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Updated: Jul 4, 2026

Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model

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Published on: November 4, 2025

Localized acalvaria with craniosynostosis.

Eissa Faqeih¹, Zoltan Patay, Zuhair Rahbeeni

¹Department of Pediatrics, King Fahad Medical City, Children's Hospital Departments of Radiology Medical Genetics Neuroscience, King Faisal Specialist Hospital, Riyadh, Kingdom of Saudi Arabia Departments of Medical Genetics and Pediatrics, University of British Columbia and British Columbia Children's Hospital, Vancouver, British Columbia, Canada.

Clinical Dysmorphology

|June 11, 2008

Summary

This case study details a rare congenital skull anomaly in a young boy, featuring partial absence of skull bones (acalvaria) and premature closure of skull sutures (craniosynostosis). Investigations found no genetic cause, suggesting a unique presentation of a severe condition.

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Area of Science:

Pediatric Neurology
Developmental Biology
Medical Genetics

Background:

Congenital skull anomalies present a spectrum of severity and etiology.
Acalvaria (partial or complete absence of calvarial bones) and craniosynostosis (premature fusion of cranial sutures) are distinct conditions that can occur together.

Observation:

A 3-year-old boy presented with localized partial acalvaria and sagittal craniosynostosis.
Neuro-imaging revealed significant cerebral hemisphere protrusion and parenchymal changes.
Minor facial dysmorphism and no digital abnormalities were noted, but global developmental delay was evident.

Findings:

The unique combination of acalvaria and craniosynostosis in a surviving child is exceptionally rare.
Standard genetic testing for fibroblast growth factor receptor (FGFR) mutations was negative.
The etiology of this complex craniofacial malformation remains unexplained.

Implications:

This case highlights the potential for rare, severe presentations of congenital skull malformations.
Further research is needed to understand the underlying mechanisms and genetic factors involved.
This presentation may represent a variant of a typically lethal condition, offering insights into developmental pathways.