High Incidence of Cranial Synostosis and Chiari I Malformation in Children With X-Linked Hypophosphatemic Rickets (XLHR).

ABSTRACT: X-linked hypophosphatemic rickets (XLHR) represents the most common form of genetic hypophosphatemia and causes rickets and osteomalacia in children because of increased FGF23 secretion and renal phosphate wasting. Even though cranial vault and craniovertebral anomalies of potential neurosurgical interest, namely early closure of the cranial sutures and Chiari type I malformation, have been observed in children with XLHR, their actual incidence and characteristics are not established. The aims of this study were to analyze the incidence of cranial and cervico-occipital junction (COJ) anomalies in children with XLHR and describe its features. This is a retrospective study of CT scans of the head and skull in 44 XLHR children followed at the French Reference Center for Rare Diseases of the C

SUBMITTER: Rothenbuhler A 

PROVIDER: S-EPMC7816089 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature