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

• Published in: Orphanet journal of rare diseases Vol. 16; no. 1; pp. 231 - 15
• Main Authors: Duker, Angela L, Kinderman, Dagmar, Jordan, Christy, Niiler, Tim, Baker-Smith, Carissa M, Thompson, Louise, Parry, David A, Carroll, Ricki S, Bober, Michael B
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 20.05.2021; BioMed Central; BMC
• Subjects: Adolescent; Adult; Aneurysm; Child; Child, Preschool; Complications and side effects; Dwarfism; Dwarfism - genetics; Fetal Growth Retardation; Humans; Microcephaly; MOPDII; Moyamoya; Neurovascular diseases; Osteochondrodysplasias - genetics; Primordial dwarfism; Risk factors; Stroke; Vascular disease; Vascular Diseases - genetics; Young Adult; United States; Myocardial infarction; Vascular disease; Stroke; Kaplan–Meier; MOPDII; Moyamoya; Aneurysm; Chronic kidney disease; Diabetes; Primordial dwarfism

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 ne...