Two Siblings With Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPDII) Caused by Compound Heterozygous Pericentrin (PCNT) Gene Variants

TL;DR

Two siblings with a rare genetic disorder called MOPDII were found to have compound heterozygous variants in the PCNT gene, highlighting the importance of this diagnosis in growth restriction cases.

Contribution

The paper confirms MOPDII can result from compound heterozygous PCNT gene variants through two sibling cases.

Findings

Compound heterozygous PCNT gene variants were identified in two siblings with MOPDII.

Prenatal and postnatal diagnoses were made, emphasizing the disorder's variable presentation.

The study underscores the need for multidisciplinary management due to high cerebrovascular risk.

Abstract

Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a rare genetic disorder characterized by severe pre- and postnatal growth failure and microcephaly. We present two male siblings with MOPDII confirmed by the identification of compound heterozygous variants in the pericentrin (PCNT) gene. The first, a twin with intrauterine growth restriction, was diagnosed postnatally at four years of age after developing dysmorphic features and neurodevelopmental delays. His younger sibling was diagnosed prenatally via chorionic villus sampling. These cases highlight that MOPDII can result from compound heterozygous inheritance and underscore the importance of considering this diagnosis in severe, symmetric intrauterine growth restriction. A structured, multidisciplinary approach is essential for managing the complex comorbidities, including the high risk of cerebrovascular disease.