title: Craniosynostosis in vitamin D-resistant rickets. A mouse model.
abstract: Craniosynostosis and associated craniofacial deformities, such as frontal bossing, often occur as symptoms of vitamin D-resistant rickets in children. Similar skull deformities develop in mice with X-linked dominant hypophosphatemia, the most common form of vitamin D-resistant rickets. These mice have a short, wide, high neurocranium, which suggested an inhibition of coronal suture growth. To study this question, we compared histologically the postnatal development of the coronal sutures in normal and hypophosphatemic mice between 1 and 13 weeks of age. Premature fusion of the coronal suture occurred in hypophosphatemic mice by 4 weeks of age. The proportion of the suture obliterated by bone varied among individual animals, but craniosynostosis was present in all animals studied at 4 weeks and older. Fusion of the coronal suture did not occur through 13 weeks of age in any of the normal mice studied. The x-linked hypophosphatemic mouse is an animal model that can be used to study the role of vitamin D-resistant rickets in the development of craniosynostosis, to relate craniosynostosis to the development of associated skull deformities, and to test new treatment procedures.
mesh_terms: D000818:Animals; D003393:Cranial Sutures / Q000473:pathology; D003398:Craniosynostoses / Q000209:etiology* / Q000473:pathology; D004195:Disease Models, Animal; D006801:Humans; D007015:Hypophosphatemia, Familial / Q000150:complications*; D051379:Mice; D008810:Mice, Inbred C57BL; D012886:Skull / Q000473:pathology