Skeletal Dysplasias in the Newborn: Diagnostic Evaluation and Developmental Genetics

Many of the genetic disorders of skeletal development lead to significant morbidity and mortality in utero or in the early neonatal period. Due to the large number and heterogeneous nature of these disorders, their diagnosis and management can be overwhelming. A basic knowledge of skeletal development and a structured, comprehensive approach to the history, physical examination, and interpretation of radiographic studies are crucial. Understanding the power and limitations of prenatal diagnostic technology and genetic testing is essential for accurate counseling and judicious use of resources. Finally, familiarity with individual disorders and online resources aids the neonatologist in coordinating the complex, multidisciplinary care that these infants demand in the neonatal intensive care unit (NICU) and after hospital discharge.