Literature DB >> 3284908

Hyperostosis with hyperphosphatemia: a case report and review of the literature.

Y A Talab1, A Mallouh.   

Abstract

This is a report of a 6-year-old girl with the rare syndrome of hyperostosis with hyperphosphatemia. Only eight cases have been previously reported. The main features of this syndrome are repeated attacks of bone pain and swelling, the radiologic finding of periosteal reaction with cortical hyperostosis, and the laboratory finding of increased serum phosphorus level with normal serum calcium and parathyroid hormone levels. The purpose of this article is to review the clinical picture, laboratory and radiological findings, and the differential diagnosis.

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Year:  1988        PMID: 3284908

Source DB:  PubMed          Journal:  J Pediatr Orthop        ISSN: 0271-6798            Impact factor:   2.324


  5 in total

1.  Infantile cortical hyperostosis - a report of Saudi family.

Authors:  Muneer H ALBagshi; Heji I ALZoayed
Journal:  Sudan J Paediatr       Date:  2015

2.  A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.

Authors:  Robert C Gensure; Outi Mäkitie; Catherine Barclay; Catherine Chan; Steven R Depalma; Murat Bastepe; Hilal Abuzahra; Richard Couper; Stefan Mundlos; David Sillence; Leena Ala Kokko; Jonathan G Seidman; William G Cole; Harald Jüppner
Journal:  J Clin Invest       Date:  2005-05       Impact factor: 14.808

Review 3.  Disorders of phosphate homeostasis in children, part 2: hypophosphatemic and hyperphosphatemic disorders.

Authors:  Richard M Shore
Journal:  Pediatr Radiol       Date:  2022-05-10

Review 4.  Familial tumoral calcinosis and the role of O-glycosylation in the maintenance of phosphate homeostasis.

Authors:  Ilana Chefetz; Eli Sprecher
Journal:  Biochim Biophys Acta       Date:  2008-10-25

5.  Newly discovered mutations in the GALNT3 gene causing autosomal recessive hyperostosis-hyperphosphatemia syndrome.

Authors:  Faysal Gok; Ilana Chefetz; Margarita Indelman; Murat Kocaoglu; Eli Sprecher
Journal:  Acta Orthop       Date:  2009-02       Impact factor: 3.717

  5 in total

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