A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature.

ABSTRACT:

Background

Mutations in CCBE1 have been found to be responsible for a subset of families with autosomal recessive Hennekam syndrome. Hennekam syndrome is defined as the combination of generalized lymphatic dysplasia (ie. lymphedema and lymphangiectasia), variable intellectual disability and characteristic dysmorphic features. The patient we describe here has a lymphatic dysplasia without intellectual disability or dysmorphism caused by mutation in CCBE1, highlighting the phenotypic variability that can be seen with abnormalities in this gene.

Case presentation

Our patient is a 5 week old child of Pakistani descent who presented to our center with generalized edema, ascites, and hypoalbuminemia. She was diagnosed with a protein losing enteropathy secondary to segmental primar

SUBMITTER: Frosk P 

PROVIDER: S-EPMC4630843 | biostudies-literature | 2015 Apr

REPOSITORIES: biostudies-literature