Microcephalic osteodyplastic primordial dwarfism type II: case report with unique oral findings and a new mutation in the pericentrin gene.

OBJECTIVE

Microcephalic osteodysplastic dwarfism (MOPD) type II (OMIM 210720) is a rare autosomal recessive form of primordial dwarfism, characterized by intrauterine and postnatal growth restriction, microcephaly, distinctive facial features, and osteodysplastic skeletal changes. The dental literature describing the oral manifestations of this syndrome is scarce.

STUDY

DESIGN

The aim of this article is to report the case of an 8-year-old male of Indian origin with MOPD type II and to describe his oral and dental manifestations. Genetic analysis was performed to confirm the diagnosis.

RESULTS

The patient presented with interesting dental findings, including oligodontia, enamel hypoplasia, early exfoliation of primary dentition, accelerated eruption of permanent teeth with generalized grade II mobility, histopathologic features suggestive of dentin dysplasia, and a new mutation in the Pericentrin gene, which has not been documented earlier.

CONCLUSIONS

This is the first report from India of a case with this syndrome. The article presents various dentomaxillofacial features that have not been documented in dental literature earlier with sufficient evidence.