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Craniosynostosis and metabolic bone disorder. A review.
Neurochirurgie 2019; 65(5):258-263N

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.

Authors+Show Affiliations

Inserm 1033, neurochirurgie pédiatrique, centre de référence pour les craniosténoses, Lyon et université Claude Bernard Lyon 1, hôpital femme-mère-enfant, 69003 Lyon, France. Electronic address: federico.dirocco@chu-lyon.fr.Endocrinologie et diabète de l'enfant, filière OSCAR et plateforme d'expertise Paris Sud maladies rares, centre de référence des maladies rares du calcium et du phosphate, hôpital Bicêtre Paris Sud, AP-HP, 94270 Le Kremlin Bicêtre, France.Centre de référence maladies osseuses constitutionnelles, institut imagine, 75015 Paris, France.Inserm 1033, centre de référence des maladies rares du calcium et du phosphate, université Claude Bernard Lyon 1, hôpital femme-mère-enfant, 69003 Lyon, France.Service de radiologie pédiatrique, université Paris-Saclay, hôpital Bicêtre, AP-HP, 94270 Le Kremlin Bicêtre, France.Centre de référence maladies osseuses constitutionnelles, institut imagine, 75015 Paris, France.GENDEV Team, CNRS UMR5292, CRNL, UCBL1, Inserm U1028, service de génétique, centre de référence anomalies du développement, centre de compétence maladies osseuses constitutionnelles, hospices civils de Lyon, 69003 Lyon, France.Endocrinologie et diabète de l'enfant, filière OSCAR et plateforme d'expertise Paris Sud maladies rares, centre de référence des maladies rares du calcium et du phosphate, hôpital Bicêtre Paris Sud, AP-HP, 94270 Le Kremlin Bicêtre, France; Service de radiologie pédiatrique, université Paris-Saclay, hôpital Bicêtre, AP-HP, 94270 Le Kremlin Bicêtre, France; Inserm U1185, université Paris Sud Paris-Saclay, 94270 Le Kremlin Bicêtre, France.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

31562881

Citation

Di Rocco, F, et al. "Craniosynostosis and Metabolic Bone Disorder. a Review." Neuro-Chirurgie, vol. 65, no. 5, 2019, pp. 258-263.
Di Rocco F, Rothenbuhler A, Cormier Daire V, et al. Craniosynostosis and metabolic bone disorder. A review. Neurochirurgie. 2019;65(5):258-263.
Di Rocco, F., Rothenbuhler, A., Cormier Daire, V., Bacchetta, J., Adamsbaum, C., Baujat, G., ... Lingart, A. (2019). Craniosynostosis and metabolic bone disorder. A review. Neuro-Chirurgie, 65(5), pp. 258-263. doi:10.1016/j.neuchi.2019.09.008.
Di Rocco F, et al. Craniosynostosis and Metabolic Bone Disorder. a Review. Neurochirurgie. 2019;65(5):258-263. PubMed PMID: 31562881.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Craniosynostosis and metabolic bone disorder. A review. AU - Di Rocco,F, AU - Rothenbuhler,A, AU - Cormier Daire,V, AU - Bacchetta,J, AU - Adamsbaum,C, AU - Baujat,G, AU - Rossi,M, AU - Lingart,A, Y1 - 2019/09/25/ PY - 2019/07/15/received PY - 2019/09/12/revised PY - 2019/09/15/accepted PY - 2019/9/29/pubmed PY - 2019/9/29/medline PY - 2019/9/29/entrez KW - 1-alpha hydroxylase deficiency KW - ALP KW - Craniostenosis KW - Hypophosphatasia KW - Hypophosphatemic rickets KW - Mucolipidosis KW - Mucopolysaccharidosis KW - Osteopetrosis KW - PHEX KW - Pseudohypoparathyroidism KW - Secondary craniosynostosis KW - Syndromic synostosis KW - skull SP - 258 EP - 263 JF - Neuro-Chirurgie JO - Neurochirurgie VL - 65 IS - 5 N2 - 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. SN - 1773-0619 UR - https://www.unboundmedicine.com/medline/citation/31562881/Craniosynostosis_and_metabolic_bone_disorder._A_review L2 - https://linkinghub.elsevier.com/retrieve/pii/S0028-3770(19)30219-X DB - PRIME DP - Unbound Medicine ER -