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Updated: Mar 15, 2026

Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
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Overgrowth Syndromes.

Andrew C Edmondson1, Jennifer M Kalish1

  • 1Division of Human Genetics, Children's Hospital of Philadelphia and Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, United States.

Journal of Pediatric Genetics
|September 13, 2016
PubMed
Summary
This summary is machine-generated.

This review details multiple malformation syndromes causing pathologic overgrowth, explaining their molecular bases, intellectual outcomes, and cancer risks. It covers key overgrowth disorders like Sotos and Beckwith-Wiedemann syndrome.

Keywords:
Bannayan–Riley–RuvalcabaBeckwith–WiedemannMalanMarshall–SmithPI3K-relatedPerlmanProteusSimpson–Golabi–BehmelSotosovergrowth syndrome

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Area of Science:

  • Genetics
  • Pediatrics
  • Medical Genetics

Background:

  • Pathologic overgrowth syndromes present complex clinical challenges.
  • Understanding the molecular underpinnings of these conditions is crucial for diagnosis and management.

Purpose of the Study:

  • To review characteristic features of multiple malformation syndromes associated with pathologic overgrowth.
  • To elucidate the molecular bases, intellectual outcomes, and cancer predispositions of these syndromes.

Main Methods:

  • Literature review of described overgrowth syndromes.
  • Synthesis of current knowledge on molecular genetics, clinical features, and associated risks.

Main Results:

  • Detailed descriptions of numerous overgrowth syndromes including Sotos, Beckwith-Wiedemann, and Proteus syndrome.
  • Elucidation of the molecular mechanisms underlying various overgrowth conditions.
  • Assessment of intellectual outcomes and cancer predispositions for affected individuals.

Conclusions:

  • Significant progress has been made in understanding the molecular basis of overgrowth syndromes.
  • Further research is needed to fully comprehend the long-term outcomes and management strategies for these complex genetic disorders.