TY - JOUR
T1 - Important considerations in the initial clinical evaluation of the dysmorphic neonate
AU - Smpokou, Patroula
AU - Lanpher, Brendan C.
AU - Rosenbaum, Kenneth N.
N1 - Publisher Copyright:
Copyright © 2015 National Association of Neonatal Nurses. Unauthorized reproduction of this article is prohibited.
PY - 2015/8/1
Y1 - 2015/8/1
N2 - 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. Purpose: 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. Findings/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. Implications for Practice: 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. Implications for Research: 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.
AB - 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. Purpose: 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. Findings/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. Implications for Practice: 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. Implications for Research: 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.
KW - Dysmorphism
KW - dysmorphic features
KW - dysmorphic neonate
KW - genetic evaluation
KW - genetic syndrome
UR - http://www.scopus.com/inward/record.url?scp=84942807476&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84942807476&partnerID=8YFLogxK
U2 - 10.1097/ANC.0000000000000216
DO - 10.1097/ANC.0000000000000216
M3 - Article
C2 - 26225593
AN - SCOPUS:84942807476
SN - 1536-0903
VL - 15
SP - 248
EP - 252
JO - Advances in Neonatal Care
JF - Advances in Neonatal Care
IS - 4
ER -