Eponym: Johanson-Blizzard syndrome
| Autor: | Zhifeng Liu, Martin Zenker, Nima Rezaei, Mozhgan Sabbaghian |
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| Rok vydání: | 2010 |
| Předmět: |
Pathology
medicine.medical_specialty Eponyms Hearing loss Hearing Loss Sensorineural Ubiquitin-Protein Ligases Oligodontia Deafness Nose Anus Imperforate Hypothyroidism Pathognomonic Ectodermal Dysplasia Intellectual Disability medicine Humans Abnormalities Multiple Exocrine pancreatic insufficiency Child Growth Disorders business.industry Pancreatic Diseases Aplasia medicine.disease Hypoplasia Johanson–Blizzard syndrome Pediatrics Perinatology and Child Health Sensorineural hearing loss Exocrine Pancreatic Insufficiency medicine.symptom business |
| Zdroj: | European journal of pediatrics. 170(2) |
| ISSN: | 1432-1076 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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