| Online-Ressource |
Verfasst von: | Freudlsperger, Christian [VerfasserIn]  |
| Hoffmann, Jürgen [VerfasserIn]  |
| Castrillón-Oberndorfer, Gregor [VerfasserIn]  |
| Engel, Michael [VerfasserIn]  |
Titel: | Bilateral coronal and sagittal synostosis in X-linked hypophosphatemic rickets |
Titelzusatz: | a case report |
Verf.angabe: | Christian Freudlsperger, Juergen Hoffmann, Gregor Castrillon-Oberndorfer, Michael Engel |
E-Jahr: | 2013 |
Jahr: | December 1, 2013 |
Umfang: | 3 S. |
Teil: | volume:41 |
| year:2013 |
| number:8 |
| pages:842-844 |
| extent:3 |
Fussnoten: | Gesehen am 17.05.2021 |
Titel Quelle: | Enthalten in: Journal of cranio-maxillofacial surgery |
Ort Quelle: | Oxford [u.a.] : Elsevier, 1987 |
Jahr Quelle: | 2013 |
Band/Heft Quelle: | 41(2013), 8, Seite 842-844 |
ISSN Quelle: | 1878-4119 |
Abstract: | Craniosynostosis can be gene-linked, or caused by metabolic diseases, such as rickets, which results from a deficiency or impaired metabolism of vitamin D, magnesium, phosphorus or calcium leading to hypomineralization of the bone. X-linked dominant hypophosphatemic rickets (XLHR) is the most prevalent genetic type of hypophosphatemic rickets and is caused by germ line mutations in the PHEX-gene. In XLHR, only few case reports of craniosynostosis were described. Here, we present a clinical report of an 18 months old child with XLHR and bilateral coronal and sagittal synostosis who was treated by subtotal cranial vault remodelling with fronto-orbital advancement and right-angled Z-osteotomies. As a consequence of the child's diminished bone regeneration capacity, surgery that is performed after the age of 1 year requires more extensive craniectomy, multiple osteotomies and rigid fixation for calvarial vault remodelling to prevent extensive bone defects. |
DOI: | doi:10.1016/j.jcms.2013.01.039 |
URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
Volltext: https://doi.org/10.1016/j.jcms.2013.01.039 |
| DOI: https://doi.org/10.1016/j.jcms.2013.01.039 |
Datenträger: | Online-Ressource |
Sprache: | eng |
Sach-SW: | Bone Remodeling |
| Codon, Nonsense |
| Craniosynostoses |
| Craniosynostosis |
| Craniotomy |
| Exons |
| Familial Hypophosphatemic Rickets |
| Frontal Bone |
| Fronto-orbital advancement |
| Genetic Diseases, X-Linked |
| Humans |
| Infant |
| Orbit |
| Osteotomy |
| Parietal Bone |
| PHEX Phosphate Regulating Neutral Endopeptidase |
| Reconstructive Surgical Procedures |
| Right-angled Z-osteotomies |
| Subtotal cranial vault remodelling |
| X-linked hypophosphatemic rickets |
K10plus-PPN: | 1757941886 |
Verknüpfungen: | → Zeitschrift |
Bilateral coronal and sagittal synostosis in X-linked hypophosphatemic rickets / Freudlsperger, Christian [VerfasserIn]; December 1, 2013 (Online-Ressource)