Increased Head Circumference Latest Advances

Find the Latest Research About Increased Head Circumference

Last Updated: 09/26/2026

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Found 1328 publications

Diagnosis of hypochondroplasia: international Delphi consensus recommendations.

Diagnosis of hypochondroplasia: international Delphi consensus recommendations.

Journal: Nature reviews. Endocrinology
Published: August 04, 2026

Unmasked Behavioral Disturbance Following Traumatic Brain Injury in an Adult With Previously Undiagnosed Sotos Syndrome.

Unmasked Behavioral Disturbance Following Traumatic Brain Injury in an Adult With Previously Undiagnosed Sotos Syndrome.

Journal: Cureus
Published: July 20, 2026

PTCH1-Related Gorlin Syndrome: Expanding the Clinical and Molecular Spectrum in a Cohort of 11 Patients.

PTCH1-Related Gorlin Syndrome: Expanding the Clinical and Molecular Spectrum in a Cohort of 11 Patients.

Journal: Klinische Padiatrie
Published: July 16, 2026

Van der Knaap Disease Unveiled: A Radiological-Genomic Journey From Seizure to Diagnosis.

Van der Knaap Disease Unveiled: A Radiological-Genomic Journey From Seizure to Diagnosis.

Journal: Cureus
Published: July 14, 2026

Diagnostic Pitfall in Genomic Era: Discordant SMARCA2 Finding in Patient with Megalencephalic Leukoencephalopathy with Subcortical Cysts.

Diagnostic Pitfall in Genomic Era: Discordant SMARCA2 Finding in Patient with Megalencephalic Leukoencephalopathy with Subcortical Cysts.

Journal: Diagnostics (Basel, Switzerland)
Published: July 08, 2026

Variable Expressiveness of a Novel Pathogenic SETD1A Missense Variant Linked to FLOS Domain Haploinsufficiency in a Mexican Pedigree.

Variable Expressiveness of a Novel Pathogenic SETD1A Missense Variant Linked to FLOS Domain Haploinsufficiency in a Mexican Pedigree.

Journal: Diseases (Basel, Switzerland)
Published: July 06, 2026

Severe, rapidly progressive, atypical scoliosis with macrocephaly and a de novo phosphatase and tensin homolog missense variant: A case report.

Severe, rapidly progressive, atypical scoliosis with macrocephaly and a de novo phosphatase and tensin homolog missense variant: A case report.

Journal: Medicine
Published: June 19, 2026

Craniometaphyseal dysplasia: a rare cause of persistent macrocephaly.

Craniometaphyseal dysplasia: a rare cause of persistent macrocephaly.

Journal: BMJ case reports
Published: June 16, 2026

Macrocephaly and Skin Lesions: A Clue to the Diagnosis of PTEN Hamartoma Tumor Syndrome.

Macrocephaly and Skin Lesions: A Clue to the Diagnosis of PTEN Hamartoma Tumor Syndrome.

Journal: The Journal of pediatrics
Published: June 15, 2026

Coexisting PTEN and SDHB Mutations in a Pediatric Patient with PTEN Hamartoma Tumor Syndrome: a case report.

Coexisting PTEN and SDHB Mutations in a Pediatric Patient with PTEN Hamartoma Tumor Syndrome: a case report.

Journal: Frontiers in pediatrics
Published: June 15, 2026

AAV9-Mediated PTEN Gene Therapy Rescues Hepatic Pathology and Neuroanatomical Abnormalities in a Murine Model of PTEN Hamartoma Tumour Syndrome.

AAV9-Mediated PTEN Gene Therapy Rescues Hepatic Pathology and Neuroanatomical Abnormalities in a Murine Model of PTEN Hamartoma Tumour Syndrome.

Journal: Pharmaceutics
Published: June 03, 2026

Expanding the Phenotypic Spectrum of DICER1 Syndrome: Case Report with Overgrowth, Macrocephaly, Multinodular Goiter, and Lung Cyst.

Expanding the Phenotypic Spectrum of DICER1 Syndrome: Case Report with Overgrowth, Macrocephaly, Multinodular Goiter, and Lung Cyst.

Journal: Children (Basel, Switzerland)
Published: May 28, 2026
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Last Updated: 09/26/2026