Johanson Blizzard Sendromu

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

Johanson Blizzard Syndrome

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

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