Results 61 to 70 of about 5,209 (186)
Prenatal Diagnosis, Volume 46, Issue 1, Page 46-55, January 2026.ABSTRACT Objective To evaluate the diagnostic value of prenatal exome sequencing (ES) integrated with copy number variant (CNV) and single nucleotide variant (SNV) analysis (ES‐CNV/SNV) in fetuses with structural anomalies following negative chromosomal microarray analysis (CMA) and karyotyping, and to delineate the practical challenges encountered ...
Yulin Jiang +21 more
wiley +1 more source
Research advances in Apert syndrome
Journal of Oral Biology and Craniofacial Research, 2018 Apert syndrome is one of the several genetic syndromes associated with craniosynostosis, a condition that includes premature fusion of one or multiple cranial sutures.
Satrupa Das, Anjana Munshi
doaj +1 more source
Journal of Anatomy, Volume 248, Issue 1, Page 40-52, January 2026.This quantitative study identified distinct cranial vault morphologies in Apert and Crouzon syndromes, with a larger anterior fossa in Apert and high variability in Crouzon, reflecting different patterns of suture closure. Abstract Craniosynostoses are congenital conditions characterized by premature suture fusions, altering skull growth and ...
Ombline Delassus +9 more
wiley +1 more source
SURGICAL TECHNIQUE FOR COMPLEX SYNDACTYLY IN APERT SYNDROME: A SERIAL CASE
Jurnal Rekonstruksi dan Estetik, 2019 Highlights: • Complex syndactyly in Apert syndrome, particularly when complicated with synonychia and synostosis, poses a significant surgical challenge.
Williams Mesang +2 more
doaj +1 more source
Surface-bounded growth modeling applied to human mandibles [PDF]
, 2000 From a set of longitudinal three-dimensional scans of the same anatomical structure, we have accurately modeled the temporal shape and size changes using a linear shape model.
Bjarne K. Ersbøll +8 more
core +3 more sources
An Artificial Intelligence System for Staging the Spheno‐Occipital Synchondrosis
Orthodontics &Craniofacial Research, Volume 28, Issue 6, Page 998-1007, December 2025.ABSTRACT Objective The aim of this study was to develop, test and validate automated interpretable deep learning algorithms for the assessment and classification of the spheno‐occipital synchondrosis (SOS) fusion stages from a cone beam computed tomography (CBCT).
Omid Halimi Milani +8 more
wiley +1 more source
A case report describing insights into the imaging of Apert syndrome
RareApert syndrome is a rare congenital autosomal dominant acrocephalosyndactyly type I syndrome which manifests in the form of various craniofacial, skeletal, and visceral anomalies.
Diksha Goyal, Poonam Sherwani
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生物医学转化, 2021 Apert syndrome (AS) is characterized by synostosis of coronal sutures, midfacial hypoplasia,abnormity of brain, syndactyly of hands and feet. Majority of AS is caused by gain-of-function mutation of fibro‐blast growth factor receptor 2 (FGFR2).
Luo Fengtao +5 more
doaj +1 more source
A Longitudinal Cone Beam Computed Tomography Study of Mandibular Canal Changes During Growth
Orthodontics &Craniofacial Research, Volume 28, Issue 6, Page 1008-1014, December 2025.ABSTRACT Introduction The mandibular canal has been considered a stable anatomic reference structure and continues to be recognised as a primary vertical structure in 2D mandibular superimposition. However, whether the mandibular canal is stable in the transverse dimension is unclear.
Stephanie H. Chen +3 more
wiley +1 more source
Iranian Rehabilitation Journal, 2012 Apert syndrome is a genetic defect which was first described by Eugene Apert in 1906. it's incidence is approximately one in 50000 births. This syndrome is many abnormalities in your body and Central Nervous System.
Masoud Gharib, Nazila Akbar Fahimi
doaj