I am happy to introduce this special supplement to Consultant for Pediatricians that highlights a new era of therapy for genetic disease. The cases here set the stage for a brief discussion of triage and testing, and for an update on management of genetic disorders—from prevention of complications to real therapy through tissue/enzyme replacement.
Your role as pediatrician is pivotal for early recognition and referral of patients with genetic disease and it is key to optimizing child development and later reproduction.1-3
Case B is a 6-year-old boy with absent speech, connective tissue laxity, and autistic behavior. His mother has learning disabilities and a maternal uncle is said to have mental retardation.
Do you recognize these disorders? (Diagnoses appear on the next page.)