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Related Concept Videos

The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

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Sutures of the Skull01:22

Sutures of the Skull

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Cranial Bones: Lateral View01:27

Cranial Bones: Lateral View

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Cranial Bones: Superior and Posterior View01:14

Cranial Bones: Superior and Posterior View

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Point and Frameshift Mutations

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Related Experiment Video

Updated: May 10, 2026

Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans
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Published on: September 8, 2023

Bilateral coronal craniosynostosis with novel TWIST1 mutation.

Haven Ward1, Sahar Borna2, Rose Meltzer3

  • 1Department of Surgery, AdventHealth, Orlando, FL, USA.

Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery
|May 8, 2026
PubMed
Summary

A novel TWIST1 gene variant caused severe syndromic craniosynostosis in an infant, presenting complex craniofacial and multisystem anomalies. This case underscores the importance of genetic testing for precise diagnosis and surgical planning in craniosynostosis.

Keywords:
TWIST1Posterior vault distraction osteogenesisSaethre-Chotzen syndromeSyndromic craniosynostosis

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

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Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
08:03

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

Published on: November 4, 2025

Area of Science:

  • Genetics
  • Pediatric Surgery
  • Craniofacial Surgery

Background:

  • Syndromic craniosynostosis involves premature suture fusion and multisystem anomalies.
  • TWIST1 gene variants contribute to diverse phenotypes and impact surgical strategies.
  • Understanding genetic heterogeneity is crucial for managing craniosynostosis.

Purpose of the Study:

  • To report a severe syndromic craniosynostosis case with a novel TWIST1 variant.
  • To discuss perioperative management of staged cranial vault reconstruction.
  • To highlight the genotypic and phenotypic variability in TWIST1-related craniosynostosis.

Main Methods:

  • Case report of a female infant with craniofacial dysmorphism and multisuture craniosynostosis.
  • Genetic testing identified a novel TWIST1 missense variant (c.423C>G; p.Asp141Glu).
  • Staged surgical interventions included strip craniectomy and posterior vault distraction osteogenesis (PVDO) with virtual planning.

Main Results:

  • The infant presented with hypertelorism, micrognathia, cleft palate, limb anomalies, and cardiovascular/respiratory issues.
  • Postoperative complications included respiratory failure, cardiac arrest, intracranial abscess, and pseudomeningocele.
  • The novel TWIST1 variant expanded the known spectrum of disease-associated alterations.

Conclusions:

  • This case demonstrates significant genotypic and phenotypic variability in TWIST1 alterations.
  • Emphasizes the need for genetic investigation to identify pathogenic variants.
  • Highlights the importance of genetic findings for prognostication and surgical planning in complex craniosynostosis.