Diagnostic approach to macrocephaly in children

A Accogli, AF Geraldo, G Piccolo, A Riva… - Frontiers in …, 2022 - frontiersin.org
Macrocephaly affects up to 5% of the pediatric population and is defined as an abnormally
large head with an occipitofrontal circumference (OFC)> 2 standard deviations (SD) above …

Rare CNVs and known genes linked to macrocephaly: review of genomic loci and promising candidate genes

GC Bastos, GC Tolezano, ACV Krepischi - Genes, 2022 - mdpi.com
Macrocephaly frequently occurs in single-gene disorders affecting the PI3K-AKT-MTOR
pathway; however, epigenetic mutations, mosaicism, and copy number variations (CNVs) …

[HTML][HTML] Embryology, central nervous system, malformations

A Rewane, S Munakomi - StatPearls [Internet], 2023 - ncbi.nlm.nih.gov
The central nervous system (CNS) is composed of the brain and the spinal cord. They both
develop from the embryonic ectoderm alongside other structures like the skin. Their …

Impact of brain overgrowth on sensorial learning processing during the first year of life

G López-Arango, F Deguire, K Agbogba… - Frontiers in human …, 2022 - frontiersin.org
Macrocephaly is present in about 2–5% of the general population. It can be found as an
isolated benign trait or as part of a syndromic condition. Brain overgrowth has been …

EEG repetition and change detection responses in infancy predict adaptive functioning in preschool age: a longitudinal study

F Deguire, G López-Arango, IS Knoth, V Côté… - Scientific Reports, 2023 - nature.com
Neurodevelopmental disorders (NDDs) are mostly diagnosed around the age of 4–5 years,
which is too late considering that the brain is most susceptive to interventions during the first …

[HTML][HTML] Impact of macrocephaly, as an isolated trait, on EEG signal as measured by spectral power and multiscale entropy during the first year of life

G López-Arango, F Deguire, K Agbogba… - Developmental …, 2023 - karger.com
Macrocephaly has been associated with neurodevelopmental disorders; however, it has
been mainly studied in the context of pathological or high-risk populations and little is known …

Asymptomatic macrocephaly: to scan or not to scan

CN Thomas, AB Kolbe, LA Binkovitz, JS McDonald… - Pediatric …, 2021 - Springer
Background Macrocephaly is a common finding in infants and is often idiopathic or familial.
In the absence of clinical signs and symptoms, it can be difficult to determine when concern …

Epidemiology of Macrocephaly in the Texas Birth Defects Registry, 1999–2019

RP Allred, J Aguilar‐Martinez, R Howell… - Birth Defects …, 2024 - Wiley Online Library
Background Macrocephaly is a clinical observation denoted as an occipitofrontal head
circumference exceeding two standard deviations above same age and sex norms. By its …

Macrocephaly in the primary care provider's office

JP Bryant, NE Hernandez, TN Niazi - Pediatric Clinics, 2021 - pediatric.theclinics.com
Macrocephaly is a frequently encountered entity within the pediatric clinical practice,
affecting approximately 2% to 5% of the population. It is diagnosed primarily in infants in …

[PDF][PDF] ОНТОЛОГІЯ ВАРІАНТІВ БУДОВИ ТА ВАД РОЗВИТКУ ЧЕРЕПА. ЧАСТИНА І

ТВ Хмара, НБ Кузняк, ЮА Морараш, МО Ризничук… - 2021 - scholar.archive.org
Серйозні уроджені аномалії трапляються у 1 з 33 новонароджених або близько 125 000
живонароджених щорічно в США і є основною причиною дитячої смертності. Черепно …