Displacement of Brain Regions in Preterm Infants With Non-Synostotic Dolichocephaly Investigated by MRI [PDF]
Regional investigations of newborn MRI are important to understand the appearance and consequences of early brain injury. Previously, regionalization in neonates has been achieved with a Talairach parcellation, using internal landmarks of the brain. Non-synostotic dolichocephaly defines a bi-temporal narrowing of the preterm infant's head caused by ...
Gloria B McAnulty +2 more
exaly +5 more sources
There is an increased interest in the problem of helping children with skull deformities that occur due to premature closure of cranial sutures and the development of craniosynostosis.
S. S. Gaibov +2 more
doaj +2 more sources
De Novo GLI2 Missense Variant in a Child With Isolated Hypopituitarism and Craniofacial Anomalies: Expanding the Phenotypic Spectrum [PDF]
Background Culler–Jones syndrome (CJS) is an autosomal dominant disorder characterized by hypopituitarism, postaxial polydactyly, and craniofacial anomalies, associated with pathogenic GLI2 variants.
Himanshu Goel, Katrina Harrison
doaj +2 more sources
Smartphone 3D Scanning Technology and 3D Semi-Synthetic Data for Processing Infant Head Deformities Using Artificial Intelligence [PDF]
Background: Early assessment of cranial deformities in newborns, such as plagiocephaly, brachycephaly, dolichocephaly, turricephaly, and trigonocephaly, requires precise and non-invasive methods.
Omar C. Quispe-Enriquez +1 more
doaj +2 more sources
Spontaneous Vertebral Artery Dissection as the Heralding Manifestation of Previously Undiagnosed Marfan Syndrome in a Young Adult with Posterior Circulation Stroke: A Case Report [PDF]
Background and Clinical Significance: Marfan syndrome (MFS) is an autosomal-dominant connective-tissue disorder caused by pathogenic FBN1 variants. Aortic-root dilation and dissection are the canonical complications, whereas spontaneous vertebral artery ...
Alawi M. Alkhadrawi +4 more
doaj +2 more sources
Craniosynostosis in Siblings, an Extremely Rare Occurrence: A Case Report [PDF]
Craniosynostosis (CS) is the premature fusion of skull sutures, with all sutures except the metopic suture typically fusing in adulthood. Premature fusion constrains brain growth, leading to abnormal skull shape and potential neurocognitive or ...
Tirth Bhavsar +2 more
doaj +2 more sources
On Ectopia Cordis With Omphalocele With Dolichocephaly With Kyphosis
Ectopia cordis is a rare and severe congenital anomaly characterized by the abnormal positioning of the heart outside the thoracic cavity. It is frequently associated with midline defects, such as omphalocele and vertebral anomalies, leading to high perinatal mortality.
Parul Jaiswal, Prashant Suryarao
exaly +2 more sources
Aphallia in a patient with 9q34 duplication syndrome: a case report [PDF]
Introduction Congenital aphallia is a rare condition with less than 100 documented cases. It may occur isolated or in association with additional anomalies such as gastrointestinal malformations, caudal defects, imperforate anus, and other genitourinary ...
Juan Pablo Meza-Espinoza +9 more
doaj +2 more sources
New Pathogenic Variant in the GLI3 Gene in the First Colombian Patient Associated With Pallister‐Hall Syndrome: A Clinical Report [PDF]
Background Pallister‐Hall syndrome (PHS) is an extremely rare genetic disorder. It presents as a polymalformative syndrome affecting craniofacial structures, the central nervous system, limbs, various internal organs, and the endocrine system.
Sebastián Bonilla‐Navarrete +5 more
doaj +2 more sources
Agreement and Screening Performance of an App-Based Cranial Shape Assessment Tool Compared With a 3D Scanner in Municipal Child Health Checkups in Japan: Instrument Validation Study [PDF]
BackgroundPositional cranial deformities are common in infancy. Smartphone-based apps are increasingly used to assess infant head shape, but evidence comparing these tools with 3D scanners across age groups in community-based settings remains limited.
Yui Honda +6 more
doaj +2 more sources

