Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review

Abstract

Purpose of the ReviewThis review will provide an overview of the microcephalic primordial dwarfism (MPD) class of disorders and provide the reader comprehensive clinical review with suggested care guidelines for patients with microcephalic osteodysplastic primordial dwarfism, type II (MOPDII).Recent FindingsOver the last 15 years, significant strides have been made in the diagnosis, natural history, and management of MOPDII.SummaryMOPDII is the most common and well described form of MPD. The classic features of the MPD group are severe pre- and postnatal growth retardation, with marked microcephaly. In addition to these features, individuals with MOPDII have characteristic facies, skeletal dysplasia, abnormal dentition, and an increased risk for cerebrovascular disease and insulin resistance. Biallelic loss-of-function mutations in the pericentrin gene cause MOPDII, which is inherited in an autosomal recessive manner.

Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation

“…MOPD II (MIM: 210720) refers to a subtype of MOPD in which patients display recognizable facial gestalt, distinct skeletal changes and sometimes cerebrovascular malformations (Hall, Flora, Scott, Pauli, & Tanaka, 2004; Willems et al, 2010). Other recognized features include rootless teeth and abnormal skin pigmentations (Kantaputra et al, 2011) while insulin resistance diabetes and abnormal hematologic indices were identified in a small number of patients (Bober & Jackson, 2017; Hall et al, 2004).…”

“…Unlike other forms of primary microcephaly. The eyes may show downward slanting and the jaw typically shows micrognathia (Bober & Jackson, 2017; Hall et al, 2004).…”

“…MOPD II patients are considered the shortest with the smallest teeth among the MOPD spectrum (Hall, 2013; Kantaputra et al, 2011; Rauch, 2011). Unfortunately, the growth did not show improvement during growth hormone therapy (Bober & Jackson, 2017; Hall et al, 2004). Nevertheless, overlap between MOPD II and Seckel syndrome is apparent at both the clinical and genetic level (Griffith et al, 2008; Willems et al, 2010).…”

Centrosomes: The good and the bad for brain development

“…1993; Woods et al. 2005; Bober and Jackson 2017]. Reduction in cerebral cortex size and intellectual disability are two clinical characteristics shared by these patients.…”

“…2008]; MOPDII patients exhibit a short stature and skeletal dysplasia in the absence of brain structural anomalies [Rauch et al. 2008; Bober and Jackson 2017].…”