Clinical Features and Associated Likelihood of Primary Ciliary Dyskinesia in Children and Adolescents.

ABSTRACT:

Rationale

Primary ciliary dyskinesia (PCD), a genetically heterogeneous, recessive disorder of motile cilia, is associated with distinct clinical features. Diagnostic tests, including ultrastructural analysis of cilia, nasal nitric oxide measurements, and molecular testing for mutations in PCD genes, have inherent limitations.

Objectives

To define a statistically valid combination of systematically defined clinical features that strongly associates with PCD in children and adolescents.

Methods

Investigators at seven North American sites in the Genetic Disorders of Mucociliary Clearance Consortium prospectively and systematically assessed individuals (aged 0-18 yr) referred due to high suspicion for PCD. The investigators defined specific clinical questions for the cli

SUBMITTER: Leigh MW 

PROVIDER: S-EPMC5021075 | biostudies-literature | 2016 Aug

REPOSITORIES: biostudies-literature