Moore M H, Cantrell S B, Trott J A, David D J
Australian Craniofacial Unit, North Adelaide.
Cleft Palate Craniofac J. 1995 Jan;32(1):62-70. doi: 10.1597/1545-1569_1995_032_0062_psacr_2.3.co_2.
The combination of bicoronal craniosynostosis, broad thumbs and great toes, and partial variable soft tissue syndactyly of the hands and feet (i.e., Pfeiffer syndrome) classically followed a benign clinical course. A review of the clinical features of those Pfeiffer syndrome patients presenting to our unit confirm another subgroup in whom the craniofacial and associated manifestations are more extreme, with a significant risk of early demise. The early aggressive surgical management of craniostenosis, hydrocephalus, exorbitism, faciostenosis, and upper airway obstruction has provided the potential for prolonged useful survival in these cases.
双冠状缝早闭、拇指和大脚趾宽阔以及手足部分可变软组织并指(即 Pfeiffer 综合征)的组合,传统上临床病程较为良性。对就诊于我们科室的 Pfeiffer 综合征患者的临床特征进行回顾发现,另一亚组患者的颅面及相关表现更为严重,早期死亡风险显著。对颅缝早闭、脑积水、眼球突出、面部狭窄和上呼吸道梗阻进行早期积极的手术治疗,为这些病例延长有效生存期提供了可能。