An atypical presentation of severe congenital contractures and lack of cerebellar involvement in a patient with a novel LAMA1 mutation

Background: LAMA1 gene is mutated in patients with Poretti-Boltshauser syndrome, which include mainly the characteristic neuroimaging findings of cerebellar dysplasia and cysts. Case Presentation: We present a novel homozygous LAMA1 variant that is predicted to cause atypical phenotype of severe arthrogryposis, feeding difficulties, developmental delay, retinopathy, and no cerebellar involvement. Conclusion: Our findings are suggestive of absence of cerebellar involvement in LAMA1 mutations in some cases and phenotype may include severe arthrogryposis. [JBCGenetics 2018; 1(1.000): 43-46