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Ocular characteristics in a variant microcephalic primordial dwarfism type II

Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II) is a rare disease that is assumed to be caused by a pericentrin (PCNT) gene mutation. Clinical manifestations have been reported in pediatrics and neurology; however, only a few ocular findings have been documented. | Ocular characteristics in a variant microcephalic primordial dwarfism type II