Cihat Şen, Nicola Volpe
Cecilia Villalain, Daniel Rolnik, M. Mar Gil
OP-01 Primary microcephaly cases with molecular genetic basis. Perinatal Journal 2023;31(3):01 DOI: 10.59215/prn.23.031supp001
Earlyview Date: September 22, 2023
Publication date: October 01, 2023
No conflicts declared.
Primary microcephaly (MCPH, for “microcephaly primary hereditary”) is a disorder of brain development that results in a head circumference more than 3 standard deviations below the mean for age and gender. Our aim is to evaluate ultrasonographic findings, clinical features and molecular analysis of two cases of primary microcephaly
Two cases at 26 and 23 weeks referred to our clinic due to small BPD and HC measurements for gestational age at second trimester screening ultrasonography.
The ongoing discovery and research on MCPH genes and their animal models will increase our knowledge in this rare non-progressive neuropediatric disorder. MCPH genes might play an essential role during evolution, and therefore, they are suitable candidates for studying normal brain development
Brain development, genetic, microcephaly