Warsaw breakage syndrome: an etiology for congenital microcephaly and sensorineural deafness

CONCLUSION: We review the clinical and genetic data of the 23 reported cases with the syndrome in the literature and analyze the etiopathogenic interpretation of our case variants based on the molecular and cellular functions of DDX11 described. Due to the clinical overlap with the chromosomal breakage syndromes and cohesinopathies we must make the differential diagnosis with these entities, overall, with Fanconi anemia, Nijmegen breakage syndrome, Cornelia de Lange syndrome and Roberts syndrome. In clinical practice we must think in Warsaw breakage syndrome in the neonatal period in a patient with intrauterine growth restriction, severe microcephaly, and sensorineural deafness.PMID:36703504 | DOI:10.33588/rn.7603.2022165

Source: Revista de Neurologia - January 27, 2023 Category: Neurology Authors: I Arroyo-Carrera M Solo de Zald ívar-Tristancho V D Garc ía Navas-Núñez A Ramajo-Polo M Guti érrez-Agujetas Source Type: research