Related Experiment Video

Updated: May 16, 2026

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

Severe craniosynostosis in an infant with deletion 22q11.2 syndrome

W Al-Hertani1, V A Hastings, J McGowan-Jordan

  • 1Department of Genetics, University of Ottawa, Ottawa, Ontario, Canada.

American Journal of Medical Genetics. Part A
|December 15, 2012
PubMed

Insights

This study describes a male infant with 22q11.2 deletion syndrome and severe multi-sutural craniosynostosis, a presentation previously unreported. The findings highlight the syndrome

Area of Science:

  • Genetics
  • Pediatrics
  • Neurosurgery

Background:

  • 22q11.2 deletion syndrome is associated with diverse clinical features.
  • Craniosynostosis, the premature fusion of skull sutures, is an uncommon manifestation.
  • Typical genetic causes for craniosynostosis were excluded in this patient.

Observation:

  • A male infant presented with 22q11.2 deletion syndrome.
  • The infant exhibited severe multi-sutural craniosynostosis, increased intracranial pressure, and significant brain structure displacement.
  • Extensive skull erosion was noted.

Findings:

  • This is the first reported case of severe multi-sutural craniosynostosis in 22q11.2 deletion syndrome.
  • Standard genetic testing (SNP Microarray) and analysis for common craniosynostosis genes (FGFR2, FGFR3, TWIST) were negative.
  • The extreme presentation suggests potential novel genetic factors or co-occurring conditions.

Implications:

  • Expands the known phenotypic spectrum of 22q11.2 deletion syndrome.
  • Suggests the need for vigilance regarding severe craniosynostosis in affected infants.
  • Raises awareness for potential co-occurrence of other genetic disorders contributing to complex phenotypes.

More Related Videos

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Intrathecal Application of a Fluorescent Dye for the Identification of Cerebrospinal Fluid Leaks in Cochlear Malformation06:59

Intrathecal Application of a Fluorescent Dye for the Identification of Cerebrospinal Fluid Leaks in Cochlear Malformation

Published on: February 29, 2020

Related Concept Videos

Sutures of the Skull01:22

Sutures of the Skull

The human skull is composed of several bones that come together to protect the brain and support the structures of the face. The junctions where these bones meet are called sutures.
Sutures are immobile joints between adjacent bones of the skull. The narrow gap between the bones is filled with dense, fibrous connective tissue that unites the bones. The long sutures located between the skull bones are not straight but instead follow irregular, tightly twisting paths. These twisting lines tightly...
Meiosis I01:49

Meiosis I

Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by a...
Cranial Bones: Lateral View01:27

Cranial Bones: Lateral View

The lateral view of the cranium is dominated by temporal, sphenoid, and ethmoid bones.
The temporal bone forms the lower lateral side of the skull. The temporal bone is subdivided into several regions. The flattened upper portion is the squamous portion of the temporal bone. Below this area and projecting anteriorly is the zygomatic process of the temporal bone, which forms the posterior portion of the zygomatic arch. Posteriorly is the mastoid portion of the temporal bone. Projecting...
Cranial Bones: Superior and Posterior View01:14

Cranial Bones: Superior and Posterior View

The superior view of the cranium shows the frontal and paired parietal bones.
The frontal bone is the single bone that forms the forehead. At its anterior midline, between the eyebrows, there is a slight depression called the glabella. The frontal bone also forms the supraorbital margin of the orbit. Near the middle of this margin is the supraorbital foramen, the opening that provides passage for a sensory nerve to the forehead. The frontal bone is thickened just above each supraorbital margin,...
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,...
Nondisjunction01:21

Nondisjunction

Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers.  Nondisjunction is common during anaphase I or anaphase II of meiosis.  Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold sister...