title: Bilateral coronal and sagittal synostosis in X-linked hypophosphatemic rickets: a case report.
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.
authors: Department of Oral and Maxillofacial Surgery, University Hospital Heidelberg, Germany.
authors: Christian
authors: C
authors: Freudlsperger
authors: Juergen
authors: J
authors: Hoffmann
authors: Gregor
authors: G
authors: Castrillon-Oberndorfer
authors: Michael
authors: M
authors: Engel
mesh_terms: D016723:Bone Remodeling / Q000502:physiology; D018389:Codon, Nonsense / Q000235:genetics; D003398:Craniosynostoses / Q000209:etiology* / Q000601:surgery; D003399:Craniotomy / Q000379:methods; D005091:Exons / Q000235:genetics; D053098:Familial Hypophosphatemic Rickets / Q000150:complications*; D005624:Frontal Bone / Q000002:abnormalities* / Q000601:surgery; D040181:Genetic Diseases, X-Linked / Q000150:complications*; D006801:Humans; D007223:Infant; D009915:Orbit / Q000601:surgery; D010027:Osteotomy / Q000379:methods; D053402:PHEX Phosphate Regulating Neutral Endopeptidase / Q000235:genetics; D010294:Parietal Bone / Q000002:abnormalities* / Q000601:surgery; D019651:Plastic Surgery Procedures / Q000379:methods
chemical_list: D018389:Codon, Nonsense; D053402:PHEX Phosphate Regulating Neutral Endopeptidase; C506231:PHEX protein, human
keywords: Craniosynostosis; Fronto-orbital advancement; Right-angled Z-osteotomies; Subtotal cranial vault remodelling; X-linked hypophosphatemic rickets