Abstract
Genetic and metabolic disorders present unique challenges in understanding the pathophysiology and outcomes of specific symptoms and presentations due to their broad spectrum of manifestations and etiologies. In this case report, we have studied a 26-year-old who was diagnosed with omodysplasia, a rare form of skeletal dysplasia. She exhibits atypical symptoms of psychosis and was diagnosed with schizophreniform disorder at an early age. Various antipsychotic medications were administered; however, minimal to no improvement was noted in the symptoms. On the contrary, she reported adverse effects to some antipsychotics. She continued to exhibit delusions and hallucinations and showed clinical improvement after treatment with olanzapine. Her clinical course was further complicated by the presence of borderline personality traits, which went unnoticed earlier. Here, we would like to highlight the course of her symptoms, the different treatments administered, and the possible link between omodysplasia and treatment-resistant schizophrenia.