Results 51 to 60 of about 13,286 (221)

Craniosynostosis genetics: The mystery unfolds

, 2011
Craniosynsostosis syndromes exhibit considerable phenotypic and genetic heterogeneity. Sagittal synostosis is common form of isolated craniosynostosis. The sutures involved, the shape of the skull and associated malformations give a clue to the specific ...
Panigrahi, Inusha
core   +2 more sources

Essential embryology for the Canadian pathologists’ assistant

Anatomical Sciences Education, EarlyView.
Abstract Pathologists' assistants (PAs) are pivotal in healthcare, conducting autopsies and examining tissues under a pathologist's guidance. Embryology knowledge is crucial for PAs to accurately assess anomalies and identify pathologies. Yet, it is often overlooked in academic PA training programs.
Samantha H. Nacci, William Tsui, Fang‐I Lu, Avrum I. Gotlieb, Danielle C. Bentley   +4 more
wiley   +1 more source

Craniosynostosis of coronal suture in Twist1+/- mice occurs through endochondral ossification recapitulating the physiological closure of posterior frontal suture

Frontiers in Physiology, 2011
Craniosynostosis, the premature closure of cranial suture, is a pathologic condition that affects 1/2000 live births. Saethre-Chotzen syndrome is a genetic condition characterized by craniosynostosis.
Bjorn eBehr, Michael T Longaker, Natalina eQuarto, Natalina eQuarto   +3 more
doaj   +1 more source

Identification of major congenital malformations based on healthcare databases in France: A proof‐of‐concept study using the epi‐meres nationwide mother–child register

British Journal of Clinical Pharmacology, EarlyView.
Abstract Aim Besides registries, healthcare databases can provide useful information for assessing the frequency of major congenital malformations (MCMs) and investigating their risk factors, particularly medication exposures. This study aimed to assess the validity of MCMs identification based on French national, comprehensive healthcare databases ...
Tom Duchemin, Lise Marty, Jérôme Drouin, Sara Miranda, Jérémie Botton, Valérie Olié, Alain Weill, Rosemary Dray‐Spira   +7 more
wiley   +1 more source

Chiari malformation associated with craniosynostosis

, 2011
Object Chiari malformation (CM) Type I is frequently associated with craniosynostosis. Optimal management of CM in patients with craniosynostosis is not well-established.
Steven R. Buchman, Jennifer Strahle, Cormac O. Maher, Karin M. Muraszko, Joseph Kapurch, Hugh J. L. Garton   +5 more
core   +1 more source

Heterozygous Med13l mice recapitulate a developmental growth delay and craniofacial anomalies seen in MED13L syndrome

Developmental Dynamics, EarlyView.
Abstract Background Gene transcription is crucial for embryo and postnatal development and is regulated by the Mediator complex. Mediator is comprised of four submodules, including the kinase submodule (CKM). The CKM consists of MED13, MED12, CDK8, and CCNC.
Anna K. Leinheiser, Timothy T. Nguyen, Kayla M. Henry, Mariela Rosales, Eric Van Otterloo, Chad E. Grueter   +5 more
wiley   +1 more source

Frontofacial Features of Unilateral Lambdoid Craniosynostosis: A Multicenter Assessment

Plastic and Reconstructive Surgery, Global Open, 2023
Background:. Unilateral lambdoid craniosynostosis is differentiated from deformational plagiocephaly primarily by assessing the cranium from posterior and bird’s-eye views.
Jonathan Lee, MD, Sanjay Naran, MD, Daniel Mazzaferro, MD, Ari Wes, MD, Erin E. Anstadt, MD, Jesse Taylor, MD, Jesse Goldstein, MD, Scott Bartlett, MD, Joseph Losee, MD   +8 more
doaj   +1 more source

Loss of Twist1 leads to disruption of ciliary length, endocytic vesicle dynamics, and cell–cell junctions during neural tube formation

Developmental Dynamics, EarlyView.
Abstract Background Endocytosis constitutes a fundamental cellular process governing development through coordinated regulation of plasma membrane remodeling and ciliogenesis, processes essential for cell shape changes and tissue development. Although Twist1 null embryos display complete cranial neural tube (NT) closure defects and conditional knockout
Derrick Thomas, Brittany M. Hufft‐Martinez, Zarna Lalwani, Vi Pham, Mary Elmeniawi, An J. Tran, Jianming Xu, Irfan Saadi, Walid D. Fakhouri   +8 more
wiley   +1 more source

The management of perioperative pain in craniosynostosis repair: a systematic literature review of the current practices and guidelines for the future

Maxillofacial Plastic and Reconstructive Surgery, 2022
Background Craniosynostosis is a condition characterized by a premature fusion of one or more cranial sutures. The surgical repair of craniosynostosis causes significant pain for the child.
Hatan Mortada, Raghad AlKhashan, Nawaf Alhindi, Haifa B. AlWaily, Ghada A. Alsadhan, Saad Alrobaiea, Khalid Arab   +6 more
doaj   +1 more source

Craniosynostosis: a radiographic review [PDF]

Craniosynostosis is a common pediatric condition defined by the premature fusion of cranial sutures and is known to cause visually distinct cranial abnormalities.
Agtarap, Jason, Nickerson, Joshua
core   +1 more source