Metabolic Screening in Patients With Donnai-Barrow Syndrome

Metabolic Screening in Patients With Donnai-Barrow Syndrome

This study focuses on the genetics and metabolism of Donnai-Barrow Syndrome (DBS).

The purpose of this study is to better understand the role of certain nutrients and vitamins in promoting the healthy development of individuals with Donnai-Barrow Syndrome. The investigators hope that the information gained by studying the metabolism of children with Donnai-Barrow Syndrome and their family members will lead to significant advances in the treatment of this disease.

Inclusion Criteria:

All individuals affected with Donnai-Barrow Syndrome