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Related Experiment Video

Updated: Jun 5, 2026

Micro-CT Imaging and Morphometric Analysis of Mouse Neonatal Brains
06:36

Micro-CT Imaging and Morphometric Analysis of Mouse Neonatal Brains

Published on: May 19, 2023

A newborn with unusual morphology: some practical aspects.

Raoul C M Hennekam1

  • 1Department of Paediatrics and Translational Medicine, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. r.c.hennekam@amc.uva.nl

Seminars in Fetal & Neonatal Medicine
|December 28, 2010
PubMed
Summary

Diagnosing unusual newborn phenotypes requires careful family history and physical exams. Advanced genetic testing, like microarray analysis and future exome sequencing, aids in identifying abnormal causes.

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Area of Science:

  • Clinical Genetics
  • Neonatology
  • Pediatric Diagnostics

Background:

  • Unusual newborn phenotypes and malformations are frequently encountered by pediatricians.
  • Differentiating normal variations from abnormal conditions and identifying underlying causes presents diagnostic challenges.

Purpose of the Study:

  • To outline key diagnostic procedures for newborns with unusual phenotypes.
  • To emphasize the importance of clinical evaluation and advanced genetic testing.

Main Methods:

  • Detailed patient history and physical examination are foundational.
  • Clinical photography aids in collaborative case discussion.
  • Radiological surveys, organ-specific screenings (heart, kidney, eyes, hearing), and cytogenetic analyses are employed.

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State of the Art Cranial Ultrasound Imaging in Neonates
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Published on: April 7, 2023

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Last Updated: Jun 5, 2026

Micro-CT Imaging and Morphometric Analysis of Mouse Neonatal Brains
06:36

Micro-CT Imaging and Morphometric Analysis of Mouse Neonatal Brains

Published on: May 19, 2023

State of the Art Cranial Ultrasound Imaging in Neonates
10:02

State of the Art Cranial Ultrasound Imaging in Neonates

Published on: February 2, 2015

A Modified Sonographic Algorithm for Image Acquisition in Life-Threatening Emergencies in the Critically Ill Newborn
11:27

A Modified Sonographic Algorithm for Image Acquisition in Life-Threatening Emergencies in the Critically Ill Newborn

Published on: April 7, 2023

Main Results:

  • Cytogenetic analyses, particularly microarray assays, offer high diagnostic yield.
  • Comprehensive clinical evaluation remains critical for initial assessment.

Conclusions:

  • A systematic approach combining clinical assessment with advanced genetic technologies is essential for diagnosing newborns with unusual phenotypes.
  • Future integration of total exome sequencing will significantly enhance diagnostic capabilities.