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Insidious onset of familial craniosynostosis
S R Cohen1, R C Dauser, J L Gorski
1Section of Plastic and Reconstructive Surgery, Scottish Rite Children's Medical Center, Atlanta, Georgia 30342.
Insights
Familial nonsyndromic craniosynostosis can manifest late, causing exorbitism and midfacial retrusion. Increased intracranial pressure, indicated by papilledema and optic nerve sheath swelling, may occur in affected children.
Area of Science:
- Genetics and Developmental Biology
- Ophthalmology
- Neurosurgery
Background:
- Familial nonsyndromic craniosynostosis is a group of genetic disorders characterized by premature fusion of cranial sutures.
- While often diagnosed in infancy, late-onset forms can present diagnostic challenges.
Observation:
- A family (mother, son, daughter) exhibited progressive exorbitism and midfacial retrusion.
- Serial photography documented the insidious onset of these craniofacial changes.
Findings:
- The clinical presentation was consistent with familial nonsyndromic craniosynostosis.
- The daughter (4.5 years old) presented with papilledema due to increased intracranial pressure from reduced cranial vault size.
- The son showed optic nerve sheath swelling on CT scan, also indicative of elevated intracranial pressure.
Implications:
- This case highlights the importance of recognizing late-onset familial nonsyndromic craniosynostosis.
- Early detection and management of increased intracranial pressure are crucial to prevent visual impairment and neurological complications.
- Further research into the genetic underpinnings and phenotypic variability of this condition is warranted.
Abstract:
A mother, son, and daughter are presented, in whom serial photographs document an insidious and late onset of exorbitism and midfacial retrusion consistent with a diagnosis of familial nonsyndromic craniosynostosis. Papilledema was found in the 4.5-year-old daughter because of increased intracranial pressure secondary to a reduction in cranial vault size, whereas optic nerve sheath swelling on CT scan was found in the son.