Abstract
A middle-aged patient presented with mild facial dysmorphisms, small teeth with enamel hypoplasia, progressive gait disturbances, memory problems, and history of syndactyly, corrected in early childhood. MRI showed a hypomyelination pattern compatible with oculodentaldigital dysplasia (ODDD)1,2 (Figure 1). Ophthalmic findings revealed severe bilateral myopia. Exome sequencing revealed a heterozygous GJA1 missense variant ( p .Gly138Asp). The patient's mother (deceased) had developed slowly progressive neurodegeneration, ataxia, and seizures. MRI (age 80) revealed extensive leukodystrophic changes (Figure 2). ODDD diagnosis is often missed, highlighting the importance of clinical suspicion, MRI, and molecular testing in adult patients with facial, dental, and neurologic clinical features.
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