Hockstein Neil G, McDonald-McGinn Donna, Zackai Elaine, Bartlett Scott, Huff Dale S, Jacobs Ian N
Division of Otolaryngology, Department of Molecular Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Arch Otolaryngol Head Neck Surg. 2004 Nov;130(11):1298-302. doi: 10.1001/archotol.130.11.1298.
To determine the types and frequency of airway anomalies in patients with Pfeiffer syndrome.
Retrospective case series.
Academic tertiary care pediatric hospital.
Eleven patients with Pfeiffer syndrome, 6 of whom were severely affected, were identified. All were included in the study.
Presence of tracheal anomalies, need for tracheotomy, and length of life.
The 6 severely affected patients had mutations in genes that code for fibroblast growth factor receptor 2 (S351C [3 patients]; C342S [2 patients]; and W290C [1 patient]). Five of these patients were diagnosed during bronchoscopy or tracheotomy as having a congenital tracheal cartilaginous sleeve. In 1 patient, supportive care was withdrawn at 2 weeks of life, and the patient died. The remaining 5 patients required tracheotomy because of severe upper airway obstruction. Three of these patients died (at ages 9 months and 7 and 15 years). Two are still alive at ages 23 and 18 months.
Patients with Pfeiffer syndrome manifest significant airway pathologic conditions. Upper airway obstruction is related to midface hypoplasia and secondary nasal obstruction. Tracheal anomalies have been infrequently reported.
确定费弗综合征患者气道异常的类型和频率。
回顾性病例系列研究。
学术性三级儿科医院。
确定了11例费弗综合征患者，其中6例病情严重。所有患者均纳入研究。
气管异常的存在情况、气管切开术需求及寿命长度。
6例病情严重的患者存在编码成纤维细胞生长因子受体2的基因突变（3例为S351C；2例为C342S；1例为W290C）。其中5例患者在支气管镜检查或气管切开术中被诊断为先天性气管软骨套。1例患者在出生2周时停止支持治疗并死亡。其余5例患者因严重上气道阻塞需要气管切开术。其中3例患者死亡（分别为9个月、7岁和15岁）。另外2例患者分别在23个月和18个月时仍然存活。
费弗综合征患者表现出明显的气道病理状况。上气道阻塞与面中部发育不全和继发性鼻阻塞有关。气管异常的报道较少。
