Results 81 to 90 of about 5,244 (207)

Apert's syndrome.

Indian journal of dermatology, venereology and leprology, 2007
Apert's syndrome (acrocephalosyndactyly) is a rare congenital disorder characterized by craniosynostosis, mid-facial malformations and symmetrical syndactyly. We present a 2-month-old girl having features of Apert's syndrome, with cerebral cortical atrophy and bifurcation of the right first metatarsal base, a hitherto undescribed finding.
Amiya Kumar Mukhopadhyay, Debjani Mukherjee   +1 more
openaire   +1 more source

Absence of Syndactyly Associated With the Common Apert FGFR2 S252W Mutation: A Clinical Report and Likely Molecular Explanation

American Journal of Medical Genetics Part A, Volume 200, Issue 1, Page 215-222, January 2026.
ABSTRACT Apert syndrome is a recognizable craniofacial condition characterized by craniosynostosis, hypertelorism, exorbitism, midface hypoplasia, and complex symmetrical bony and cutaneous ‘mitten’ syndactyly of all four limbs. Around 98% of affected patients have one of two heterozygous missense variants in the FGFR2 gene, encoding either p ...
Ramy Saad, Claire Lawn, Honor Gartland, Louisa Steel, Caitlin Barns‐Jenkins, Greg James, Eleanor Hay, Andrew O. M. Wilkie, Louise C. Wilson   +8 more
wiley   +1 more source

Apert Syndrome With FGFR2 758 C > G Mutation: A Chinese Case Report

Frontiers in Genetics, 2018
Background: Apert syndrome is considered as one of the most common craniosynostosis syndromes with a prevalence of 1 in 65,000 individuals, and has a close relationship with point mutations in FGFR2 gene.Case report: Here, we described a Apert syndrome ...
Yahong Li, Dingyuan Ma, Yun Sun, Lulu Meng, Yanyun Wang, Tao Jiang   +5 more
doaj   +1 more source

Prenatal Exome Sequencing Analysis in Fetuses With Structural Anomalies: A Multicenter Prospective Cohort Study With Practical Implications

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, Haibo Li, Xiangyu Zhu, Liangpu Xu, Ying Chang, Fengqun Dong, Jianping Xiao, Jian Gao, Minyue Dong, Ying Peng, Hua Jin, Ting Wang, Xiaoxiao Xie, Lin Zhang, Hongmei Zhuang, Na Hao, Xiya Zhou, Hongna Wang, Ying You, Kun Ma, Rui Xiao, Qingwei Qi   +21 more
wiley   +1 more source

Congenital malformations [PDF]

, 2012
Congenital malformations are single or multiple defects of the morphogenesis of organs or body districts identifiable at birth or during the intrauterine life. Their global birth prevalence is about 2–3%.
CORSELLO, Giovanni, GIUFFRE, Mario
core   +1 more source

The influence of closed sutures on cranial morphology in Apert and Crouzon syndromes: A quantitative analysis

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, Lyza Ben Bouazza, Adèle Rohée Traoré, Mathieu Uguen, Nathalie Boddaert, David Germanaud, Jean‐François Mangin, Giovanna Paternoster, Maxime Taverne, Roman Hossein Khonsari   +9 more
wiley   +1 more source

Orbital causes of incomitant strabismus [PDF]

, 2015
Strabismus may result from abnormal innervation, structure, or function of the extraocular muscles. Abnormalities of the orbital bones or masses within the orbit may also cause strabismus due to indirect effects on the extraocular muscles.
Lueder, Gregg T
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, Lauren Mills, Amanda Nikho, Marouane Tliba, Halil Ayyildiz, Veerasathpurush Allareddy, Rashid Ansari, Ahmet Enis Cetin, Mohammed H. Elnagar   +8 more
wiley   +1 more source

Prenatally Diagnosed Beare‐Stevenson Cutis Gyrata Syndrome With a Novel FGFR2 Variant

Prenatal Diagnosis, Volume 46, Issue 4, Page 589-592, April 2026.
Haley M. Crane, Rose Giardine, Alanna Strong, K. Taylor Wild, Elaine Zackai, Lorraine Dugoff, Teresa N. Sparks, Beverly Coleman, Julie S. Moldenhauer   +8 more
wiley   +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, Normand Boucher, Chun‐Hsi Chung, Chenshuang Li   +3 more
wiley   +1 more source