Year: 2011
Type: article
Study design: Case Report
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, 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.
Source: Çocuk Dergisi / Journal of Child
Authors: Selvi Gülaşı, Ali Turhan, Yalçın Çelik, Aytuğ Atıcı
Language: English
Subfield: Genetics (clinical)
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W2329370910