title: Hypophosphatemic rickets and craniosynostosis: a multicenter case series.
abstract: OBJECTIVE This study examines a series of patients with hypophosphatemic rickets and craniosynostosis to characterize the clinical course and associated craniofacial anomalies. METHODS A 20-year retrospective review identified patients with hypophosphatemic rickets and secondary craniosynostosis at 3 major craniofacial centers. Parameters examined included sex, age at diagnosis of head shape anomaly, affected sutures, etiology of rickets, presenting symptoms, number and type of surgical interventions, and associated diagnoses. A review of the literature was performed to optimize treatment recommendations. RESULTS Ten patients were identified (8 males, 2 females). Age at presentation ranged from 1 to 9 years. The most commonly affected suture was the sagittal (6/10 patients). Etiologies included antacid-induced rickets, autosomal dominant hypophosphatemic rickets, and X-linked hypophosphatemic (XLH) rickets. Nine patients had undergone at least 1 cranial vault remodeling (CVR) surgery. Three patients underwent subsequent surgeries in later years. Four patients underwent formal intracranial pressure (ICP) monitoring, 3 of which revealed elevated ICP. Three patients were diagnosed with a Chiari Type I malformation. CONCLUSIONS Secondary craniosynostosis develops postnatally due to metabolic or mechanical factors. The most common metabolic cause is hypophosphatemic rickets, which has a variety of etiologies. Head shape changes occur later and with a more heterogeneous presentation compared with that of primary craniosynostosis. CVR may be required to prevent or relieve elevated ICP and abnormalities of the cranial vault. Children with hypophosphatemic rickets who develop head shape abnormalities should be promptly referred to a craniofacial specialist.
authors.affiliation: Departments of 1 Neurosurgery and.
authors.forename: Rafael A
authors.initials: RA
authors.lastname: Vega
authors.affiliation: Departments of 1 Neurosurgery and.
authors.forename: Charles
authors.initials: C
authors.lastname: Opalak
authors.affiliation: Craniofacial and Pediatric Plastic Surgery, Dell Children's Medical Center of Central Texas, Austin, Texas; and.
authors.forename: Raymond J
authors.initials: RJ
authors.lastname: Harshbarger
authors.affiliation: The Craniofacial Center, Medical City Children's Hospital, Dallas, Texas.
authors.forename: Jeffrey A
authors.initials: JA
authors.lastname: Fearon
authors.affiliation: Departments of 1 Neurosurgery and.
authors.forename: Ann M
authors.initials: AM
authors.lastname: Ritter
authors.affiliation: Departments of 1 Neurosurgery and.
authors.forename: John J
authors.initials: JJ
authors.lastname: Collins
authors.affiliation: Surgery, Division of Plastic and Reconstructive Surgery, Children's Hospital of Richmond, Virginia Commonwealth University Health System, Richmond, Virginia;
authors.forename: Jennifer L
authors.initials: JL
authors.lastname: Rhodes
mesh_terms: D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D003398:Craniosynostoses / Q000000981:diagnostic imaging / Q000209:etiology* / Q000601:surgery; D005260:Female; D000089703:Fibroblast Growth Factor-23; D006801:Humans; D007223:Infant; D008297:Male; D063730:Rickets, Hypophosphatemic / Q000150:complications* / Q000000981:diagnostic imaging / Q000601:surgery
keywords: CM = Chiari malformation; CM-I = CM Type I; CVR = cranial vault remodeling; FGF23 = fibroblast growth factor 23; ICP = intracranial pressure; XLH = X-linked hypophosphatemic; craniofacial surgery; craniosynostosis; hypophosphatemia; rickets