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Related Concept Videos

Sutures of the Skull01:22

Sutures of the Skull

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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...
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Cranial Bones: Lateral View01:27

Cranial Bones: Lateral View

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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...
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Cranial Bones: Superior and Posterior View01:14

Cranial Bones: Superior and Posterior View

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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,...
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Cranial and Spinal Meninges01:19

Cranial and Spinal Meninges

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The cranial and spinal meninges are complex protective structures surrounding the central nervous system (CNS), consisting of the brain and spinal cord. These meninges consist of the dura mater, the arachnoid mater, and the pia mater. They protect the CNS, provide structural support, and aid in circulating cerebrospinal fluid (CSF).
Cranial Meninges
These meningeal layers cover the cranium. The dura mater is the outermost layer of cranial meninges. It is a thick and durable membrane of dense...
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Related Experiment Video

Updated: Mar 8, 2026

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

Published on: November 4, 2025

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Genetic advances in craniosynostosis.

Wanda Lattanzi1,2, Marta Barba1, Lorena Di Pietro1

  • 1Institute of Anatomy and Cell Biology, Università Cattolica del Sacro Cuore, Rome, Italy.

American Journal of Medical Genetics. Part A
|February 5, 2017
PubMed
Summary

Nonsyndromic craniosynostosis (NCS) is a birth defect where skull sutures fuse early. Research is exploring genetic and environmental factors, alongside neurodevelopmental and treatment aspects of NCS.

Keywords:
craniofacialcraniosynostosisgene mutationsmalformationskull sutures

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Area of Science:

  • Genetics
  • Developmental Biology
  • Pediatric Medicine

Background:

  • Craniosynostosis is a congenital anomaly affecting 1 in 2,500 births, characterized by premature fusion of skull sutures.
  • Nonsyndromic craniosynostosis (NCS) accounts for the majority of cases, with largely unknown genetic and environmental causes.
  • Syndromic craniosynostosis, comprising 25-30% of cases, results from chromosomal defects or gene mutations.

Purpose of the Study:

  • To provide a comprehensive review of genetic and environmental factors in NCS.
  • To integrate recent scientific findings from the past decade.
  • To focus on neurodevelopmental, imaging, and treatment aspects of NCS.

Main Methods:

  • Literature review and synthesis of recent scientific findings.
  • Analysis of genetic and environmental etiological factors.
  • Review of neurodevelopmental outcomes, imaging techniques, and treatment strategies.

Main Results:

  • Recent data suggest potential two-locus inheritance for some midline NCS cases.
  • Genetic and environmental etiologies for NCS remain largely unidentified.
  • The review integrates current knowledge on NCS pathogenesis and clinical management.

Conclusions:

  • Further research is needed to elucidate the genetic and environmental causes of NCS.
  • Understanding NCS requires integrating genetic, developmental, and clinical perspectives.
  • Comprehensive management of NCS involves addressing neurodevelopmental and surgical considerations.