Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease.

ABSTRACT:

Background

Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is the most common form of primordial dwarfism, caused by bialleic mutations in the pericentrin gene (PCNT). Aside from its classic features, there are multiple associated medical complications, including a well-documented risk of neurovascular disease. Over the past several years, it has become apparent that additional vascular issues, as well as systemic hypertension and kidney disease may also be related to MOPDII. However, the frequency and extent of the vasculopathy was unclear. To help address this question, a vascular substudy was initiated within our Primordial Dwarfism Registry.

Results

Medical records from 47 individuals, living and deceased, ranging in age from 3 to 41 years of age were

SUBMITTER: Duker AL 

PROVIDER: S-EPMC8139163 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature