Abstrakt: |
A recent report from Sapienza University of Rome discusses a rare genetic condition called UPD(16)mat, which is characterized by intrauterine growth deficiency and multiple congenital malformations. The report presents a case study of a child with UPD(16)mat, providing a clinical description and comprehensive neurodevelopmental assessment. The evaluation revealed the presence of neuropsychological and minor neurological abnormalities, including speech disorder, motor skills difficulties, and visuo-motor deficit. The researchers recommend monitoring the neurodevelopmental outcomes of children with UPD(16)mat for early intervention opportunities. [Extracted from the article] |