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Trial Lecture – time and place
See Trial Lecture.
Adjudication committee
- First opponent: Professor Andrew Oliver Mungo Wilkie, University of Oxford, UK
- Second opponent: Professor Federico Di Rocco, Centre Hospitalier Universitaire - Hospices Civil de Lyon, France
- Third member and chair of the evaluation committee: Professor II Mona K. Beyer, University of Oslo
Chair of the Defence
Professor II Harriet Akre, University of Oslo
Principal Supervisor
Senior Consultant Ketil Riddervold Heimdal, Oslo University Hospital
Summary
Craniosynostosis (CS) is caused by the premature fusion of one or several cranial sutures and is one of the most common inborn anomalies in children. Syndromic CS is associated with additional anomalies and difficulties, while nonsyndromic CS usually implies no additional findings.
Determining the exact cause of a child’s disorder is important, as this often impacts treatment, prognosis, implications for the family and social care. The introduction of high-throughput sequencing (HTS), enabling a large number of genes to be investigated simultaneously, has resulted in increased knowledge of the genetic causes of CS.
The epidemiology of CS has not previously been reported from any Scandinavian country, and the numbers published from other parts of the world are divergent.
All children and families with CS in Norway receive diagnostics, treatment and follow-up from the Norwegian National Unit for Craniofacial Surgery located at Oslo University Hospital. The Unit`s prospective registry was used to retrieve information from all consenting individuals born from 2002 to 2019. Syndromic CS was defined by a set of clinical criteria.
We detected one of the highest incidences of CS reported: 5.5 per 10 000 live births. In addition, the incidence increased significantly during the study period. We also found one of the highest proportions of syndromic CS cases (27%) reported from a defined population. In the group of syndromic CS, an established genetic diagnosis was confirmed in 92% of the investigated children, including 10 novel monogenic causes of syndromic CS.
The genetic causes were distributed between a high number of different genes, often associated with rare or ultra-rare syndromes, confirming that syndromic CS is highly heterogeneous. Thus, a broad genetic test strategy is needed to detect all causes. This knowledge expanded the molecular diagnostics routinely offered to children with syndromic CS in Norway.
Additional information
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