BibTex RIS Kaynak Göster

De Barsy syndrome in an extreme preterm infant

Yıl 2011, Cilt: 3 Sayı: 3, 1 - 4, 30.07.2011

Heba Al-sagban Hakam Yaseen , Mona Khalaf Hiba Yaseen

https://izlik.org/JA87ZR37CP

Öz

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.

Anahtar Kelimeler

De Barsy syndrome Cutis laxa Progeroid syndromes

Kaynakça

  • 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.

Yıl 2011, Cilt: 3 Sayı: 3, 1 - 4, 30.07.2011

Heba Al-sagban Hakam Yaseen , Mona Khalaf Hiba Yaseen

https://izlik.org/JA87ZR37CP

Öz

Kaynakça

  • 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.
Toplam 7 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Yazarlar

Heba Al-sagban Bu kişi benim

Hakam Yaseen

Mona Khalaf Bu kişi benim

Hiba Yaseen Bu kişi benim

Yayımlanma Tarihi 30 Temmuz 2011
DOI https://doi.org/10.17334/jps.85997
IZ https://izlik.org/JA87ZR37CP
Yayımlandığı Sayı Yıl 2011 Cilt: 3 Sayı: 3

Kaynak Göster

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, ve 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 (01 Temmuz 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, ve H. Yaseen, “De Barsy syndrome in an extreme preterm infant”, Journal of Pediatric Sciences, c. 3, sy 3, ss. 1–4, Tem. 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 (01 Temmuz 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, vd. “De Barsy syndrome in an extreme preterm infant”. Journal of Pediatric Sciences, c. 3, sy 3, Temmuz 2011, ss. 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]. 01 Temmuz 2011;3(3):1-4. Erişim adresi: https://izlik.org/JA87ZR37CP