2014 NSGC: Homocystinuria Diagnosed by Whole Exome Sequencing in Siblings 123 from an Isolated Central American Village

A family from an isolated Central American village presented to medical care during a humanitarian visit by physicians from the Dartmouth-Hitchcock Medical Center. Examination revealed two children, similarly affected by developmental delays, intellectual disability, and dysmorphic features of unknown etiology. A younger sibling was beginning to display similar symptoms, but it was unclear whether this was related to the presentation of the older siblings. Access to previous laboratory work and medical records was limited.