1.
Indian Pediatr
;
2013 May; 50(5): 510-512
Artículo
en Inglés
| IMSEAR
| ID: sea-169814
RESUMEN
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.