Important considerations in the initial clinical evaluation of the dysmorphic neonate

Patroula Smpokou, Brendan Lanpher, Kenneth N. Rosenbaum

Research output: Contribution to journalArticle

1 Citation (Scopus)

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. 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.

Original languageEnglish (US)
Pages (from-to)248-252
Number of pages5
JournalAdvances in Neonatal Care
Volume15
Issue number4
DOIs
StatePublished - Aug 1 2015
Externally publishedYes

Fingerprint

Rare Diseases
Physical Examination
Communication
Inborn Genetic Diseases
Palliative Care
Research
Decision Making
Population
Wells syndrome

Keywords

  • dysmorphic features
  • dysmorphic neonate
  • Dysmorphism
  • genetic evaluation
  • genetic syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Important considerations in the initial clinical evaluation of the dysmorphic neonate. / Smpokou, Patroula; Lanpher, Brendan; Rosenbaum, Kenneth N.

In: Advances in Neonatal Care, Vol. 15, No. 4, 01.08.2015, p. 248-252.

Research output: Contribution to journalArticle

Smpokou, Patroula ; Lanpher, Brendan ; Rosenbaum, Kenneth N. / Important considerations in the initial clinical evaluation of the dysmorphic neonate. In: Advances in Neonatal Care. 2015 ; Vol. 15, No. 4. pp. 248-252.
@article{2dbeb202f2524e5696d3010be093c0b1,
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. 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.",
keywords = "dysmorphic features, dysmorphic neonate, Dysmorphism, genetic evaluation, genetic syndrome",
author = "Patroula Smpokou and Brendan Lanpher and Rosenbaum, {Kenneth N.}",
year = "2015",
month = "8",
day = "1",
doi = "10.1097/ANC.0000000000000216",
language = "English (US)",
volume = "15",
pages = "248--252",
journal = "Advances in Neonatal Care",
issn = "1536-0903",
publisher = "Lippincott Williams and Wilkins",
number = "4",

}

TY - JOUR

T1 - Important considerations in the initial clinical evaluation of the dysmorphic neonate

AU - Smpokou, Patroula

AU - Lanpher, Brendan

AU - Rosenbaum, Kenneth N.

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 - dysmorphic features

KW - dysmorphic neonate

KW - Dysmorphism

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

VL - 15

SP - 248

EP - 252

JO - Advances in Neonatal Care

JF - Advances in Neonatal Care

SN - 1536-0903

IS - 4

ER -