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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.
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Bone Formation by Intramembranous Ossification01:29

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Intramembranous ossification is one of the two processes involved in the development of bones within an embryo. The flat bones of the face, most of the cranial bones, and the clavicles are formed via this process. During intramembranous ossification, the bones develop directly from sheets of undifferentiated mesenchymal connective tissue.
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Cranial Bones: Lateral View01:27

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The lateral view of the cranium is dominated by temporal, sphenoid, and ethmoid bones.
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Cranial Bones: Superior and Posterior View01:14

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The superior view of the cranium shows the frontal and paired parietal bones.
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Bone Formation by Endochondral Ossification01:24

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Bone formation, or ossification, begins around the sixth to seventh week of embryonic development. Most bones develop from a cartilaginous template through the process of endochondral ossification. Cartilage formation begins when clusters of mesenchymal cells differentiate into chondrocytes. These chondrocytes proliferate rapidly and secrete an extracellular matrix that becomes encased in a membrane called the perichondrium. The resulting cartilage model provides a template that resembles the...
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Changes in the Appendicular Skeleton with Age01:09

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The upper and lower limb initially develops as a small bulge called a limb bud, which appears on the lateral side of the early embryo. The upper limb bud appears near the end of the fourth week of development, with the lower limb bud appearing shortly after.
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Related Experiment Video

Updated: Mar 22, 2026

Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
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Ellis Van Creveld2 is Required for Postnatal Craniofacial Bone Development.

Mohammed K Badri1,2, Honghao Zhang3, Yoshio Ohyama1

  • 1Department of Molecular and Cell Biology, Henry M. Goldman School of Dental Medicine, Boston University, Boston, Massachusetts.

Anatomical Record (Hoboken, N.J. : 2007)
|April 20, 2016
PubMed
Summary

Ellis-van Creveld syndrome, caused by EVC2 gene mutations, leads to significant craniofacial bone defects. Evc2 deficiency in mice resulted in reduced bone length and altered facial structure, confirming its role in development.

Keywords:
EVC2Ellis-van Creveld syndromecephalometric analysiscraniofacial boneknockout (KO) mouse

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Area of Science:

  • Genetics
  • Developmental Biology
  • Craniofacial Biology

Background:

  • Ellis-van Creveld (EvC) syndrome is a genetic disorder linked to mutations in EVC or EVC2 genes.
  • Clinical observations suggest EvC patients exhibit craniofacial bone phenotypes, necessitating further investigation into the underlying genetic causes.

Purpose of the Study:

  • To determine if EVC2 gene mutations cause craniofacial bone phenotypes.
  • To establish a cause-effect relationship between Evc2 deficiency and craniofacial defects in EvC syndrome.

Main Methods:

  • Generation of Evc2 knockout (KO) mice (wild type, heterozygous, and homozygous).
  • Cephalometric analysis of lateral X-ray radiographs from 1-, 3-, and 6-week-old mice.
  • Statistical analysis of linear and angular bone measurements to compare genotypes and time points.

Main Results:

  • Evc2 KO mice exhibited significantly reduced craniofacial bone length (approx. 20%) compared to wild type and heterozygous mice.
  • Nasal bone, palatal length, and premaxilla growth were notably affected, with defects intensifying at later postnatal stages (3 and 6 weeks).
  • KO mice displayed altered craniofacial morphology, including depressed cranial vault and nasal bones, and a more ventral orientation of the premaxilla and mandible.

Conclusions:

  • Evc2 is essential for normal craniofacial bone development.
  • Evc2 deficiency leads to specific craniofacial growth defects, establishing a direct link to EvC syndrome phenotypes.