Craniosynostosis and metabolic bone disorder. A review

Abstract

Introduction: 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.

Material and methods: A review of the literature on metabolic forms of craniosynostosis was performed.

Results: 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.

Conclusion: 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.

Keywords: 1-alpha hydroxylase deficiency; ALP; Craniostenosis; Hypophosphatasia; Hypophosphatemic rickets; Mucolipidosis; Mucopolysaccharidosis; Osteopetrosis; PHEX; Pseudohypoparathyroidism; Secondary craniosynostosis; Syndromic synostosis; skull.