Bilateral coronal and sagittal synostosis in X-linked hypophosphatemic rickets: a case report
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 preval...
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| Main Authors: | , , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
December 1, 2013
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| In: |
Journal of cranio-maxillofacial surgery
Year: 2013, Volume: 41, Issue: 8, Pages: 842-844 |
| ISSN: | 1878-4119 |
| DOI: | 10.1016/j.jcms.2013.01.039 |
| Online Access: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.jcms.2013.01.039
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| Author Notes: | Christian Freudlsperger, Juergen Hoffmann, Gregor Castrillon-Oberndorfer, Michael Engel |
| Summary: | 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. |
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| Item Description: | Gesehen am 17.05.2021 |
| Physical Description: | Online Resource |
| ISSN: | 1878-4119 |
| DOI: | 10.1016/j.jcms.2013.01.039 |