{Reference Type}: Case Reports
{Title}: Sensorineural Hearing Loss in a Patient Affected by Congenital Cytomegalovirus Infection: Is It Useful to Identify Comorbid Pathologies?
{Author}: Fontana P;Melis D;D'Amico A;Cappuccio G;Auletta G;Vassallo P;Genesio R;Nitsch L;Buffolano W;
{Journal}: J Pediatr Genet
{Volume}: 6
{Issue}: 3
{Year}: Sep 2017
暂无{DOI}: 10.1055/s-0037-1599223
{Abstract}: Sensorineural hearing loss (SNHL) is a common defect with a multifactorial etiology. Congenital cytomegalovirus infection (cCMV) is the most common infectious cause, and its early detection allows a prompt pharmacological treatment that can improve hearing prognosis. In a consistent percentage of profound SNHL, genetic causes and/or inner ear malformations are involved; their prompt diagnosis might change therapeutic options. This study reports a case of a 3- year-old female patient with symptomatic cCMV infection who also exhibits developmental delay, dysmorphic facial features, bilateral hearing loss, and cochlear incomplete partition, type 2, in 7q21.3 deletion. This deletion includes the genes DLX5 and DLX6 , which could be the candidate genes for the ear malformation named incomplete partition, type 2.