Orthopedic and neurosurgical care of X-linked hypophosphatemia - 29/10/21
pages | 7 |
Iconographies | 8 |
Vidéos | 0 |
Autres | 0 |
Abstract |
X-linked hypophosphatemia (XLH) is due to mutations in the PHEX gene leading to unregulated production of FGF23 and uncontrollable hypophosphatemia. XLH is characterized in children by rickets, short stature, waddling gait, and leg bowing of variable morphology and severity. Phosphate supplements and oral vitamin D analogs partially or, in some cases, fully restore the limb straightness. XLH patients may also be affected by premature, complete, or partial ossification of sutures between cranial bone, which could eventually result in cranial dysmorphia, decreased intracranial volume, and secondary abnormally high intracranial pressure with a cerebral compression.
Our goal is to address the criteria and the management of the skeletal complications associated with XLH, mainly orthopedic and neurosurgical care, and reflect on decision-making and follow-up complexities.
Le texte complet de cet article est disponible en PDF.Keywords : Hypophosphatemia, Rickets, Craniosynostosis, Chiari syndrome, Syringomyelia, Genu valgum, Genu varum, Osteotomy
Plan
Vol 28 - N° 7
P. 599-605 - octobre 2021 Retour au numéroBienvenue sur EM-consulte, la référence des professionnels de santé.
L’accès au texte intégral de cet article nécessite un abonnement.
Bienvenue sur EM-consulte, la référence des professionnels de santé.
L’achat d’article à l’unité est indisponible à l’heure actuelle.
Déjà abonné à cette revue ?