Results 61 to 70 of about 2,286 (158)

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

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

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

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

Florid cemento osseous dysplasia and dentygerous cyst in a patient with apert syndrome: A case report

Selcuk Dental Journal, 2019
Apert syndrome is a rare congenital malformation characterized by craniocinocytosis, craniofacial anomalies and symmetric syndactyly of the feet and hands.
Nazlıcan Paslı, Fatma Nihan Aksakallı, Ender İdman, M. Oğuz Borahan, Emrah Canbazoğlu, Hasan Garip, Şebnem Erçalık Yalçınkaya   +6 more
doaj  

Computed tomography assessment of Apert syndrome Avaliação da síndrome de Apert por meio da tomografia computadorizada

Brazilian Oral Research, 2004
Apert syndrome, or acrocephalosyndactyly type I, is a craniofacial dysostosis, an autosomal dominant condition characterized by severe developmental disturbances of the craniofacial region including bilateral coronal synostosis associated with midface ...
Marco Antônio Portela Albuquerque, Marcelo Gusmão Paraíso Cavalcanti   +1 more
doaj   +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

Apert syndrome: factors involved in the cognitive development Síndrome de Apert: fatores relacionados ao desenvolvimento cognitivo destes pacientes

Arquivos de Neuro-Psiquiatria, 2005
Apert syndrome is characterized by craniosynostosis, symmetric syndactyly and other systemic malformations, with mental retardation usually present.
Adriano Yacubian-Fernandes, Aristides Palhares, Alcir Giglio, Roberto C. Gabarra, Silvio Zanini, Luis Portela, Mateus Violin Silva, Gimol Bezaquen Perosa, Dagma Abramides, José Píndaro P. Plese   +9 more
doaj   +1 more source

Rapid detection of de novo P253R mutation in FGFR2 using uncultured amniocytes in a pregnancy affected by polyhydramnios, Blake's pouch cyst, and Apert syndrome

Taiwanese Journal of Obstetrics & Gynecology, 2013
Objective: To present prenatal ultrasound and molecular genetic diagnosis of Apert syndrome. Case Report: A 30-year-old, gravida 3, para 2 woman was referred for genetic counseling at 32 weeks of gestation because of polyhydramnios and craniofacial and ...
Chih-Ping Chen, Yi-Ning Su, Tung-Yao Chang, Schu-Rern Chern, Chen-Yu Chen, Jun-Wei Su, Wayseen Wang   +6 more
doaj   +1 more source

Apert′s Syndrome: A Rare Case Report

Journal of Indian Academy of Oral Medicine and Radiology, 2010
Apert′s syndrome /Acrocephalosyndactyly is a rare, congenital disorder characterized by craniosynostosis, midfacial malformations and symmetrical syndactyly. It is caused by a genetic mutation in the FGFR2 gene on chromosome 10. Although the syndrome has
Madhura Dalal, Naresh C Soni
doaj