Results 41 to 50 of about 6,877 (168)

Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A Variants

Clinical Genetics, Volume 110, Issue 3, Page 325-335, September 2026.
SEMA6A plays a role in cell migration and axon guidance in the developing central nervous system. Phenotypes seen in eleven individuals heterozygous for SEMA6A variants included developmental delay, intellectual disability, autism/autistic behaviors, behavioral abnormalities, attention disorders, hypotonia, and brain anomalies.
Evan Burchfiel, Xiaonan Zhao, Nichole M. Owen, Tia Gordon, Mahshid S. Azamian, Eric C. Kao, Fan Xia, Xi Luo, Jill A. Rosenfeld, Seema R. Lalani, Allison P. Ortega, Steven B. Bleyl, Florence Petit, Sulekha Rajagopolan, Bénédicte Demeer, Meredith K. Gillespie, Lijia Huang, Matthew Osmond, Kym M. Boycott, Kyra E. Stuurman, Marjon A. van Slegtenhorst, Haley Soller, Céline Jost, Aurore Garde, Hana Safraou, Laurence Faivre, Victor Faundes, Daryl A. Scott   +27 more
wiley   +1 more source

Patient outcomes in KCNQ2 developmental and epileptic encephalopathy

Developmental Medicine &Child Neurology, Volume 68, Issue 8, Page 1063-1071, August 2026.
Abstract The aim of this study was to review and summarize the literature describing clinically observed or caregiver‐reported and patient‐reported KCNQ2 developmental and epileptic encephalopathy (DEE) outcomes. Three online databases and selected congress proceedings were searched (August 2023).
Grant Maclaine, Michele H. Potashman, Deepshikha Pawar, Sugandh Sharma, Katja Rudell, Jason Lerner, Vlad Coric, Anne T. Berg, John Millichap, Gil L'Italien   +9 more
wiley   +1 more source

Heart Transplant for Noncompaction Cardiomyopathy in NONO‐Related Syndromic Intellectual Disability

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
Silent NONO variant c.348G>A caused exon 4 skipping, frameshift, and nonsense‐mediated decay in a boy with neurodevelopmental delay and severe left ventricular noncompaction requiring heart transplantation in early childhood. Stable graft function at 14 years highlights favorable long‐term cardiac outcome; literature review confirms a recognizable ...
Julia S. Singer, Dorota Garczarczyk‐Asim, Miriam Michel, Thomas Müller, Lukas Hackl, Andreas R. Janecke   +5 more
wiley   +1 more source

Anterior plagiocephaly with contralateral superior oblique overaction

Indian Journal of Ophthalmology, 2008
Anterior plagiocephaly is a craniofacial anomaly related to premature unilateral synostosis. We present three cases of anterior plagiocephaly with contralateral superior oblique dysfunction.
Jethani Jitendra, Dagar Abhishek, Vijayalakshmi P, Sundaresh K   +3 more
doaj  

Expanding the Phenotypic Spectrum of Degcags Syndrome: Novel Craniofacial and Oral Findings

Special Care in Dentistry, Volume 46, Issue 4, July/August 2026.
ABSTRACT Aims: Developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities (DEGCAGS) syndrome (OMIM #619488) is a rare autosomal recessive disorder caused by pathogenic variants in ZNF699 and characterized by developmental delay and multisystem involvement.
Jeferson Paiva, Lucas Batista‐Fontes, Janaína Taíza Araújo de Jesus, Kelly Fernanda Molena, Raquel Assed Bezerra da Silva, Kranya Victoria Diaz‐Serrano, Francisco Wanderley Garcia de Paula‐Silva, Alexandra Mussolino de Queiroz, Fabrício Kitazono de Carvalho   +8 more
wiley   +1 more source

Controversies Surrounding Critical‐Size Defects: Influence of Age and Biological Characteristics

Journal of Biomedical Materials Research Part B: Applied Biomaterials, Volume 114, Issue 6, June 2026.
ABSTRACT Critical‐size defects (CSDs) in craniofacial reconstruction refer to osseous gaps that fail to heal spontaneously, increasing the risk of neurological impairment and craniofacial dysmorphology. Despite decades of investigation, controversy still exists surrounding the definition of CSDs, with criteria varying across species, experimental ...
Andrew Nordlund, Hana Shah, Nicholas A. Mirsky, Kashyap K. Tadisina, Arturo J. Rios‐Diaz, Vasudev Vivekanand Nayak, Estevam A. Bonfante, Paulo G. Coelho   +7 more
wiley   +1 more source

A Rare Cause of Intrauterine Plagiocephaly within Twin Pregnancy: A Case Report

Gynecology Obstetrics & Reproductive Medicine, 2014
The word plagiocephaly is occurred from Greek for “slanted” (plagio) and “head” (kephale). Plagiocephaly describes a planar or multiplanar cranial asymmetry which can be occurred in prenatal or postnatal period.
Mustafa Ulubay, Fahri Burçin Fıratlıgil, İbrahim Alanbay, Uğur Keskin, Ulaş Fidan, Ali Ergün   +5 more
doaj  

The size and shape of the foramen magnum in man

Journal of Craniovertebral Junction and Spine, 2017
Background: The foramen magnum (FM) has garnered broad interest across the disciplines of anthropology, comparative anatomy, evolutionary biology, and clinical sciences.
Matthew J Zdilla, Michelle L Russell, Kaitlyn N Bliss, Kelsey R Mangus, Aaron W Koons   +4 more
doaj   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1098-1104, May 2026.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Paleopathological Analysis of Craniosynostosis (CS): Two Cases of Plagiocephaly from the Archaeological Site of Kayalıpınar, Sivas, Turkey

Anadolu Araştırmaları
This article describes two individuals diagnosed with craniosynostosis. The archaeological human remains were uncovered from Kayalıpınar excavations in Sivas's province in Turkey. The skeletons described here belong to the Byzantine period.
İbrahim Sarı, Sercan Acar, Ayşen Açıkkol   +2 more
doaj   +1 more source