Revesz syndrome revisited.

ABSTRACT:

Background

Revesz syndrome (RS) is an extremely rare variant of dyskeratosis congenita (DKC) with only anecdotal reports in the literature.

Methods

To further characterize the typical features and natural course of the disease, we screened the English literature and summarized the clinical and epidemiological features of previously published RS cases. In addition, we herein describe the first recorded patient in central Europe.

Results

The literature review included 18 children. Clinical features are summarized, indicating a low prevalence of the classical DKC triad. All patients experienced early bone marrow failure, in most cases within the second year of life (median age 1.5 years; 95% CI 1.4-1.6). Retinopathy occurred typically between 6 and 18 months of age (medi

SUBMITTER: Karremann M 

PROVIDER: S-EPMC7583287 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature