Acrocephalosyndactylias are syndromes characterized by abnormalities of the head (craniosynostosis), the face (hypertelorism, retromaxillism), hands and feet (cutaneous or bony syndactyly). Inheritance is autosomal dominant, but spontaneous cases are described also. The group is divided into several syndromes with varying penetrance and expressivity. As an example of an acrocephalosyndactylia is the Pfeiffer syndrome presented.
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FGFR2 directs inhibition of WNT signaling to regulate anterior fontanelle closure during skull development.
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Center for Craniofacial Molecular Biology, Department of Biomedical Sciences, Ostrow School of Dentistry, University of Southern California, Los Angeles, CA 90033, USA.
The calvarial bones of the infant skull are linked by transient fibrous joints known as sutures and fontanelles, which are essential for skull compression during birth and expansion during postnatal brain growth. Genetic conditions caused by pathogenic variants in FGFR2, such as Apert, Pfeiffer, and Crouzon syndromes, result in calvarial deformities due to premature suture fusion and a persistently open anterior fontanelle (AF). In this study, we investigated how Fgfr2 regulates AF closure by leveraging mouse genetics and single-cell transcriptomics.
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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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Craniosynostosis is characterized by the premature fusion of one or more cranial sutures, which can lead to abnormal skull shape and restricted skull growth. Although most cases are present in isolation, some are associated with genetic syndromes, such as Pfeiffer, Muenke, Couzon, Apert, and others, which increases the complexity of care. Today, a spectrum of surgical options to treat craniosynostosis are available and range from traditional open cranial vault remodeling to newer and less invasive suturectomy-based techniques.
View Article and Find Full Text PDFArticle 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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