Pfeiffer syndrome (PS) is a classic type of craniosynostosis syndrome. Severe cases usually require emergency care at birth. However, early diagnosis is often precluded by the rarity and consequent low awareness of this disease. This study aimed to clarify phenotypic expressions useful for the diagnosis of PS. We reviewed all cases of PS type 2 or 3 according to Cohen's classification that were reported between 1980 and 2011 in Japan. Clinical and genetic information were extracted from the patients' medical records. A total of 23 patients with PS type 2 or 3 were identified. All 23 patients presented with craniosynostosis, midface hypoplasia, proptosis, broad thumbs, and wide great toes. FGFR2 mutations were confirmed in all 8 patients in whom genetic analyses were performed. In addition to classic symptoms, elbow ankylosis and sacrococcygeal defects were present in 70% and 30% of the patients, respectively. During an average follow-up of 22 months, 22% of patients died before 1 year of age. Elbow ankylosis and sacrococcygeal defects were the phenotypic features recognizable at a glance. These defects strongly suggest the presence of PS in newborns with craniosynostosis.
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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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