Craniosynostosis and congenital tracheal anomalies in an infant with Pfeiffer syndrome carrying the W290CFGFR2 mutation

ASIA unversity > 醫學暨健康學院 > 生物科技學系 > 期刊論文 > Item 310904400/8334

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题名:	Craniosynostosis and congenital tracheal anomalies in an infant with Pfeiffer syndrome carrying the W290CFGFR2 mutation
作者:	Chen, CP (Chen, C. -P.);Lin, SP (Lin, S. -P.);Su, YN (Su, Y. -N.);Chen, SC (Chen, S. -C.);Tsai, FJ (Tsai, F. -J.);Wang, W (Wang, W.)
贡献者:	Department of Biotechnology
关键词:	craniosynostosis;FGFR2 mutation;Pfeiffer syndrome;tracheal anomalies;GROWTH-FACTOR RECEPTOR-2;CROUZON-SYNDROME;CARTILAGINOUS SLEEVE;FGFR2 GENE;TRP290CYS MUTATION;CLOVERLEAF SKULL;SYNDROME TYPE-2;PATIENT;DIAGNOSIS;SPECTRUM
日期:	2008
上传时间:	2010-03-26 02:29:53 (UTC+0)
出版者:	Asia University
摘要:	Pfeiffer syndrome (OMIM 10 1600) is an autosomal dominant disorder characterized by craniosynostosis, midface hypoplasia, ocular proptosis and digital malformations. We report on a type 11 Pfeiffer female infant with craniosynostosis, hydrocephalus, and characteristic craniofacial and digital abnormalities. The patient had a history of airway difficulty. Bronchoscopy at age four months revealed low tracheal stenosis and fibrous cartilaginous rings. She underwent tracheostomy for the treatment of cyanotic episodes. Molecular analysis revealed a de novo missense mutation c.870 G > T (TGG > TGT) in the FGFR2 gene that predicts a substitution of cysteine for tryptophan at the codon 290, (W290C). There is phenotypic heterogeneity of tracheal anomalies due to FGFR2 mutations. A review of the literature shows that Pfeiffer patients with the similar tracheal abnormalities can be caused by different FGFR2 mutations and, likewise, the patients with the same FGFR2 mutation may manifest different kinds of tracheal anomalies. Tracheal anomalies may occur in Pfeiffer patients and cause morbidity and mortality because of airway obstruction. Recognition and detailed evaluation of tracheal anomalies should be included in the early diagnostic workup for severe Pfeiffer patients.
關聯:	GENETIC COUNSELING, 19 (2): 165-172
显示于类别:	[生物科技學系] 期刊論文

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