Results 21 to 30 of about 1,813 (126)
A unique case of prenatal diagnosis of vascular Ehlers‐Danlos syndrome
International Journal of Gynecology &Obstetrics, Volume 172, Issue 2, Page 1258-1260, February 2026.Abstract We present a rare instance of prenatal diagnosis of vEDS without a family history. The suspicion of a genetic syndrome arose from an incidental ultrasound finding of a facial anomaly—previously associated with vEDS in adulthood but never described prenatally.
Emma Bertucci +5 more
wiley +1 more source
Journal of Small Animal Practice, Volume 67, Issue 2, Page 105-111, February 2026.Objectives This study aimed to examine the association between pterygoid bone medialisation and treatment outcomes after upper airway surgery in three brachycephalic breeds. Materials and Methods Dogs that underwent CT of the head followed by routine surgery for brachycephalic obstructive airway syndrome were recruited in this study.
S. L. Yuen +3 more
wiley +1 more source
Orthodontics &Craniofacial Research, Volume 29, Issue 1, Page 1-11, February 2026.ABSTRACT Crouzon and Apert syndromes are rare syndromic craniosynostoses frequently associated with craniofacial and dental anomalies, including tooth agenesis. Although individual studies have reported tooth agenesis prevalence data in specific populations, no attempts have been made to systematically synthesise these data.
M. Cecilia Becerril Santos +3 more
wiley +1 more source
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 +8 more
wiley +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
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 +8 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 +8 more
wiley +1 more source
Prenatal Diagnosis, Volume 45, Issue 11, Page 1433-1441, October 2025.ABSTRACT Objectives Achondroplasia is the most common form of skeletal dysplasia and is usually suspected in the third trimester of pregnancy based on abnormal sonographic findings. Non‐invasive prenatal diagnosis (NIPD), based on the detection of pathogenic FGFR3 variants in maternal plasma, provides an accurate genetic confirmation.
Camille Verebi +12 more
wiley +1 more source
World Journal of Surgery, Volume 49, Issue 10, Page 2794-2800, October 2025.Studies focusing on disease severity and reconstructive surgical treatment's impact on health‐related quality of life (HRQOL) are lacking, particularly in low‐ and middle‐income countries (LMICs). This study aims to assess the impact of reconstructive surgery‐related conditions on basic indicators of quality of life and social integration within the ...
Shireen Dumont +6 more
wiley +1 more source
Crouzon syndrome with strabismus
Asian Journal of Surgery, 2021 Jing He +3 more
openaire +3 more sources