OP-01 Primary microcephaly cases with molecular  genetic basis

Ümit Taşdemir; Oya Demirci

OP-01 Primary microcephaly cases with molecular genetic basis

Article info

OP-01 Primary microcephaly cases with molecular genetic basis. Perinatal Journal 2023;31(2023):01 DOI: 10.59215/prn.23.031supp001

Author(s) Information

Ümit Taşdemir¹,

Oya Demirci²

Zeynep Kamil Women and Children Diseases Training and Research Hospital
Zeynep Kamil Women and Children Diseases Training and Research Hospital

Correspondence

Ümit Taşdemir, Zeynep Kamil Women and Children Diseases Training and Research Hospital,

Publication History

Earlyview Date: September 22, 2023

Publication date: October 01, 2023

Conflicts of Interest

No conflicts declared.

Objective

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

Case

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.

Discussion

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

Conclusion

All cases of microcephaly should be referred to the medical genetics service to confirm or rule out the diagnosis and to provide genetic counseling

Keywords

Brain development, genetic, microcephaly

Passemard, S., Kaindl, A. M., & Verloes, A. (2013). Microcephaly. Handbook of clinical neurology, 111, 129- 141.
Becerra-Solano, L. E., Mateos-Sánchez, L., & LópezMuñoz, E. (2021). Microcephaly, an etiopathogenic vision. Pediatrics & Neonatology, 62(4), 354-360.
Zaqout, S., Morris-Rosendahl, D., & Kaindl, A. M. (2017). Autosomal recessive primary microcephaly (MCPH): an update. Neuropediatrics, 48(03), 135-142.

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