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De Barsy syndrome in an extreme preterm infant

Year 2011, Volume: 3 Issue: 3, 1 - 4, 30.07.2011

Heba Al-sagban Hakam Yaseen , Mona Khalaf Hiba Yaseen

https://izlik.org/JA87ZR37CP

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

De Barsy syndrome Cutis laxa Progeroid syndromes

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.

Year 2011, Volume: 3 Issue: 3, 1 - 4, 30.07.2011

Heba Al-sagban Hakam Yaseen , Mona Khalaf Hiba Yaseen

https://izlik.org/JA87ZR37CP

Abstract

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.
There are 7 citations in total.

Details

Primary Language English
Authors

Heba Al-sagban This is me

Hakam Yaseen

Mona Khalaf This is me

Hiba Yaseen This is me

Publication Date July 30, 2011
DOI https://doi.org/10.17334/jps.85997
IZ https://izlik.org/JA87ZR37CP
Published in Issue Year 2011 Volume: 3 Issue: 3

Cite

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.Al-sagban H, Yaseen H, Khalaf M, Yaseen H. De Barsy syndrome in an extreme preterm infant. Journal of Pediatric Sciences [Internet]. 2011 July 1;3(3):1-4. Available from: https://izlik.org/JA87ZR37CP