Craniosynostosis as the Presenting Feature of X-linked Hypophosphatemic Rickets

Vakharia, Janaki D.; Matlock, Kristal; Taylor, Helena O.; Backeljauw, Philippe; Topor, Lisa Swartz

doi:10.1542/peds.2017-2522

Cited by 21 publications

(30 citation statements)

References 22 publications

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“…84 Adult patients can present symptoms of osteomalacia, including myopathy, bone pain, neurological complications and insufficiency fractures, due to enthesopathy and ectopic calcification. 85 In addition, primary craniosynostosis has been reported to be present at or soon after birth, 86 and mineralizing enthesopathy, osteoarthropathy and ossification of the spinal ligaments have also been reported during adulthood. 87,88…”

Section: Dental-craniofacial Disorder-related Rare Diseasesmentioning

confidence: 99%

Dental-craniofacial manifestation and treatment of rare diseases

et al. 2019

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Rare diseases are usually genetic, chronic and incurable disorders with a relatively low incidence. Developments in the diagnosis and management of rare diseases have been relatively slow due to a lack of sufficient profit motivation and market to attract research by companies. However, due to the attention of government and society as well as economic development, rare diseases have been gradually become an increasing concern. As several dental-craniofacial manifestations are associated with rare diseases, we summarize them in this study to help dentists and oral maxillofacial surgeons provide an early diagnosis and subsequent management for patients with these rare diseases.

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Section: Dental-craniofacial Disorder-related Rare Diseasesmentioning

confidence: 99%

Dental-craniofacial manifestation and treatment of rare diseases

et al. 2019

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“…XLH accounts for >80% of heritable hypophosphatemic bone disease and occurs in ~1 per 20,000 births . Early in childhood, there is skeletal deformity (primarily lower extremity bowing), decreased growth velocity, and sometimes bone and joint pain, dental abscesses, and craniosynostosis . During adult life, common complications of XLH include pseudofractures, osteoarthritis, vertebral ankylosis, and enthesopathy that can lead to spinal stenosis …”

Section: Introductionmentioning

confidence: 99%

X-Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3′-UTR Mutation c.*231A>G (A Retrospective Case–Control Study)

Smith

Gottesman

Zhang

et al. 2020

Journal of Bone and Mineral Research

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X-linked hypophosphatemia (XLH), the most prevalent heritable renal phosphate (Pi) wasting disorder, is caused by deactivating mutations of PHEX. Consequently, circulating phosphatonin FGF23 becomes elevated and hypophosphatemia in affected children leads to rickets with skeletal deformity and reduced linear growth while affected adults suffer from osteomalacia and forms of ectopic mineralization. In 2015, we reported uniquely mild XLH in six children and four of their mothers carrying the non-coding PHEX 3 0 -UTR mutation c.*231A>G. Herein, we characterize this mild XLH variant by comparing its features in 30 individuals to 30 age-and sexmatched patients with XLH but without the 3 0 -UTR mutation. The "UTR" and "XLH" groups, both comprising 17 children (2 to 17 years, 3 girls) and 13 adults (23 to 63 years, 10 women), had mean ages of 23 years. Only 43% of the UTR group versus 90% of the XLH group had received medical treatment for their disorder, including 0% versus 85% of the females, respectively (ps < .0001). The UTR group was taller: mean AE SD height Z-score (HZ) −1.0 AE 1.0 versus −2.0 AE 1.4 (p = .0034), with significantly greater height for females (−0.9 AE 0.7 versus −2.3 AE 1.4; p = .0050) but not males (−1.2 AE 1.1 versus −1.9 AE 1.5; p = .1541), respectively. Mean AE SD "arm span Z-score" (AZ) did not differ between the UTR −0.8 AE 1.3 versus XLH −1.3 AE 1.8 groups (p = .2269). Consequently, the UTR group was more proportionate with a mean ΔZ (AZ -HZ) of 0.1 AE 0.6 versus 0.7 AE 1.0 (p = .0158), respectively. Compared to the XLH group, the UTR group had significantly higher fasting serum Pi and renal tubular threshold maximum for phosphorus per glomerular filtration rate (TmP/GFR) (ps ≤ .0060), serum FGF23 concentrations within the reference range (p = .0068), and similar serum alkaline phosphatase levels (p = .6513). UTR lumbar spine bone mineral density Z-score was higher (p = .0343). Thus, the 3 0 -UTR variant of XLH is distinctly mild, especially in girls and women, posing challenges for its recognition and management.

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“…21 Other articles in this supplement similarly raise our level of practice. These include a report of craniosynostosis as the presenting feature of hypophosphotemic rickets, 22 autoimmune pancreatitis and ulcerative colitis in a teen, 23 histoplasmosis myocarditis after a "mud run, " 24 recalcitrant atopic conjunctivitis, 25 and the development of hemophagocytic lymphohistiocytosis in a neonate due to adenovirus. 26…”

Section: Elevating Pediatric Practicementioning

confidence: 99%

The Case for the Case Report

Malatack

2018

Pediatrics

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Case reports at one time could be found in many if not most medical journals. I found that 40 years ago, the top 10 pediatric journals all published case reports (many with designated case report sections), and 30% of the articles published in the 10 journals collectively were case reports. Twenty years ago, these same journals had reduced their case report publications, averaging only 15% of their published articles, with many having dropped a case report section altogether. In 2016, case reports only accounted for 4% of articles published in this same group of journals, with Pediatrics at 11% being the most committed to this format of medical publication. Pediatrics also is the only one of these publications with a designated section for case reports. Pediatrics' recent decision to reduce the number of published case reports from a maximum of 8 an issue to 3 an issue is the latest in this long decline. It appears that 2 forces have had a role in the decline of the case report as a genre of medical publications. The 2 forces include the impact factor, created in the 1990s, and the inability to use statistical methodology to assess the data at hand. The impact factor is a measure of the frequency with which the average article in a journal has been cited from a particular year. It is used to measure the importance or rank of a journal by calculating the times its articles are cited. A 2-year period is used and involves dividing the number of times articles that were cited in that 2-year period after publication by the number of articles that are potentially citable. Case reports are handled, for this purpose, as are original articles. Case Reports, for reasons outlined below, are invariably not going to be cited as often as original articles by the 2-year postpublication period that defines the impact factor. The other force that has led to the decline of case reports is the inability to apply statistical analysis to strengthen the scientific merit of the report. In the words of one of my coeditors, "You can't tell anything from a single case." The error in this reasoning is the supposition that a case report and an original article have anything in common. They don't.

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Craniosynostosis as the Presenting Feature of X-linked Hypophosphatemic Rickets

Cited by 21 publications

References 22 publications

Dental-craniofacial manifestation and treatment of rare diseases

Dental-craniofacial manifestation and treatment of rare diseases

X-Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3′-UTR Mutation c.*231A>G (A Retrospective Case–Control Study)

The Case for the Case Report

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Craniosynostosis as the Presenting Feature of X-linked Hypophosphatemic Rickets

Cited by 21 publications

References 22 publications

Dental-craniofacial manifestation and treatment of rare diseases

Dental-craniofacial manifestation and treatment of rare diseases

X-Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3′-UTR Mutation c.*231A&gt;G (A Retrospective Case–Control Study)

The Case for the Case Report

Contact Info

Product

Resources

About

X-Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3′-UTR Mutation c.*231A>G (A Retrospective Case–Control Study)