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Bone Abstracts (2019) 7 IS13 | DOI: 10.1530/boneabs.7.IS13

ICCBH2019 Invited Speaker Abstracts (1) (18 abstracts)

Craniosynostoses in rare skeletal disorders

Federico Di Rocco

Reference Center for Rare Disorders, Department of Pediatric Neurosurgery, Hôpital Femme Mère Enfant, Université de Lyon, France.

Craniosynostosis, defined as the premature closure of one or more of the cranial sutures, is a rare disease. It can be isolated or associated to some craniofacial syndromes. In some instances the craniosynostosis can be secondary to specific skeletal disorders such as hypophosphatemic rickets, hypophosphatasia, achondroplasia, mucopolysaccharidosis, osteopetrosis etc. In this evenience, the consequences of the craniosynostosis can be extremely variable depending on the underlying disease as well as on the impact of the altered growth of the skull on the intracranial content. In severe forms, the patient may present with a raised intracranial pressure with its known risks of neurocognitive and visual impairment and possible development of a Chiari malformation and syringomyelia. Differently from the primitive forms of craniosynostosis, the diagnosis of secondary craniosynostosis and of its associated complications may be underestimated in skeletal disorders when based on the merely clinical basis, thus ophthalmological and radiological studies should be considered in such patients. Only the careful observation and follow-up by a multispecialized team of experts in metabolic diseases and in the management of craniosynostosis may assure the correct clinical evaluation and establish the early and appropriate surgical indication in selected cases. Indeed, as for the more common form of craniosynostosis also the premature fusion of the cranial sutures associated to skeletal disorders may in fact result in neurological complications when recognized and treated too late.

Disclosure: The author declared no competing interests.

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Volume 7

9th International Conference on Children's Bone Health


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