Johanson-blizzard syndrome.

Indian pediatrics

PubMedID: 23778732

Godbole K, Maja S, Leena H, Martin Z. Johanson-blizzard syndrome. Indian Pediatr. 2013;50(5):510-2.
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.