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.
CITATION STYLE
Godbole, K., Maja, S., Leena, H., & Martin, Z. (2013). Johanson-Blizzard syndrome. Indian Pediatrics, 50(5), 510–512. https://doi.org/10.5222/j.child.2011.086
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