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| http://dx.doi.org/10.4103/1817-1745.131499 | DOI Listing |
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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.
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Prolonged Ventilator Dependency in a Pediatric ICU Patient With Pfeiffer Syndrome Following Le Fort I Osteotomy and Distraction Osteogenesis: A Case Report.
Cureus
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Anesthesiology, University of Texas Medical Branch, Galveston, USA.
Pfeiffer syndrome is a rare autosomal dominant disorder characterized by craniosynostosis and midface hypoplasia, often leading to significant airway challenges and respiratory complications during anesthesia management. This case report describes a four-year-old female with Pfeiffer syndrome who underwent Le Fort I osteotomy with distraction osteogenesis and concurrent ventriculoperitoneal shunt revision. Postoperatively, the patient experienced an extended pediatric ICU (PICU) stay with complex airway management, requiring prolonged mechanical ventilation and sedation.
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- 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.
Neurological symptoms in pediatric abusive head trauma: Multi-center data for clinical forensic medicine.
Forensic Sci Int
December 2024
Institute of Legal Medicine, University Hospital Bonn, University of Bonn, Bonn, Germany. Electronic address:
Central nervous system-associated lesions can frequently be found in abusive head trauma (AHT) cases. Since there are frequently no visible signs of injury on the body surface, the diagnosis of AHT can be challenging. In particular, if the affected child shows only isolated neurological symptoms, these are often misinterpreted as a minor illness.
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