Abstract

Abstract Respiratory distress in the premature neonate has a variety of causes, some more common than others. Sometimes it may not be apparent that rare underlying conditions may be associated with common clinical presentations. In this case report, we describe an extremely premature neonate presenting with severe respiratory distress who was subsequently diagnosed with both myotonic dystrophy and Turner syndrome (monosomy X; 45, X0). A literature review correlating this neonate’s particular presentation with these diagnoses has been included.

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