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Cranial Manifestations of X-linked Hypophosphatemic Rickets
Gregory M. Beddell, MD
Ananth S. Murthy, MD
Summa Health System Plastic Surgery Residency
2013-02-28
Presenter: Gregory M. Beddell
Affidavit:
Greater than 80% of the work was performed by the resident.
Director Name: Douglas Wagner
Author Category: Resident Plastic Surgery
Presentation Category: Clinical
Abstract Category: Craniomaxillofacial
Background: Normal bone mineralization involves complex interactions between fibroblast growth factor 23, phosphate endopeptidases (PHEX), and extracellular phosphoglycoprotein. A mutation in the PHEX gene can lead to a disruption in phosphate metabolism and downstream bone mineralization leading to X-linked hypophophatemic rickets (XLH). XLH is caused by a loss-of-function mutation in PHEX gene and is the most common form of metabolic rickets. Individuals with XLH can develop short stature and genu varum. In addition to these findings, it has been reported that premature closure of cranial sutures can also occur.
Methods: A 10-year retrospective chart review of patients treated for XLH at Akron Children's Hospital was performed. Hospital records screened with ICD-9 codes for rickets and disorders of phosphorus metabolism yielded 128 patients. Fifteen out of 128 patients were found to have XLH. The charts of these 15 patients were examined for physical findings, cranial indices, radiologic findings, medications, and laboratory values.
Results: Four out of 15 patients had documented abnormal head shapes. Six out of 15 actually had radiologic studies. Five of these six patients had radiologic abnormalities including scaphocephaly, hyperostosis, harlequin deformities, Klebattschadel deformity and one case of poorly ossified cranial bones. A correlation between calcium and phosphate levels could not be made with patients that developed these abnormalities.
Conclusions: Patients with XLH appear to have cranial abnormalities. Eighty-three percent (5/6) of patients with available imaging had identified abnormalities. These findings support the recommendation that regular cranial imaging is warranted in patients with XLH.
