Selvi GÜLAŞI, Ali Haydar TURHAN, Yalçın ÇELİK, Aytuğ ATICI

Johanson Blizzard Sendromu

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

Johanson Blizzard Syndrome

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,

PDF

___

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