Results 31 to 40 of about 2,768 (208)

Patient with Crouzon Syndrome Treated with Modified Le Fort III Osteotomy without Previous Orthodontic Treatment: Case Report and a Review of the Literature

Case Reports in Dentistry, 2020
Crouzon syndrome is the most common type of craniofacial dysostosis anomaly which presents a great challenge for clinicians since birth. Multiple synostoses in the sutures of the cranial base in this syndrome result in the hypoplasia of the midface ...
Farnoosh Mohammadi, Afrooz Javanmard, Hamid Mojtahedi   +2 more
doaj   +1 more source

Posterior vault distraction osteogenesis in Apert syndrome

Archives of Pediatric Neurosurgery, 2022
Apert syndrome is an uncommon autosomal dominant condition with a varied clinical spectrum which includes  premature cranial and facial suture fusion and complex upper and lower limb syndactilies.
Cassio Raposo-Amaral, Cesar Augusto Raposo-Amaral, Enrico Ghizoni   +2 more
doaj   +1 more source

Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11.

, 1996
A contiguous gene syndrome due to deletions of the proximal short arm of chromosome 11 is described in eight patients belonging to four families. The main clinical features are multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and ...
Bartsch, Oliver, Van Hul, Wim, Zabel, Bernard, Willems, Patrick J., Werner, Walter, Hogue, Debra, Hinkel, Georg K., Powell, Cynthia M., Wuyts, Wim, Meinecke, Peter, Shaffer, Lisa G., Hecht, Jacqueline T.   +11 more
core   +1 more source

Cousin Syndrome Due to TBX15 Gene Variants: Three Novel Cases and Review of the Literature

Clinical Genetics, EarlyView.
Cousin syndrome (MIM#260660) is a rare recognizable genetic disorder characterized by short stature, pelvi‐scapular dysplasia, and craniofacial dysmorphism due to biallelic pathogenic variants in the TBX15 gene. ABSTRACT Cousin syndrome (MIM#260660) is a rare genetic disorder characterized by short stature, pelvi‐scapular dysplasia and craniofacial ...
Wafaa Alharbi, Abdul A. Peer‐Zada, Abeer S. Alaqidi, Corinne Collet, Capucine Coulon, Aziza Mushiba, Florence Petit   +6 more
wiley   +1 more source

Treacher Collins Syndrome (mandibulofacial dysostosis) – A case report [PDF]

Romanian Journal of Neurology
Background. Treacher-Collins Syndrome (TCS) (or mandibulofacial dysostosis) is a rare autosomal dominant genetic disorder involving 1st and 2nd branchial arches present with craniofacial deformities with variable expressivity.
Praveen Sharma, Ajina Sam, Iffath Misbah, Prajwal M.N.   +3 more
doaj   +1 more source

Evaluation of a Facial Dysmorphology Analysis Algorithm (Face2Gene) in Identifying Treacher Collins Syndrome Amongst Diverse Population

Orthodontics &Craniofacial Research, EarlyView.
ABSTRACT Background Treacher Collins Syndrome (TCS) is an uncommon congenital disease of the craniofacial complex. While there are ‘classic’ facial manifestations of TCS, they present with a wide range of variability. Face2Gene (F2G) is a deep‐learning algorithm that can provide differential diagnoses of syndromes via analysis of 2‐dimensional facial ...
Jie Han Timothy Sng, Jonas Jun Jie Hue, Josep Rubio‐Palau   +2 more
wiley   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 780-818, May 2026.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction

, 2015
We report three individuals with a cranioskeletal malformation syndrome that we define as acrofacial dysostosis, Cincinnati type. Each individual has a heterozygous mutation in POLR1A, which encodes a core component of RNA polymerase 1.
König, Rainer, Sund, Kristen L., Lohmann, Dietmar R., Wieczorek, Dagmar, Hehr, Ute, Hopkin, Robert J., Bender, Patricia L., Hufnagel, Robert B., Navajas Acedo, Joaquin, Lourenco, Charles M., Saal, Howard M., Trainor, Paul A., Watt, Kristin E. Noack, Weaver, K. Nicole, Linscott, Luke L.   +14 more
core   +1 more source

Pathways to enhancing prenatal diagnosis of skeletal dysplasias

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Skeletal dysplasias are a group of Mendelian disorders that variably alter the development of the musculoskeletal system and phenotypically range from mild short stature syndromes to severe perinatal or neonatal morbidity. Prenatal diagnosis of these conditions can be challenging due to the lack of precision with ultrasound imaging compared to
Michelle Joy Wang, Christina Jacobsen, Jennifer Arnold, Ronald J. Wapner, Deborah Krakow   +4 more
wiley   +1 more source

MODERN VIEWS REGARDING THE ETIOPATHOGENESIS, DIAGNOSTIC, TREATMENT AND PREVENTION OF APERT SYNDROME

Медична наука України, 2020
Relevance. Acrocephalosyndactyly – a group of syndromes of multiple congenital malformations (MCM), the main components of which are acrocephaly and syndactyly. The most common nosological form of this group is Apert syndrome.
V.V. Antsupva, I.V. Lastivka, D.V. Kolubakin, I.A. Ushko, О.V. Nahornyi   +4 more
doaj   +1 more source