Search results for "Craniosynostosis"
showing 3 items of 13 documents
The Internet as an additional source of Information on rare illness. A Facebook support group for parents of children with craniosynostosis as a case…
2020
Introduction Empirical studies show that belonging to a support group contributes to patient and caretaker empowerment. They also show that support groups significantly help parents and caretakers of ill children reduce stress and better handle the illness. Aim The aim of the study is to expand knowledge of how social media support groups function, and what impact they have on members. Material and methods Data was collected using online surveys conducted on 54 respondents. Results and discussion In particular, the respondents experienced empowerment in terms of ‘exchanging information’ and ‘finding recognition.’ Thanks to the online group, they felt better prepared to meet with their docto…
FGFR2mutation in 46,XY sex reversal with craniosynostosis
2015
Patients with 46,XY gonadal dysgenesis (GD) exhibit genital anomalies, which range from hypospadias to complete male-to-female sex reversal. However, a molecular diagnosis is made in only 30% of cases. Heterozygous mutations in the human FGFR2 gene cause various craniosynostosis syndromes including Crouzon and Pfeiffer, but testicular defects were not reported. Here, we describe a patient whose features we would suggest represent a new FGFR2-related syndrome, craniosynostosis with XY male-to-female sex reversal or CSR. The craniosynostosis patient was chromosomally XY, but presented as a phenotypic female due to complete GD. DNA sequencing identified the FGFR2c heterozygous missense mutatio…
Waterjet dissection in pediatric cranioplasty
2010
Object Waterjet dissection has been shown to separate tissues of different resistance, with preservation of blood vessels. In cranioplasty, separation of subcutaneous tissue and dura mater is often difficult to achieve because the various tissue layers strongly adhere to each other after decompressive craniotomy. In the present study, the potential advantages and drawbacks of the waterjet technique in cranioplasty after craniectomy and duraplasty are addressed. Methods The waterjet effect on fresh human cadaveric dura mater specimens as well as on several dural repair patches was tested in vitro under standardized conditions, with waterjet pressures up to 80 bar. Subsequently, 8 pediatric …