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Johanson Blizzard Sendromu

Year 2011, Volume: 11 Issue: 2, 86 - 89, 01.04.2011

Selvi Gülaşı Ali Haydar Turhan Yalçın Çelik Aytuğ Atıcı

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

Abstract

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

Keywords

Johanson-Blizzard sendromu ektodermal displazi burun kanadı aplazisi

References

  • 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

Year 2011, Volume: 11 Issue: 2, 86 - 89, 01.04.2011

Selvi Gülaşı Ali Haydar Turhan Yalçın Çelik Aytuğ Atıcı

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

Abstract

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

Keywords

Johanson-Blizzard syndrome ectodermal dysplastic disorder aplasia of alae nasi

References

  • 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
There are 9 citations in total.

Details

Primary Language Turkish
Journal Section Research Articles
Authors

Selvi Gülaşı This is me

Ali Haydar Turhan This is me

Yalçın Çelik This is me

Aytuğ Atıcı This is me

Publication Date April 1, 2011
Published in Issue Year 2011 Volume: 11 Issue: 2

Cite

APA Gülaşı, S., Turhan, A. H., Çelik, Y., Atıcı, A. (2011). Johanson Blizzard Sendromu. Çocuk Dergisi, 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. Çocuk Dergisi. April 2011;11(2):86-89. doi:10.5222/j.child.2011.086
Chicago Gülaşı, Selvi, Ali Haydar Turhan, Yalçın Çelik, and Aytuğ Atıcı. “Johanson Blizzard Sendromu”. Çocuk Dergisi 11, no. 2 (April 2011): 86-89. https://doi.org/10.5222/j.child.2011.086.
EndNote Gülaşı S, Turhan AH, Çelik Y, Atıcı A (April 1, 2011) Johanson Blizzard Sendromu. Çocuk Dergisi 11 2 86–89.
IEEE S. Gülaşı, A. H. Turhan, Y. Çelik, and A. Atıcı, “Johanson Blizzard Sendromu”, Çocuk Dergisi, vol. 11, no. 2, pp. 86–89, 2011, doi: 10.5222/j.child.2011.086.
ISNAD Gülaşı, Selvi et al. “Johanson Blizzard Sendromu”. Çocuk Dergisi 11/2 (April 2011), 86-89. https://doi.org/10.5222/j.child.2011.086.
JAMA Gülaşı S, Turhan AH, Çelik Y, Atıcı A. Johanson Blizzard Sendromu. Çocuk Dergisi. 2011;11:86–89.
MLA Gülaşı, Selvi et al. “Johanson Blizzard Sendromu”. Çocuk Dergisi, vol. 11, no. 2, 2011, pp. 86-89, doi:10.5222/j.child.2011.086.
Vancouver Gülaşı S, Turhan AH, Çelik Y, Atıcı A. Johanson Blizzard Sendromu. Çocuk Dergisi. 2011;11(2):86-9.