EN
De Barsy syndrome in an extreme preterm infant
Abstract
We report a rare case of an extreme preterm infant with De Barsy syndrome characterized by severe mental retardation, cutis laxa, cloudy corneas, muscular hypotonia, and lax joints. The etiology of this syndrome is unknown but it is probably heterogeneous. Recently a autosomal recessive glycosylation disorder (ATP6V0A2-CDG) has been associated with De Barsy syndrome.
Keywords
References
- De Barsy AM, Moens E, Dierckx L.Dwarfism, oligophrenia and degeneration of the elastic tissue in skin and cornea. A new syndrome? Helv Paediatr Acta 1968; 23:305-313
- Emma C. Kivuva, Micheal J. Parker, Marta C. Cohen, Bart E. Wagner and Glenda Sobey: De Barsy syndrome: a review of the phenotype. Clinical dysmorphology 2008, 17:99-107
- B.F Pontz, F.Zepp, and H.StoB Biochemical, morphological and immunological findings in a patient with a cutis laxa-associated inborn disorder (De Barsy syndrome). Eur J Pediatr 1986, 144:348- 354.
- Kunze J, Majewski F, Montgomery P, Hockey A, Karkut I, Riebel TH De Barsy syndrome-an autosomal recessive, progeroid syndrome. Eur J Pediatr 1985, 144:348-354.
- Guerra D, Fornieri C, Bacchelli B, Lugli L, Torelli P, Balli F et al. The De Barsy syndrome. J Cutan Pathol 2004; 31:616-624.
- Aldave AJ, Eagle RC Jr, Streeten BW, Qi J, Raber IM. Congenital corneal opacification in De Barsy syndrome.Arch opthalmol 2001;119: 285-288.
- Elisa Leao-Teles, Dulce Quelhas, Laura Vilarinho Jaak Jaeken. De Barsy syndrome and ATP6V0A2- CDG 2010; Eur J Hum Genet. 2010;18: 526.
Details
Primary Language
English
Subjects
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Journal Section
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Publication Date
July 30, 2011
Submission Date
June 8, 2011
Acceptance Date
-
Published in Issue
Year 1970 Volume: 3 Number: 3
APA
Al-sagban, H., Yaseen, H., Khalaf, M., & Yaseen, H. (2011). De Barsy syndrome in an extreme preterm infant. Journal of Pediatric Sciences, 3(3), 1-4. https://doi.org/10.17334/jps.85997
AMA
1.Al-sagban H, Yaseen H, Khalaf M, Yaseen H. De Barsy syndrome in an extreme preterm infant. Journal of Pediatric Sciences. 2011;3(3):1-4. doi:10.17334/jps.85997
Chicago
Al-sagban, Heba, Hakam Yaseen, Mona Khalaf, and Hiba Yaseen. 2011. “De Barsy Syndrome in an Extreme Preterm Infant”. Journal of Pediatric Sciences 3 (3): 1-4. https://doi.org/10.17334/jps.85997.
EndNote
Al-sagban H, Yaseen H, Khalaf M, Yaseen H (July 1, 2011) De Barsy syndrome in an extreme preterm infant. Journal of Pediatric Sciences 3 3 1–4.
IEEE
[1]H. Al-sagban, H. Yaseen, M. Khalaf, and H. Yaseen, “De Barsy syndrome in an extreme preterm infant”, Journal of Pediatric Sciences, vol. 3, no. 3, pp. 1–4, July 2011, doi: 10.17334/jps.85997.
ISNAD
Al-sagban, Heba - Yaseen, Hakam - Khalaf, Mona - Yaseen, Hiba. “De Barsy Syndrome in an Extreme Preterm Infant”. Journal of Pediatric Sciences 3/3 (July 1, 2011): 1-4. https://doi.org/10.17334/jps.85997.
JAMA
1.Al-sagban H, Yaseen H, Khalaf M, Yaseen H. De Barsy syndrome in an extreme preterm infant. Journal of Pediatric Sciences. 2011;3:1–4.
MLA
Al-sagban, Heba, et al. “De Barsy Syndrome in an Extreme Preterm Infant”. Journal of Pediatric Sciences, vol. 3, no. 3, July 2011, pp. 1-4, doi:10.17334/jps.85997.
Vancouver
1.Heba Al-sagban, Hakam Yaseen, Mona Khalaf, Hiba Yaseen. De Barsy syndrome in an extreme preterm infant. Journal of Pediatric Sciences. 2011 Jul. 1;3(3):1-4. doi:10.17334/jps.85997