Emergence of a Genetic Diagnosis: Case Presentation of a Preterm Infant with Cardiofaciocutaneous Syndrome.

Background:Advanced prenatal screening and diagnostic testing have increased the number of newborns born with a confirmed diagnosis. Not all infants, however, are born with a known diagnosis. In fact, for some conditions, physical findings evolve over time and diagnosis can be further delayed because of premature birth. Purpose:This article shares a case report of a dysmorphic preterm infant admitted to the intensive care nursery for routine care. The emergence of physical findings as the baby matured during the first weeks of life and the stepwise, diagnostic approach used to confirm a rare genetic condition, cardiofaciocutaneous (CFC) syndrome, is provided. Case Findings/Results:Key physical differences apparent at birth prompted screening for several genetic syndromes and a number of inborn errors of metabolism. As the phenotype emerged, a type of RASopathy entered the differential, the most likely of which was CFC syndrome. Implications for Practice:Although CFC syndrome is rare, the combined incidence rate of RASopathies is greater, and as such, providers should be familiar with such conditions. Classic features may not be apparent in preterm infants so providers must remain astute to physical changes and communicate them with genetic consultants. Implications for Research:Gaining a better understanding of how providers can best support parents through the lengthy, diagnostic odyssey of genetic testing is important. In addition, ongoing research is needed to try to identify a genotype–phenotype correlation for CFC syndrome to guide patient surveillance and provide prognostic information to parents.