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Updated: Jul 10, 2026
State of the Art Cranial Ultrasound Imaging in Neonates
Published on: February 2, 2015
Evaluation of the infant with an abnormal skull shape
Michael L Cunningham1, Carrie L Heike
1Division of Craniofacial Medicine, University of Washington Department of Pediatrics, Seattle Children's Craniofacial Center, Seattle, Washington 98105, USA. mcunning@u.washington.edu
Pediatricians can identify most infant head shape abnormalities by examining the child and understanding skull growth. Differentiating positional deformities from craniosynostosis is key, with genetics aiding diagnosis.
Area of Science:
- Pediatric Medicine
- Craniofacial Surgery
- Medical Genetics
Background:
- Atypical skull shapes affect up to 20% of infants.
- Accurate diagnosis is crucial for appropriate management.
- Distinguishing between positional molding and craniosynostosis is essential.
Purpose of the Study:
- To outline the clinical approach for evaluating abnormal infant head shapes.
- To differentiate between environmentally-induced deformities and craniosynostosis.
- To review current genetic findings related to single-suture craniosynostosis.
Main Methods:
- Clinical examination of infants with head shape abnormalities.
- Review of diagnostic criteria for positional deformities and craniosynostosis.
- Analysis of recent literature on the genetics of craniosynostosis.
Main Results:
- Key examination findings help differentiate positional deformity from craniosynostosis.
- Genetic causes of isolated and syndromic single-suture craniosynostosis show overlap.
- A thorough physical exam combined with knowledge of skull growth aids diagnosis.
Conclusions:
- Pediatricians can diagnose most head shape abnormalities through careful examination.
- Molecular genetics is increasingly important for evaluating single-suture fusion.
- Early and accurate diagnosis ensures timely intervention and optimal outcomes.
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