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Genetic Disorders: Recognition and (Yes!) Therapy

Genetic Disorders: Recognition and (Yes!) Therapy

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 A is a term newborn with hypertonia and several anomalies, including cleft lip/palate, bilateral postaxial polydactyly, and penile chordee. His family and gestational histories are unremarkable.

 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.

Case C shows the pedigree of a newborn who appeared normal at birth. She deteriorated on day 2 of life (laboratory test values are shown). A sibling also died in the newborn period.


Do you recognize these disorders? (Diagnoses appear on the next page.)


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