Hypophosphatemic rickets in opsismodysplasia

Martha Dechert Zeger, Deanna Adkins, Lynn A. Fordham, Kenneth E. White, Eckhard Schoenau, Frank Rauch, Karen J. Loechner

Research output: Contribution to journalArticle

13 Scopus citations

Abstract

Background: Opsismodysplasia is a rare spondylo(epi)chondrodysplasia characteristized by delayed skeletal maturation and a constellation of dysplastic features. Although metaphyseal irregularities/cupping have been noted, neither renal phosphate wasting nor rickets have previously been reported. Objective: To evaluate hypophosphatemia and rickets in opsismodysplasia. Patients: Two girls with opsismodysplasia presenting with hypophoshpatemia by 3 years of age. Methods: Routine biochemistries to assess hypophosphatemia and renal phosphate wasting; radiographs (rachitic changes) and DEXA scan (BMD); FGF23 levels, PHEX and FGF23 gene analyses performed (Patient 1). Results: Both children had hypophosphatemia, decreased TRP, and rickets. Oral phosphorus and calcitriol improved metaphyseal mineralization, yet serum phosphate levels remained relatively low and renal phosphate wasting persisted. PHEX and FGF23 gene analyses were negative, whereas serum FGF23 levels were markedly elevated in Patient 1. Conclusion: We now demonstrate an association between opsismodysplasia, hypophosphatemic rickets, and FGF23 elevation. Screening phosphorus levels may thus uncover a potentially treatable component of this disease.

Original languageEnglish (US)
Pages (from-to)79-86
Number of pages8
JournalJournal of Pediatric Endocrinology and Metabolism
Volume20
Issue number1
DOIs
StatePublished - Jan 2007

Keywords

  • FGF23
  • Hypophosphatemic rickets
  • Osteopenia
  • PHEX
  • Phosphatonin
  • Spondylo(epi)chondrodysplasia

ASJC Scopus subject areas

  • Endocrinology
  • Pediatrics, Perinatology, and Child Health

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    Zeger, M. D., Adkins, D., Fordham, L. A., White, K. E., Schoenau, E., Rauch, F., & Loechner, K. J. (2007). Hypophosphatemic rickets in opsismodysplasia. Journal of Pediatric Endocrinology and Metabolism, 20(1), 79-86. https://doi.org/10.1515/JPEM.2007.20.1.79