EC Paediatrics

Microcephalic Osteodysplastic Primordial Dwarfism, Type II (MOPDII) is the most common type of microcephalic primordial dwarfism (MPD), reported cases worldwide are about 150 cases [1] and the number is increasing. The disease is caused by biallelic loss-of-function mutations in the pericentrin gene (PCNT1), which is inherited in an autosomal recessive manner [2]. It manifests as the other MPD types with severe pre and postnatal growth retardation associated with marked microcephaly. In addition to these features, individuals with MOPDII specifically have characteristic facies, skeletal dysplasia, abnormal dentition, and an increased risk for cerebrovascular disease and insulin resistance [3]. All features might not appear until later in life, hence there is a current consensus to follow these patients for the first few years. The reported life expectancy is up to three decades [4].

In the following text, we are reporting two siblings from Qatar, in whom the mode of inheritance was identified to be of the compound heterozygous variant. We are presenting their clinical, radiological, and laboratory findings, in addition to summary of their course of diagnosis and management approach.

Keywords: Two Siblings; Microcephalic Osteodysplastic Primordial Dwarfism, Type II (MOPDII); Heterozygous Variant

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