Results 61 to 70 of about 5,186 (188)

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

A case report describing insights into the imaging of Apert syndrome

Rare
Apert 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
doaj   +1 more source

Patterns of brain growth in one FGFR2 mouse model for Apert Syndrome [PDF]

, 2010
Apert syndrome is a disorder associated with craniosynostosis resulting from one of two mutations in Fibroblast Growth Factor Receptor 2 (FGFR2). Individuals with Apert syndrome demonstrate brain dysmorphology, often associated with cognitive deficits ...
Austin, Jordan, Gant, Cortaiga, Hill, Cheryl A.   +2 more
core  

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

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, Agus Santoso Budi, Magda Rosalina Hutagalung   +2 more
doaj   +1 more source

CRISPR/Cas9 mediated FGFR2 down-regulation alleviatespremature closure of cranial suture in an Apert syndromemouse model

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, Xie Yangli, Li Can, Tan Qiaoyan, Du Xiaolan, Chen Lin   +5 more
doaj   +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

Apert Syndrome: A Case Report

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  

Apert syndrome: a rare congenital anomaly and experience from a low-resource country: a case report and review of the literature

Journal of Rare Diseases
Background Apert syndrome is a congenital condition characterized by coronal craniosynostosis, ex-orbitism, midface hypoplasia as well as symmetric syndactyly of both feet and hands.
Maimuna Abdatam, Charles John Nhungo, Frank Muhamba, Ally Hamis Mwanga, Larry Akoko, Charles A. Mkony   +5 more
doaj   +1 more source

Relationships between cranial base synchondroses and craniofacial development: a review [PDF]

, 2010
: Synchondrosis is defined as the development of a union between two bones by the formation of either hyaline cartilage or fibro-cartilage. This paper reviews the relationship between cranial base synchondroses and craniofacial development.
Cendekiawan, T, Rabie, ABM, Wong, RWK
core   +1 more source