Results 131 to 140 of about 32,206 (257)

Effects of Smoothened Agonist Exposure on Murine Craniofacial Development. [PDF]

Int Dent J
Mao C, Jiang Y, Li Z, Zhou W, Lai Y, Wang C, Lu M, Chen W.   +7 more
europepmc   +1 more source

Diffuse cranial vault hyperostosis associated with long‐term antiepileptic therapy: Autopsy findings and differential diagnostic considerations

Journal of Forensic Sciences, EarlyView.
Abstract Diffuse cranial vault hyperostosis is an uncommon finding and may present a diagnostic challenge in clinical and forensic practice. We report the case of a 53‐year‐old woman with a long‐standing history of epilepsy treated with phenytoin and sodium valproate who collapsed at home suddenly and died despite resuscitative efforts.
Maria Piagkou, Athina Tousia, George Triantafyllou, Dimitrios Vlachodimitropoulos, Samer Al Besher, Panagiotis Manolarakis‐Papadopoulos, Alexandros Samolis, Stavroula Papadodima   +7 more
wiley   +1 more source

Long-term CPAP treatment for OSA in pycnodysostosis: A 15-year longitudinal follow-up of a patient. [PDF]

Respir Med Case Rep
Bouhamdi A, Chefchaou Y, Benjelloun M, Labyad S, Abida A, Souirti Z, Abourazzak S, Tizniti S, Serraj M, Amara B, Benjelloun MC, Elbiaze M.   +11 more
europepmc   +1 more source

Neonatal Diamond‐Blackfan anemia with persistent neutropenia caused by an RPS15A variant

Pediatric Investigation, EarlyView.
Hong Zheng, Kaimei Wang, Jian Wang, Jianpei Fang, Dunhua Zhou, Kunyin Qiu   +5 more
wiley   +1 more source

Hox Gene Variation Drives Morphological Specialization of Humpback Grouper Cromileptes altivelis

Integrative Zoology, EarlyView.
Cromileptes altivelis exhibits a distinctive “sunken head and humpback” morphology, formed through cranial remodeling. Genetic analyses identified unique amino acid variants in Hoxa7a and Hoxa10b, with functional tests confirming their role in enhancing osteoblast activity and driving cranial remodeling.
Xiaoying Cao, Zhaowei Zhong, Lisheng Wu, Quanyin Liu, Shaoxiong Ding   +4 more
wiley   +1 more source

Vascular Mechanisms in the Etiology of Hemifacial Microsomia: A Systematic Review of Epidemiological, Clinical, and Genetic Evidence. [PDF]

Birth Defects Res
Jacobs K, Baramakeh A, van der Meer H, Korfage H, de Bakker B, Langenbach G, Oostra RJ, Lobbezoo F.   +7 more
europepmc   +1 more source

Spectrum of Congenital Malformations in Sex Chromosome Tetrasomies and Pentasomies: A Systematic Review

Andrology, EarlyView.
ABSTRACT Sex chromosome aneuploidies represent a heterogeneous group of chromosomal conditions, in which phenotypic complexity generally increases with the number of supernumerary sex chromosomes. While Turner syndrome and sex chromosome trisomies are relatively well characterized, less is known about congenital malformations in sex chromosome ...
Anna Colding, Jannie Traberg, Inger Lily Hjuler Dorf, Anne Skakkebæk   +3 more
wiley   +1 more source

Signalling Pathways and Mechanical Forces Interact in Craniofacial Development and Homeostasis. [PDF]

Int Dent J
Chen Y, Feng X, Wu H, Duan Y, Han Y, Yu M.   +5 more
europepmc   +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

Accessory Auricle (Polyotia) in a Pediatric Patient: A Rare Congenital Anomaly. [PDF]

Cureus
Khakholia N, Gogoi G, Deka B.
europepmc   +1 more source