Johanson-Blizzard syndrome presenting as chronic diarrhoea

MeSH terms

• Anus, Imperforate / diagnosis*
• Diagnosis, Differential
• Diarrhea / diagnosis*
• Ectodermal Dysplasia / diagnosis*
• Fatal Outcome
• Female
• Growth Disorders / diagnosis*
• Hearing Loss, Sensorineural / diagnosis*
• Humans
• Hypothyroidism / diagnosis*
• Infant
• Intellectual Disability / diagnosis*
• Nose / abnormalities*
• Pancreatic Diseases / diagnosis*