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Microcephalic osteodysplastic primordial dwarfism type II (MOPD-II) is a rare autosomal recessive disorder caused by variants in PCNT . It is characterised by severe prenatal and postnatal growth restriction, microcephaly, skeletal anomalies, and distinctive orodental features. Fewer than 150 cases have been...
An 11-year-old male with compound heterozygous NSMCE2 variants and a phenotype consistent with MPD exhibited a bilateral developmental maculopathy, an ocular feature not previously associated with NSMCE2 deficiency, which may broaden the phenotypic spectrum associated with NSMCE2-related MPD.
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