supportive genetic confirmation.  


Keywords


Ehler Danlos syndrome-progeroid type

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References


Kresse H, Rosthoj S, Quentin E, Hollmann J, Glossl J, Okada S, et al. Glycosaminoglycan-free small proteoglycan core protein is secreted by fibroblasts from a patient with a syndrome resembling progeroid. Am J Hum Genet. 1987;41:436-53.

Wenstrup R, Paepe AD. Ehlers-Danlos syndrome, classic type. Gene Reviews, 2010; Available at http://www.ncbi.nlm.nih.gov/books/NBK1244/#eds.Differential_Diagnosis. Accessed on 07 November 2011.

Hernandez A, Aguirre-Negrete MG, González-Flores S, Reynoso-Luna MC, Fragoso R, Nazará Z, et al. Ehlers-Danlos features with progeroid facies and mild mental retardation: further delineation of the syndrome. Clinical Genetics. 1986;30:456-61.

Guo MH, Stoler J, Lui J, Nilsson O, Bianchi DW, Hirschhorn JN, et al. Redefining the progeroid form of Ehlers–Danlos syndrome: Report of the fourth patient with B4GALT7 deficiency and review of the literature. Am J Med Genet Part A. 2013;161A:2519-27.

Faiyaz HM, Zaidi SHE, Ali M, Mureikhi MS, Kennedy S, Thani G, et al. A novel missense mutation in the galactosyl transferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers–Danlos syndrome resembling the progeroid type. Am J Med Genet. 2004;128:39-45.