• Clinical and Experimental Pediatrics
• /
• 제53권7호
• /
• pp.774-777
• /
• 2010

Pfeiffer syndrome is a rare autosomal dominant disorder characterized by coronal craniosynostosis, brachycephaly, mid-facial hypoplasia, and broad and deviated thumbs and great toes. Pfeiffer syndrome occurs in approximately 1:100,000 live births. Clinical manifestations and molecular genetic testing are important to confirm the diagnosis. Mutations of the fibroblast growth factor receptor 1 ($FGFR1$) gene or $FGFR2$ gene can cause Pfeiffer syndrome. Here, we describe a case of Pfeiffer syndrome with a novel c833_834GC>TG mutation (encoding Cys278Leu) in the $FGFR2$ gene associated with a coccygeal anomaly, which is rare in Pfeiffer syndrome.

• Journal of Korean Neurosurgical Society
• /
• 제59권3호
• /
• pp.187-191
• /
• 2016

Craniosynostosis is defined as the premature fusion of one or more of the cranial sutures. It leads not only to secondary distortion of skull shape but to various complications including neurologic, ophthalmic and respiratory dysfunction. Craniosynostosis is very heterogeneous in terms of its causes, presentation, and management. Both environmental factors and genetic factors are associated with development of craniosynostosis. Nonsyndromic craniosynostosis accounts for more than 70% of all cases. Syndromic craniosynostosis with a certain genetic cause is more likely to involve multiple sutures or bilateral coronal sutures. FGFR2, FGFR3, FGFR1, TWIST1 and EFNB1 genes are major causative genes of genetic syndromes associated with craniosynostosis. Although most of syndromic craniosynostosis show autosomal dominant inheritance, approximately half of patients are de novo cases. Apert syndrome, Pfeiffer syndrome, Crouzon syndrome, and Antley-Bixler syndrome are related to mutations in FGFR family (especially in FGFR2), and mutations in FGFRs can be overlapped between different syndromes. Saethre-Chotzen syndrome, Muenke syndrome, and craniofrontonasal syndrome are representative disorders showing isolated coronal suture involvement. Compared to the other types of craniosynostosis, single gene mutations can be more frequently detected, in one-third of coronal synostosis patients. Molecular diagnosis can be helpful to provide adequate genetic counseling and guidance for patients with syndromic craniosynostosis.

• 대한후두음성언어의학회지
• /
• 제33권1호
• /
• pp.50-53
• /
• 2022

A case is presented to show tracheal cartilaginous sleeve in Antley-Bixler syndrome, which is the second case to be reported so far. In this patient, W290C mutation in FGFR2, the mutation previously known to cause Pfeiffer syndrome, was newly identified. After receiving tracheostomy, the patient recovered from repetitive respiratory distress, and retrieved normal respiratory function. Thorough airway examination and active surgical management such as tracheostomy is necessary in children with syndromic craniosynostosis, including Antley-Bixler syndrome.

• 대한족부족관절학회지
• /
• 제10권1호
• /
• pp.84-87
• /
• 2006

Purpose: To review the results of surgical decompression for tarsal tunnel syndrome associated with calcaneus fractures. Materials and Methods: Six tarsal tunnel syndromes in five patients were surgically decompressed at our hospital with followed up of average 26.0 months (range, $12{\sim}36$ months). All patients were male and average age at surgery was 50.0 years (range, $33{\sim}69$years). All five cases developed after calcaneus fractures including one bilateral case. Clinical results were assessed according to the criteria of Pfeiffer and Cracchiolo. Results: The result was good in three cases, fair in one case and poor in two cases. Four cases in four patients were satisfied with the result of treatment. Conclusion: Clinical results of surgical treatment for tarsal tunnel syndrome associated with calcaneus fracture of the foot or ankle was improved and maintained in four of six cases.

• Maxillofacial Plastic and Reconstructive Surgery
• /
• 제18권1호
• /
• pp.69-77
• /
• 1996

저자등은 중안면 발육부전으로 인한 심미적 및 기능적 장애를 주소로 경희대학교 치과대학 구강악안면외과에 내원한 23세 남자에 대해 관상절개술만을 통하여 두개하 Le Fort III 골절단술을 시행하여 중안면부의 심미성을 증진시키고 안구돌출증의 해소 및 반대교합의 개선등 양호한 결과를 얻었기에 이에 대한 문헌고찰과 함께 보고하는 바이다.