Johanson Blizzard Syndrome

Gülaşı, Selvi; Turhan, Ali; Çelik, Yalçın; Atıcı, Aytuğ

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

Case Report

DOI :10.5222/j.child.2011.086 IUP :10.5222/j.child.2011.086 Full Text (PDF)

Johanson Blizzard Syndrome

Selvi Gülaşı, Ali Haydar Turhan, Yalçın Çelik, Aytuğ Atıcı

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, hypothyroidism, congenital heart defects, pancreatic insufficiency, anal atresia, and congenital deafness. A newborn -diagnosed 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

DOI :10.5222/j.child.2011.086 IUP :10.5222/j.child.2011.086 Full Text (PDF)

Johanson Blizzard Sendromu

Selvi Gülaşı, Ali Haydar Turhan, Yalçın Çelik, Aytuğ Atıcı

Johanson Blizzard Sendromu (JBS) ender görülen; burun kanatlarının yokluğu veya az gelişmişliği, dişte yapısal bozukluklar, orta hat deri defektleri, büyüme ve zekâ geriliği, 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 vakada JBS düşünülmüş ve ender rastlanması nedeniyle sunulmuştur.

Keywords: Johanson-Blizzard sendromu, ektodermal displazi, burun kanadı aplazisi

References

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APA

Gülaşı, S., Turhan, A.H., Çelik, Y., & Atıcı, A. (2011). Johanson Blizzard Syndrome. Journal of Child, 11(2), 86-89. https://doi.org/10.5222/j.child.2011.086

AMA

Gülaşı S, Turhan A H, Çelik Y, Atıcı A. Johanson Blizzard Syndrome. Journal of Child. 2011;11(2):86-89. https://doi.org/10.5222/j.child.2011.086

ABNT

Gülaşı, S.; Turhan, A.H.; Çelik, Y.; Atıcı, A. Johanson Blizzard Syndrome. Journal of Child, [Publisher Location], v. 11, n. 2, p. 86-89, 2011.

Chicago: Author-Date Style

Gülaşı, Selvi, and Ali Haydar Turhan and Yalçın Çelik and Aytuğ Atıcı. 2011. “Johanson Blizzard Syndrome.” Journal of Child 11, no. 2: 86-89. https://doi.org/10.5222/j.child.2011.086

Chicago: Humanities Style

Gülaşı, Selvi, and Ali Haydar Turhan and Yalçın Çelik and Aytuğ Atıcı. “Johanson Blizzard Syndrome.” Journal of Child 11, no. 2 (Aug. 2025): 86-89. https://doi.org/10.5222/j.child.2011.086

Harvard: Australian Style

Gülaşı, S & Turhan, AH & Çelik, Y & Atıcı, A 2011, 'Johanson Blizzard Syndrome', Journal of Child, vol. 11, no. 2, pp. 86-89, viewed 12 Aug. 2025, https://doi.org/10.5222/j.child.2011.086

Harvard: Author-Date Style

Gülaşı, S. and Turhan, A.H. and Çelik, Y. and Atıcı, A. (2011) ‘Johanson Blizzard Syndrome’, Journal of Child, 11(2), pp. 86-89. https://doi.org/10.5222/j.child.2011.086 (12 Aug. 2025).

MLA

Gülaşı, Selvi, and Ali Haydar Turhan and Yalçın Çelik and Aytuğ Atıcı. “Johanson Blizzard Syndrome.” Journal of Child, vol. 11, no. 2, 2011, pp. 86-89. [Database Container], https://doi.org/10.5222/j.child.2011.086

Vancouver

Gülaşı S, Turhan AH, Çelik Y, Atıcı A. Johanson Blizzard Syndrome. Journal of Child [Internet]. 12 Aug. 2025 [cited 12 Aug. 2025];11(2):86-89. Available from: https://doi.org/10.5222/j.child.2011.086 doi: 10.5222/j.child.2011.086

ISNAD

Gülaşı, Selvi - Turhan, AliHaydar - Çelik, Yalçın - Atıcı, Aytuğ. “Johanson Blizzard Syndrome”. Journal of Child 11/2 (Aug. 2025): 86-89. https://doi.org/10.5222/j.child.2011.086

Volume 11, Issue 22011, P. 86-89

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Published Online

30.12.2011

Journal of Child

Case Report

Johanson Blizzard Syndrome

Johanson Blizzard Sendromu

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