Craniosynostosis and metabolic bone disorder. A review

Some metabolic bone disorders may result in the premature closure of one or more calvarial sutures during childhood, potentially leading to a cranioencephalic disproportion. The aim of this paper is to review the characteristics and consequences of craniosynostosis associated with metabolic disorder...

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Bibliographic Details
Published in:Neuro-chirurgie 2019-11, Vol.65 (5), p.258-263
Main Authors: Di Rocco, F., Rothenbuhler, A., Cormier Daire, V., Bacchetta, J., Adamsbaum, C., Baujat, G., Rossi, M., Lingart, A.
Format: Article
Language:English
Subjects:
1-alpha hydroxylase deficiency
ALP
Bone Diseases, Metabolic - complications
Bone Diseases, Metabolic - pathology
Cranial Sutures - pathology
Craniostenosis
Craniosynostoses - etiology
Craniosynostoses - pathology
Humans
Hypophosphatasia
Hypophosphatemic rickets
Life Sciences
Minerals - metabolism
Mucolipidosis
Mucopolysaccharidoses - complications
Mucopolysaccharidoses - pathology
Mucopolysaccharidosis
Osteopetrosis
PHEX
Pseudohypoparathyroidism
Rickets - complications
Secondary craniosynostosis
skull
Syndromic synostosis
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Summary:Some metabolic bone disorders may result in the premature closure of one or more calvarial sutures during childhood, potentially leading to a cranioencephalic disproportion. The aim of this paper is to review the characteristics and consequences of craniosynostosis associated with metabolic disorder. A review of the literature on metabolic forms of craniosynostosis was performed. The most common forms of craniosynostosis associated with metabolic bone disorder were isolated sagittal suture fusion with or without scaphocephaly, and sagittal suture fusion associated with coronal suture fusion (oxycephaly) or also with lambdoid suture fusion (pansynostosis). Synostosis may be well-tolerated, but in some subjects results in neurodevelopmental and functional impairment that is sometimes severe. The impact of metabolic synostosis is very variable, depending on the specific underlying metabolic disease, with a large spectrum of morphological and functional consequences. Diagnosis should be early and management should be carried out by a multidisciplinary team with expertise in both rare skeletal disorders and craniosynostosis. The impact of emergent medical therapies recently developed for some of these diseases will be assessed by systematic coherent follow-up of international registries.
ISSN:0028-3770
1773-0619
DOI:10.1016/j.neuchi.2019.09.008