BibTex RIS Kaynak Göster

Johanson Blizzard Sendromu

Yıl 2011, Cilt: 11 Sayı: 2, 86 - 89, 01.04.2011

Selvi Gülaşı Ali Haydar Turhan Yalçın Çelik Aytuğ Atıcı

https://doi.org/10.5222/j.child.2011.086

Öz

Johanson Blizzard Sendromu JBS ender görülen; burun kanatlarının yokluğu veya az gelişmişliği, dişte yapısal bozukluklar, orta hat deri defektleri, büyüme ve zekâ geri- liği, pankreas yetmezliği, anüsün doğuştan kapalı olması ve doğumsal sağırlıkla kendini gösteren bir durumdur. Otozomal resesif kalıtılır. Anüsün kapalı olması nedeniyle getirilen ve burun kanadında az gelişmişlik saptanan vaka- da JBS düşünülmüş ve ender rastlanması nedeniyle sunul- muştur

Anahtar Kelimeler

Johanson-Blizzard sendromu ektodermal displazi burun kanadı aplazisi

Kaynakça

  • 1. Johanson A, Blizzard R. A syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfizm, absent permenant teeth and malabsorbtion. Journale of Pediatrics 1971;79:982-7. http://dx.doi.org/10.1016/S0022-3476(71)80194-4
  • 2. Mardini MK, Ghandown I, Sakati NA. Johanson-Blizzard syndrome in a large inbred kindred with three involved members. Clin Genet 1978;14:247-50. http://dx.doi.org/10.1111/j.1399-0004.1978.tb02141.x
  • 3. Kulkarni ML, Shetty SK, Kalambella KS. JohansonBlizzard Syndrome. Indian Journal of Pediatrics 2004; 71(12):1127-9.
  • Jones KL. Smith’s Recognizable Patterns of Human Malformation, 4th edition, Philadelphia, WB Saunders Company; 1988:98-9.
  • 5. Hurst J, Baraitser M. Johanson-Blizzard Syndrome. Journal of Medical Genetics 1989;26:45-8. http://dx.doi.org/10.1136/jmg.26.1.45 PMid:2645405 PMCid:1015535
  • 6. Townes PL, White MR. Identity of two syndromes. Proteolytic, lipolytic and amyolytic deficiency of the exocrine pancreas and congenital anomalies. Am J Dis Child 1981; 135:248-50. PMid:6163353
  • 7. Alpay F, Gul D, Lenk MK. Severe intrauterine growth retardation, aged facial apperance and congenital heart disease in a newborn with Johanson-Blizzard syndrome. Pediatric Cardiology 2000;21:389-90. http://dx.doi.org/10.1007/s002460010089 PMid:10865022
  • 8. Cheung JC, Thomson H, Buncic R. Ocular manifestation of the Johanson Blizzard syndrome. American Association for Pediatric Ophtalmology and Strabismus 2009;13:512-4. http://dx.doi.org/10.1016/j.jaapos.2009.05.005 PMid:19717322
  • 9. Wettke-Schafer R, Kantner G. X-linked dominant inherited disease with lethality in hemizygous males. Human Genetics 1983;64:1-23. http://dx.doi.org/10.1007/BF00289472

Johanson Blizzard Syndrome

Yıl 2011, Cilt: 11 Sayı: 2, 86 - 89, 01.04.2011

Selvi Gülaşı Ali Haydar Turhan Yalçın Çelik Aytuğ Atıcı

https://doi.org/10.5222/j.child.2011.086

Öz

Johanson Blizzard syndrome JBS is a rare autosomal recessive congenital disorder characterized with aplasia or hypoplasia of alae nasi, teeth, and midline dermal defects, growth retardation, mental retardation, hypothyro- idism, congenital heart defects, pancreatic insufficiency, anal atresia, and congenital deafness. A newborn -diagno- sed as Johanson Blizzard syndrome because of hypoplasia of alae nasi and anal atresia is reported

Anahtar Kelimeler

Johanson-Blizzard syndrome ectodermal dysplastic disorder aplasia of alae nasi

Kaynakça

  • 1. Johanson A, Blizzard R. A syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfizm, absent permenant teeth and malabsorbtion. Journale of Pediatrics 1971;79:982-7. http://dx.doi.org/10.1016/S0022-3476(71)80194-4
  • 2. Mardini MK, Ghandown I, Sakati NA. Johanson-Blizzard syndrome in a large inbred kindred with three involved members. Clin Genet 1978;14:247-50. http://dx.doi.org/10.1111/j.1399-0004.1978.tb02141.x
  • 3. Kulkarni ML, Shetty SK, Kalambella KS. JohansonBlizzard Syndrome. Indian Journal of Pediatrics 2004; 71(12):1127-9.
  • Jones KL. Smith’s Recognizable Patterns of Human Malformation, 4th edition, Philadelphia, WB Saunders Company; 1988:98-9.
  • 5. Hurst J, Baraitser M. Johanson-Blizzard Syndrome. Journal of Medical Genetics 1989;26:45-8. http://dx.doi.org/10.1136/jmg.26.1.45 PMid:2645405 PMCid:1015535
  • 6. Townes PL, White MR. Identity of two syndromes. Proteolytic, lipolytic and amyolytic deficiency of the exocrine pancreas and congenital anomalies. Am J Dis Child 1981; 135:248-50. PMid:6163353
  • 7. Alpay F, Gul D, Lenk MK. Severe intrauterine growth retardation, aged facial apperance and congenital heart disease in a newborn with Johanson-Blizzard syndrome. Pediatric Cardiology 2000;21:389-90. http://dx.doi.org/10.1007/s002460010089 PMid:10865022
  • 8. Cheung JC, Thomson H, Buncic R. Ocular manifestation of the Johanson Blizzard syndrome. American Association for Pediatric Ophtalmology and Strabismus 2009;13:512-4. http://dx.doi.org/10.1016/j.jaapos.2009.05.005 PMid:19717322
  • 9. Wettke-Schafer R, Kantner G. X-linked dominant inherited disease with lethality in hemizygous males. Human Genetics 1983;64:1-23. http://dx.doi.org/10.1007/BF00289472
Toplam 9 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Bölüm Araştırma Makaleleri
Yazarlar

Selvi Gülaşı Bu kişi benim

Ali Haydar Turhan Bu kişi benim

Yalçın Çelik Bu kişi benim

Aytuğ Atıcı Bu kişi benim

Yayımlanma Tarihi 1 Nisan 2011
Yayımlandığı Sayı Yıl 2011 Cilt: 11 Sayı: 2

Kaynak Göster

APA Gülaşı, S., Turhan, A. H., Çelik, Y., Atıcı, A. (2011). Johanson Blizzard Sendromu. Journal of Child, 11(2), 86-89. https://doi.org/10.5222/j.child.2011.086
AMA Gülaşı S, Turhan AH, Çelik Y, Atıcı A. Johanson Blizzard Sendromu. Journal of Child. Nisan 2011;11(2):86-89. doi:10.5222/j.child.2011.086
Chicago Gülaşı, Selvi, Ali Haydar Turhan, Yalçın Çelik, ve Aytuğ Atıcı. “Johanson Blizzard Sendromu”. Journal of Child 11, sy. 2 (Nisan 2011): 86-89. https://doi.org/10.5222/j.child.2011.086.
EndNote Gülaşı S, Turhan AH, Çelik Y, Atıcı A (01 Nisan 2011) Johanson Blizzard Sendromu. Journal of Child 11 2 86–89.
IEEE S. Gülaşı, A. H. Turhan, Y. Çelik, ve A. Atıcı, “Johanson Blizzard Sendromu”, Journal of Child, c. 11, sy. 2, ss. 86–89, 2011, doi: 10.5222/j.child.2011.086.
ISNAD Gülaşı, Selvi vd. “Johanson Blizzard Sendromu”. Journal of Child 11/2 (Nisan 2011), 86-89. https://doi.org/10.5222/j.child.2011.086.
JAMA Gülaşı S, Turhan AH, Çelik Y, Atıcı A. Johanson Blizzard Sendromu. Journal of Child. 2011;11:86–89.
MLA Gülaşı, Selvi vd. “Johanson Blizzard Sendromu”. Journal of Child, c. 11, sy. 2, 2011, ss. 86-89, doi:10.5222/j.child.2011.086.
Vancouver Gülaşı S, Turhan AH, Çelik Y, Atıcı A. Johanson Blizzard Sendromu. Journal of Child. 2011;11(2):86-9.