Results 41 to 50 of about 2,768 (208)

Computed tomography findings of Crouzon syndrome: A case report

Radiology Case Reports, 2022
Crouzon syndrome is a genetic condition characterized by a premature fusion of skull sutures resulting in head and facial deformities. Crouzon syndrome is usually suspected at birth through physical examination or in the antenatal period via ...
Juan Guillermo Arámbula Neira, MD, Valeria del Castillo Herazo, MD, Nury Tatiana Rincón Cuenca, MD, Angélica M. Sanabria Cano, MD, Maryi Fernanda Bermudez Sarmiento, MD, María F. Castro, MD, Andrés Felipe Herrera Ortiz, MD   +6 more
doaj   +1 more source

Genetic Landscape of Robin Sequence: A Systematic Review

Clinical Genetics, Volume 109, Issue 2, Page 218-232, February 2026.
This systematic review summarizes the genetic landscape of Robin sequence (RS), highlighting key differences between isolated and non‐isolated forms and emphasizing the role of up‐to‐date genetic testing for diagnosis and clinical management. ABSTRACT Robin sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis, and upper ...
Shirley van de Velde, Aebele B. Mink van der Molen, Augusta M. A. Lachmeijer, Daan de Leijer, Jeroen J. Smits, Maarten P. G. Massink, Sarah L. Versnel, Marie‐José H. van den Boogaard, Emma C. Paes   +8 more
wiley   +1 more source

Imaging diagnosis of Crouzon syndrome in two cases confirmed on genetic studies - with a brief review

Indian Journal of Radiology and Imaging, 2019
Crouzon syndrome is the most common form of craniofacial dysostosis, characterised by a classical triad of abnormal skull shape, abnormal facies, and exophthalmos. The clinically overt dental abnormalities in these patients, distracts clinicians from the
Shabnam Bhandari Grover, Aanchal Bhayana, Hemal Grover, Seema Kapoor, Harish Chellani   +4 more
doaj   +1 more source

The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort

Clinical Genetics, Volume 109, Issue 1, Page 188-193, January 2026.
This study expands the clinical spectrum of Miller syndrome by reporting novel features including preaxial defects, facial nevus simplex, and optic atrophy. It also includes the first patients with homozygous DHODH variants, emphasizing the importance of early diagnosis and the variability of presentations, from severe prenatal to mild adult phenotypes.
Marion Aubert Mucca, Perrine Brunelle, Martine Doco Fenzy, Clémence Vanlerberghe, Anne Dieux, Laura Feyereisen, Florence Jobic, Laurence Lode, Gwenael Le Guyader, Florence Petit, Elise Schaefer, Khaoula Zaafrane‐Khachnaoui, Alban Ziegler, Olivier Patat   +13 more
wiley   +1 more source

tp53-dependent and independent signaling underlies the pathogenesis and possible prevention of Acrofacial Dysostosis–Cincinnati type

, 2018
Ribosome biogenesis is a global process required for growth and proliferation in all cells, but disruptions in this process surprisingly lead to tissue-specific phenotypic disorders termed ribosomopathies.
Kristin E N Watt, Cynthia L Neben, Paul A Trainor, Shawn Hall, Amy E Merrill   +4 more
core   +1 more source

Hyoid Bone Position and Head Posture in Patients With Richieri-Costa Pereira Syndrome (EIF4A3 Mutations)

, 2020
Robin sequence with cleft mandible and limb anomalies, known as Richieri-Costa-Pereira syndrome (RCPS), is an autosomal recessive acrofacial dysostosis characterized by mandibular cleft and other craniofacial anomalies and respiratory complications.
Dalben, Gisele da Silva, Richieri-Costa, Antonio, Pinto, Rayane de Oliveira [UNESP], Peixoto, Adriano Porto, Pinto, Ary Dos Santos [UNESP], Raveli, Dirceu Barnabé [UNESP], Tonello, Cristiano   +6 more
core   +1 more source

Human interparietal bones: Examination of existing classification schemes and development of a graphic library depicting variations

The Anatomical Record, Volume 308, Issue 12, Page 3186-3196, December 2025.
Examples from the graphic library depicting morphologies of interparietal bones, ossicles at lambda, mendosal sutures, and intrasutural ossicles. Abstract Due to its complex ossification during development, the superior region of the human occipital bone is a frequent site of supernumerary bones known as interparietal bones.
Melissa D. Clarkson, Rhian R. Dunn, Joseph T. Hefner, Holly A. Long, Micayla C. Spiros   +4 more
wiley   +1 more source

A Brief Analysis on Clinical Severity of Mandibulofacial Dysostosis Guion-Almeida Type

, 2022
Objective: Genetic variants in EFTUD2 were proven to influence variable phenotypic expressivity in mandibulofacial dysostosis Guion-Almeida type (MFDGA) or mandibulofacial dysostosis with microcephaly (MFDM).
Istifiani, Lola Ayu, Shodry, Syifaus, Ayudianti, Prida, Soraya, Gita Vita, Herawangsa, Sarah, Tse, William Ka Fai, Pamungkas, Syafrizal Aji, Ulhaq, Zulvikar Syambani, Arisanti, Ditya, Kusuma, Muhammad A’raaf Sirojan, Idaiani, Sri, Nurputra, Dian Kesumapramudya, Dini, Badariyatud, Astari, Lina Fitria, Hasan, Yuliono Trika Nur   +14 more
core  

Withdrawal of Continuous Positive Airway Pressure Therapy after Malar Advancement and Le Fort II Distraction in a Case of Apert Syndrome with Obstructive Sleep Apnea

Case Reports in Otolaryngology, 2015
Apert syndrome is a congenital syndrome characterized by craniosynostosis and craniofacial dysostosis, among other features, and is reported to cause obstructive sleep apnea (OSA) because of upper airway narrowing associated with midfacial dysplasia.
Nobuto Onda, Shintaro Chiba, Hiroto Moriwaki, Rika Sawai, Akira Yoshigoe, Subaru Watanabe, Yuji Ando, Ryo Uchida, Takeshi Miyawaki, Kota Wada   +9 more
doaj   +1 more source

Assessment of a novel variation in DHODH gene causing Miller syndrome: The first report in Chinese population

Molecular Genetics & Genomic Medicine, 2023
Background Miller syndrome is a rare type of postaxial acrofacial dysostosis caused by biallelic mutations in the DHODH gene, which is characterized mainly by craniofacial malformations of micrognathia, orofacial clefts, cup‐shaped ears, and malar ...
Kai Yang, Li‐Man Fu, Xiao‐Yang Chu, Jing Zhang, Wen‐Qi Chen, You‐Sheng Yan, Yi‐Peng Wang, Dong‐Liang Zhang, Cheng‐Hong Yin, Qing Guo   +9 more
doaj   +1 more source