Johanson-blizzard syndrome

Indian Pediatr. 2013 May 8;50(5):510-2.

Abstract

We present clinical features and genetic diagnosis in an Indian infant diagnosed with Johanson- Blizzard syndrome. This is a rare, autosomal recessive genetic condition with multi-system involvement and a characteristic facies. Molecular genetic testing is important to confirm the clinical diagnosis and offer prenatal diagnosis in future pregnancies.

Publication types

  • Case Reports

MeSH terms

  • Anus, Imperforate / diagnosis*
  • Anus, Imperforate / genetics
  • Ectodermal Dysplasia / diagnosis*
  • Ectodermal Dysplasia / genetics
  • Female
  • Genetic Testing
  • Growth Disorders / diagnosis*
  • Growth Disorders / genetics
  • Hearing Loss, Sensorineural / diagnosis*
  • Hearing Loss, Sensorineural / genetics
  • Humans
  • Hypothyroidism / diagnosis*
  • Hypothyroidism / genetics
  • India
  • Infant, Newborn
  • Intellectual Disability / diagnosis*
  • Intellectual Disability / genetics
  • Nose / abnormalities*
  • Pancreatic Diseases / diagnosis*
  • Pancreatic Diseases / genetics

Supplementary concepts

  • Johanson Blizzard syndrome