Why is "Macrocephaly" trending?

Search Interest Perspective

• Recognition of Macrocephaly for Early Detection of Cowden Syndrome With Differentiated Thyroid Cancer and Melanoma - Wiley Online Library
• Four-Month-Old Infant With Macrocephaly and... : Clinical Pediatrics - Ovid
• A Novel PTEN Frameshift Variant in a Child With Autism Spectrum Disorder and Macrocephaly: A Case Report - Cureus
• Imaging in the study of macrocephaly: Why?, when?, how? - www.elsevier.com
• Mechanisms of brain overgrowth in autism spectrum disorder with macrocephaly - Frontiers
• Macrocephaly and Characteristic MRI Findings as Early Clues to a Hereditary Overgrowth Syndrome - Cureus
• CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language - Nature
• The Head Circumference Height Index (HCH‐I) to Quantify Relative Macrocephaly and Aid Identification of Hypochondroplasia in Children - Cheung - 2026 - American Journal of Medical Genetics Part A - Wiley Online Library
• Café-Au-Lait Macules and Macrocephaly in a 19-Month-Old: Diagnostic Considerations Beyond Neurofibromatosis - Cleveland Clinic
• Infant with Macrocephaly, Refractory Seizures, and a Leukodystrophy - Cambridge University Press & Assessment
• A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay - Nature
• Genetic disorders associated with macrocephaly - Wiley Online Library
• Hyperconnectivity of prefrontal cortex to amygdala projections in a mouse model of macrocephaly/autism syndrome - Nature
• Diagnostic Pitfalls of Macrocephaly and Intracranial Dural Arteriovenous Fistulas: Connecting the Dots With the Red Flags - Cureus
• A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8 - Nature
• A novel NFIA gene nonsense mutation in a Chinese patient with macrocephaly, corpus callosum hypoplasia, developmental delay, and dysmorphic features - Wiley Online Library
• The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly - Nature
• Coffin–Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene - Nature
• A novel PAK1 variant causative of neurodevelopmental disorder with postnatal macrocephaly - Nature
• De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions - Nature
• Total Cranial Vault Remodeling for Hydrocephalus-Induced Macrocephaly - Cleveland Clinic
• Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities - Nature
• WDFY3 Haploinsufficiency Is Associated With Autosomal Dominant Neurodevelopmental Disorders and Macrocephaly - Wiley Online Library
• Big heads, small details and autism - National Institutes of Health (NIH) | (.gov)
• APPlications of amyloid-β precursor protein metabolites in macrocephaly and autism spectrum disorder - Frontiers
• A recessive form of extreme macrocephaly and mild intellectual disability complements the spectrum of PTEN hamartoma tumour syndrome - Nature
• Can syndromic macrocephaly be diagnosed in utero? - Malinger - Wiley & Sons
• Autism’s relationship to head size, explained - The Transmitter
• A 12p13 GRIN2B deletion is associated with developmental delay and macrocephaly - Nature
• Autism and macrocephaly - The Lancet
• Extreme macrocephaly treated by shunting & cranial reduction/fixation in 1st week of life - EurekAlert!
• Study subject - macrocephaly (IMAGE) - EurekAlert!
• Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model - Nature
• Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome (MCAP): A Rare Dynamic Genetic Disorder - Cureus
• Subdural hemorrhage, macrocephaly, rash, and developmental delay in an infant: A pathogenic variant in NLRP3 causes CINCA/NOMID - Wiley Online Library
• Macrocephaly, Obesity, Mental (Intellectual)... : American Journal Of Medical Genetics -A - Ovid
• Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay - Wiley Online Library
• Genetics: Head size heterogeneous in autism - The Transmitter
• Macrocephaly–capillary malformation: Analysis of 13 patients and review of the diagnostic criteria - Wiley Online Library
• Head circumference in the clinical detection of PTEN hamartoma tumor syndrome in a clinic population at high-risk of breast cancer - National Institutes of Health (NIH) | (.gov)
• Teaching NeuroImages: Macrocephaly with subcortical calcifications in vein of Galen aneurysmal malformation - Neurology® Journals
• Polyhydramnios, fetal overgrowth, and macrocephaly: Prenatal ultrasound findings of Costello syndrome - Wiley Online Library
• Abnormal cranium development in children and adolescents affected by syndromes or diseases associated with neurodysfunction | Scientific Reports - Nature
• Man with macrocephaly, learning disability and multiple basal cell carcinomas - Tidsskrift for Den norske legeforening
• What is the cause of macrocephaly? The rare disease that many say Paris Hilton's son has - MARCA
• Atypical presentation of infantile Alexander disease without macrocephaly - www.elsevier.com
• Macrocephaly-cutis marmorata telangiectatica congenita: Report of six new patients and a review - Wiley Online Library
• 100 kg Macrocephaly turtle rescued, released into sea in Ramanathapuram - ANI News