Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2016 Oct;170(10):2580-6.
doi: 10.1002/ajmg.a.37870. Epub 2016 Aug 23.

Braddock-Carey syndrome: A 21q22 contiguous gene syndrome encompassing RUNX1

Stephen R Braddock  1   2 , Sarah T South  3   4 , Joshua D Schiffman  5 , Maria Longhurst  4 , Leslie R Rowe  4 , John C Carey  5
Affiliations
Case Reports

Braddock-Carey syndrome: A 21q22 contiguous gene syndrome encompassing RUNX1

Stephen R Braddock et al. Am J Med Genet A. 2016 Oct.

Abstract

In 1994, Braddock and Carey first reported two unrelated girls with a new multiple malformation syndrome. The primary features included Pierre Robin sequence, persistent neonatal-onset thrombocytopenia, agenesis of the corpus callosum, a distinctive facies, enamel hypoplasia, and severe developmental delay. Since that time, there have been multiple other reported patients with a similar phenotype. In addition, several reports of thrombocytopenia and developmental delay have been documented in association with deletions in the Down syndrome critical region at 21q22. The similarity of the reported cases with deletions involving 21q22 with the clinical presentation of the two patients with Braddock-Carey syndrome resulted in a reinvestigation of the genetic etiology of these two patients 20 years after the original study. This investigation provides evidence that the etiology of this and other "Fanconi-like" disorders represent a newly recognized contiguous gene deletion syndrome involving 21q22 and specifically, the RUNX1 gene. © 2016 Wiley Periodicals, Inc.

Keywords: Braddock-Carey; RUNX1; Robin sequence; agenesis of the corpus callosum; thrombocytopenia.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

Publication types

MeSH terms

Substances

Supplementary concepts