Revisão Revisado por pares

Pfeiffer Syndrome: A Clinical Review

1995; SAGE Publishing; Volume: 32; Issue: 1 Linguagem: Inglês

10.1597/1545-1569_1995_032_0062_psacr_2.3.co_2

ISSN

1545-1569

Autores

Mark H. Moore, Stephen B. Cantrell, James A. Trott, David J. David,

Tópico(s)

Neurogenetic and Muscular Disorders Research

Resumo

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.

Referência(s)