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Craniosynostosis: A rare complication of pycnodysostosis
- Source :
- European journal of medical genetics. 53(2)
- Publication Year :
- 2009
-
Abstract
- Uncommon features of rare genetic disorders are often poorly known, as the likelihood of having them reported is low. We describe a 7-year-old boy with clinical and radiological diagnosis of pycnodysostosis, and c.436G>C (p.G146R) mutation in CSTK). He developed intracranial hypertension that required surgical decompression. Despite patent fontanels, the cause of the intracranial hypertension was identified to be a combination of coronal and metopic craniosynostoses. Intracranial hypertension and craniosynostosis have only been reported once in pycnodysostosis, which is on the contrary characterized by delayed closure of the sutures and persistence of open fontanels. Our observation confirms that intracranial hypertension represents a rare but life-threatening complication of pycnodysostosis. We strongly suggest including systematic examination of fundus oculi and monitoring of OFC in the systematic clinical follow-up of these patients.
- Subjects :
- Male
Pediatrics
medicine.medical_specialty
Time Factors
Craniosynostoses
Bone and Bones
Craniosynostosis
Surgical decompression
Imaging, Three-Dimensional
Genetics
medicine
Humans
Abnormalities, Multiple
Genetics (clinical)
Growth Disorders
business.industry
Skull
Infant
General Medicine
Hand Deformities
medicine.disease
Magnetic Resonance Imaging
Radiography
Face
Pycnodysostosis
Intracranial Hypertension
Complication
business
Subjects
Details
- ISSN :
- 18780849
- Volume :
- 53
- Issue :
- 2
- Database :
- OpenAIRE
- Journal :
- European journal of medical genetics
- Accession number :
- edsair.doi.dedup.....fc70ab12245ff25a7a4176460a51c2a8