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Related Concept Videos

Overview of the Skull01:08

Overview of the Skull

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The cranium (skull) is the skeletal structure of the head that supports the face and protects the brain. It is subdivided into the facial bones and the brain case, or cranial vault. The facial bones underlie the facial structures, form the nasal cavity, enclose the eyeballs, and support the teeth of the upper and lower jaws.
The cranial vault surrounds and protects the brain and houses the middle and inner ear structures. This cavity is bounded superiorly by the rounded top of the skull, which...
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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.
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: 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 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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Neurulation01:30

Neurulation

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Neurulation is the embryological process which forms the precursors of the central nervous system and occurs after gastrulation has established the three primary cell layers of the embryo: ectoderm, mesoderm, and endoderm. In humans, the majority of this system is formed via primary neurulation, in which the central portion of the ectoderm—originally appearing as a flat sheet of cells—folds upwards and inwards, sealing off to form a hollow neural tube. As development proceeds, the...
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Muscles for Facial Expressions01:14

Muscles for Facial Expressions

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The craniofacial muscles are a collection of approximately 20 thin skeletal muscles situated beneath the skin of the face and scalp. These muscles, primarily responsible for the vast array of human facial expressions, originate from the bones or fibrous structures of the skull and extend outwards to connect with the skin. While most skeletal muscles in the body are enveloped in thick fascia, facial muscles generally have a more delicate fascial covering, with the buccinator muscle being a...
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Analysis of Craniomaxillofacial Malformations in Mice Using Three-dimensional Microcomputed Tomography
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Analysis of Craniomaxillofacial Malformations in Mice Using Three-dimensional Microcomputed Tomography

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New insights into craniofacial malformations.

Stephen R F Twigg1, Andrew O M Wilkie2

  • 1Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK stephen.twigg@imm.ox.ac.uk.

Human Molecular Genetics
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Craniofacial development involves complex genetic processes. Recent studies identify new disease genes and use animal models to understand skull and face formation, aiding in the study of congenital birth defects.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Human Anatomy

Background:

  • Human craniofacial development is a complex, genetically controlled morphogenetic process.
  • Craniofacial malformations, such as cleft lip/palate and craniosynostosis, represent over a third of all congenital birth defects.
  • Advances in high-throughput sequencing have identified numerous novel disease-causing genes.

Purpose of the Study:

  • To present recent findings in craniofacial genetics.
  • To discuss the role of identified genes in craniofacial development.
  • To explore how developmental studies in animal models enhance understanding of normal craniofacial development.

Main Methods:

  • Review of recent genetic studies in craniofacial development.
  • Analysis of functional studies clarifying gene mechanisms.
  • Integration of findings from animal model developmental studies.

Main Results:

  • Identification of multiple new genes implicated in craniofacial malformations.
  • Clarification of the molecular mechanisms underlying craniofacial development.
  • Enhanced understanding of the genetic basis for congenital birth defects affecting the skull and face.

Conclusions:

  • Recent advances in craniofacial genetics are significantly improving our understanding of normal development.
  • Genetic insights, combined with animal model studies, are crucial for deciphering complex morphogenetic processes.
  • This knowledge is vital for addressing the mechanisms behind significant congenital craniofacial anomalies.