Achondroplasia in the Premature Infant: An Elusive Diagnosis in the Neonatal Intensive Care Unit

Abstract

Abstract Achondroplasia is a difficult prenatal diagnosis to make before the late second and third trimester. We describe two cases where an infant was born prematurely with no overt signs of achondroplasia. Despite multiple chest and abdominal radiographs during the neonatal course, the diagnosis was not made until term equivalent age was reached. We retrospectively reviewed these two cases to highlight the elusive findings of achondroplasia in the premature infant.

Keywords

• achondroplasia
• prematurity
• skeletal dysplasia