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Prenatal diagnosis of chromothripsis causing complex chromosomal rearrangement involving chromosomes 5, 7 and 11 leading to TWIST1 deletion and Saethre-Chotzen syndrome.
Taiwan J Obstet Gynecol
January 2025
Gynecology and Obstetrics Clinic "Narodni front", Belgrade, Serbia; Faculty of Medicine, University of Belgrade, Belgrade, Serbia.
Objective: Prenatal detection of complex chromosomal rearrangements (CCR) is extremely rare, but is of great clinical importance, since CCR can be causative of different congenital disorders. We present an exceptionally rare case of prenatally diagnosed Saethre-Chotzen syndrome (SCS) rising as a consequence of chromothripsis involving chromosomes 5, 7 and 11 and deletion of TWIST1 gene.
Case Report: Brachycephaly, hypertelorism, flat face, micrognathia, relative macroglossia and small posterior fossa were noted on ultrasound examination at 28th gestational week.
Intraoperative Skull Fracture During Halo Application in Subcranial Le Fort III: Strategies for Managing a Rare Complication.
J Craniofac Surg
January 2025
Division of Pediatric Craniofacial Surgery, Nemours Children's Health, Jacksonville, FL.
External rigid distraction is an established method for achieving subcranial Le Fort III advancement in severe syndromic craniosynostosis. Craniofacial surgeons commonly use halo-type devices for these corrections, as they allow for multiple vectors of pull and facilitate larger midfacial advancements. Although most complications related to their use involve pin displacement or infection, rare complications such as skull fractures have been reported.
View Article and Find Full Text PDFApert syndrome in a 3-month-old male infant.
Asian J Surg
December 2024
Department of Faculty Surgery, St. Petersburg State University, Saint Petersburg, 199106, Russia; Department of General Surgery, Shandong Linglong Yingcheng Hospital, Zhaoyuan, Yantai, China. Electronic address:
Structural basis for Rab23 activation and a loss-of-function mutation in Carpenter syndrome.
J Biol Chem
January 2025
Department of Chemistry, Hong Kong Baptist University, Kowloon Tong, Hong Kong, China. Electronic address:
Article Synopsis
- * Mutations in Rab23, such as M12K, C85R, and Y79del, occur within its GTPase domain and affect its function, but the exact activation mechanisms and how these mutations lead to disease are not fully understood.
- * High-resolution crystal structures of human Rab23 and the Y79del mutant have been determined, showing that the deletion leads to structural changes that disrupt its interactions with partners, contributing to its loss of function in Carpenter Syndrome.
Article Synopsis
- Pfeiffer syndrome (PS) is a rare genetic disorder affecting facial and limb bones, with the most severe forms being types 2 and 3.
- In this case, a 10-year-old boy with PS type 2 needed dental surgery under general anesthesia, and special care was taken due to his Chiari malformation to avoid neck hyperextension.
- The anesthesia team used a combination of sevoflurane and nitrous oxide for induction and opted for oral intubation instead of nasotracheal intubation, successfully managing the procedure with no complications.
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