Eponym Johanson-Blizzard syndrome
- نوع فایل : کتاب
- زبان : انگلیسی
- مؤلف : Nima Rezaei & Mozhgan Sabbaghian & Zhifeng Liu & Martin Zenker
- چاپ و سال / کشور: 2011
Description
Johanson-Blizzard syndrome is a very rare autosomal recessive disorder caused by mutations in the Ubiquitin-Protein Ligase E3 Component N-Recognin 1 (UBR1) gene. The syndrome is characterized by exocrine pancreatic insufficiency and a wide range of additional clinical features, including aplasia or hypoplasia of the alae nasi, oligodontia, sensorineural hearing loss, hypothyroidism, scalp defects, mental retardation, and developmental delay.Several other abnormalities in different organs, particularly anorectal, urogenital, and cardiac anomalies have been reported since the first description of this syndrome four decades ago. UBR1 gene defects are underlying the disease. Only symptomatic treatment is available. Exocrine pancreas insufficiency plus abnormal alae nasi is pathognomonic for Johanson-Blizzard syndrome.
Eur J Pediatr (2011) 170:179–183 Received: 24 April 2010 / Accepted: 2 June 2010 / Published online: 17 June 2010
