Craniofacial Malformation

Craniofacial malformation refers to an abnormality in the formation or structure of the face and skull, ranging from isolated differences to complex congenital conditions that can affect breathing, feeding, speech, vision, or hearing. These abnormalities arise when cranial neural crest cells, facial prominences, and related tissues fail to migrate, proliferate, fuse, or differentiate correctly during embryonic development; genetic changes and prenatal exposures can disrupt these processes. In pharmacology, studying craniofacial malformation helps identify developmental toxicants, evaluate medication safety during pregnancy, and clarify molecular pathways involved in craniofacial development. Such knowledge supports risk assessment, prevention, diagnosis, and treatment planning.

Craniofacial Malformation - Related Videos

Research

JoVE Journal - Biology
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Electroporation of Craniofacial Mesenchyme

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2011

Craniofacial cartilages develop in close contact with other tissues and are difficult to manipulate in live animals. We are using electroporation to deliver molecular tools during growth of the craniofacial skeleton while bypassing early embryonic effects. This approach will allow us to efficiently test candidate molecules in vivo.

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JoVE EoE - Neuropathology

Immunostaining of Mouse Craniofacial Tissues

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2025

This video demonstrates the immunofluorescence staining of cryosections from mouse embryonic craniofacial tissues, using fluorescence microscopy to assess nuclear marker expression and determine cell proliferation and signaling activity.

Open Surgical Resection of Cerebral Arteriovenous Malformations

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2025

Source: Rennert, R. C., et al. Comprehensive Endovascular and Open Surgical Management of Cerebral Arteriovenous Malformations. J. Vis. Exp. (2017).This video demonstrates the open surgical resection of a cerebral arteriovenous malformation (AVM) in a human brain. The procedure involves creating a bone flap, accessing the subarachnoid space, identifying and occluding feeding arteries and draining veins, and carefully removing the AVM. Intraoperative angiography confirms complete resection,...

Cre-LoxP Mediated Induction of Cerebral Cavernous Malformations in a Mouse Model

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2025

In this video, a genetically modified mouse pup carrying the Ccm2 gene flanked by loxP sites and Cre recombinase fused to an estrogen receptor is used to induce cerebral cavernous malformations (CCMs). The administration of 4-hydroxytamoxifen activates Cre in endothelial cells, leading to the deletion of Ccm2 and the formation of CCMs in the brain.

Comprehensive Endovascular and Open Surgical Management of Cerebral Arteriovenous Malformations

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Cited by 4 •

2017

Surgery is the gold standard for accessible arteriovenious malformations (AVMs), and pre-operative embolization can simplify this procedure. We describe our approach for staged endovascular embolization and open resection of AVMs, and provide a representative clinical example highlighting the advantages of a comprehensively trained neurovascular surgeon leading a multi-disciplinary clinical team.

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