Malrotation of Gut and Hiatus Hernia in a Child with Familial Dyskeratosis Congenita.

Dyskeratosis congenita (DKC) is a rare inherited genodermatosis. We report familial occurrence of the disease. The index patient 12 years old had all classical features of DKC. There are 4 other siblings in the family suffering from similar disease. In additions to the features of DKC, the index patient presented with pain abdomen and vomiting. On investigation he had malrotation of gut and hiatus hernia. To the best of our knowledge this is being documented for the first time in association with DKC.