title: Important Considerations in the Initial Clinical Evaluation of the Dysmorphic Neonate.
abstract: BACKGROUND
  The approach to clinical evaluation of the dysmorphic neonate can be challenging and multifaceted. It requires specialized knowledge of rare diagnoses and awareness of immediate versus long-term needs for the newborn and the family.
  
  
  OBJECTIVE
  This review summarizes important considerations in the initial evaluation of genetic syndromes, which can present in the neonatal period with variable aspects of dysmorphism.
  
  
  METHODS
  An overview of the literature in this area is provided.
  
  
  RESULTS
  Several overlapping areas of concern for working with this population are addressed, including communication with the family, fundamentals of the physical examination, common genetic disorders, syndromes, as well as palliative care and end of life decision making for the newborn in the context of family needs.
  
  
  CONCLUSIONS
  The initial approach for the neonatal practitioner needs to focus on various aspects of the newborn's care, including medical stabilization, determining whether immediate laboratory or imaging studies are needed, careful physical examination with particular attention to detail, appropriate and timely communication with the family, and knowledge of various specific aspects of rare diseases.
  
  
  CONCLUSIONS
  More research is needed to better understand how to best support the newborn born with dysmorphia or a rare disease. Particular attention needs to be focused on strategies to best support the family who is often in crisis during the neonatal period.
authors.affiliation: Division of Genetics & Metabolism, Children's National Health System, Washington, DC (Drs Smpokou, Lanpher, and Rosenbaum); and Department of Pediatrics, The George Washington School of Medicine & Health Sciences, Washington, DC (Drs Smpokou, Lanpher, and Rosenbaum).
authors.forename: Patroula
authors.initials: P
authors.lastname: Smpokou
authors.forename: Brendan C
authors.initials: BC
authors.lastname: Lanpher
authors.forename: Kenneth N
authors.initials: KN
authors.lastname: Rosenbaum
mesh_terms: D000015:Abnormalities, Multiple; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000523:psychology / Q000628:therapy; D006801:Humans; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000523:psychology / Q000628:therapy; D010166:Palliative Care; D011368:Professional-Family Relations