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Parietal foramina

Orpha number ORPHA60015
Synonym(s) Catlin marks
Enlarged parietal foramina
Foramina parietalia permagna
Hereditary cranium bifidum
Prevalence 1-9 / 100 000
Inheritance
  • Autosomal dominant
Age of onset Neonatal/infancy
ICD-10
  • Q75.8
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Enlarged parietal foramina (EPF) is a development defect, characterized by variable intramembranous ossification defect of the parietal bones (diameter > 5 mm) which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability). or associated with other pathologies


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Detailed information

Summary information
Clinical genetics review
  • EN (2013)
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