ReviewFrontiers in pediatrics2021
Diagnostic Approach to Macrocephaly in Children.
Review in Frontiers in pediatrics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 53 citations in OpenAlex.
- Predicting Craniospinal Surgery in Pediatric Achondroplasia: Benchmarking Statistical Inference and Explainable AI Under Rare-Disease Constraints.Annals of biomedical engineering · 2026Article
- Fetal magnetic resonance imaging features of syndromic megalencephaly: a systematic review of imaging-genotype associations.Pediatric radiology · 2026Review
- Article
- Prior Head Circumference Measurements in Infants With Older Subdural Hematomas: Did We Miss It?Clinical pediatrics · 2026Article
- Up-regulation of Minibrain/DYRK1A contributes to macrocephaly and brain overgrowth in aProceedings of the National Academy of Sciences of the United States of America · 2026Article
- Article
- Prenatal Ultrasound-Detected Structural Anomalies Associated with Autism Spectrum Disorder: A Narrative Review.Consortium psychiatricum · 2026Review
- Fetal Macrocephaly: Prenatal Findings and Follow-Up in Cases With High Risk for Abnormal Outcome.Prenatal diagnosis · 2026Article
- Detecting microcephaly and macrocephaly from ultrasound images using artificial intelligence.BMC medical imaging · 2025Article
- Unraveling the relationship between head circumference and MC4R deficiency from infancy to adulthood: a case-control study.Obesity (Silver Spring, Md.) · 2025Article
- Do not Forget to Measure the Head: Hydrocephalus Can Phenotypically Mimic Developmental Coordination Disorder.Journal of child neurology · 2025Article
- Head circumference values among Inuit children in Nunavut, Canada: a retrospective cohort study.CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne · 2024Article
- Brain organoids: A new tool for modelling of neurodevelopmental disorders.Journal of cellular and molecular medicine · 2024Review
- Macrocephaly and Finger Changes: A Narrative Review.International journal of molecular sciences · 2024Review
- De novo variants in DENND5B cause a neurodevelopmental disorder.American journal of human genetics · 2024Article
- Article
- Head circumference growth in children with Autism Spectrum Disorder: trend and clinical correlates in the first five years of life.Frontiers in psychiatry · 2024Article
- The Key Aspects of Neonatal and Infant Neurological Examination: The Ballard Score, the Infant's Head with Hydrocephalus and Assessment in a Clinical Setting.The Malaysian journal of medical sciences : MJMS · 2023Article
- Subdural Lesions Linking Additional Intracranial Spaces and Chronic Subdural Hematomas: A Narrative Review with Mutual Correlation and Possible Mechanisms behind High Recurrence.Diagnostics (Basel, Switzerland) · 2023Review
- Establishment of a murine model of congenital toxoplasmosis and validation of a qPCR assay to assess the parasite load in maternal and fetal tissues.Frontiers in microbiology · 2023Article
Corrections and comments
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Authors and funding
14 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 the mean for a given age and sex. Taking into account that about 2-3% of the healthy population has an OFC between 2 and 3 SD, macrocephaly is considered as "clinically relevant" when OFC is above 3 SD. This implies the urgent need for a diagnostic workflow to use in the clinical setting to dissect the several causes of increased OFC, from the benign form of familial macrocephaly and the Benign enlargement of subarachnoid spaces (BESS) to many pathological conditions, including genetic disorders. Moreover, macrocephaly should be differentiated by megalencephaly (MEG), which refers exclusively to brain overgrowth, exceeding twice the SD (3SD-"clinically relevant" megalencephaly). While macrocephaly can be isolated and benign or may be the first indication of an underlying congenital, genetic, or acquired disorder, megalencephaly is most likely due to a genetic cause. Apart from the head size evaluation, a detailed family and personal history, neuroimaging, and a careful clinical evaluation are crucial to reach the correct diagnosis. In this review, we seek to underline the clinical aspects of macrocephaly and megalencephaly, emphasizing the main differential diagnosis with a major focus on common genetic disorders. We thus provide a clinico-radiological algorithm to guide pediatricians in the assessment of children with macrocephaly.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.