Rickets Differential Diagnoses

  • Author: Steven M Schwarz, MD, FAAP, FACN, AGAF; Chief Editor: Jatinder Bhatia, MBBS   more...
 
Updated: Aug 25, 2011
 
 

Diagnostic Considerations

Rare metabolic bone diseases, including hypophosphatasia, have been confused with rickets in infancy. Jansen syndrome is a rare autosomal dominant form of short-limbed dwarfism in which infants present with metaphyseal chondroplasia. Hereditary disorders of vitamin D metabolism have also been described, such as hypophosphatemic vitamin D–resistant rickets.

Severe calcium deficiency can also cause a syndrome that is confused with vitamin D deficiency rickets. Premature infants who are breast fed and do not receive mineral supplements may develop severe phosphorus deficiency that presents as rickets.

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Contributor Information and Disclosures
Author

Steven M Schwarz, MD, FAAP, FACN, AGAF  Professor of Pediatrics, Children's Hospital at Downstate, State University of New York Downstate Medical Center

Steven M Schwarz, MD, FAAP, FACN, AGAF is a member of the following medical societies: American Academy of Pediatrics, American College of Nutrition, American College of Physician Executives, American Gastroenterological Association, American Pediatric Society, Gastroenterology Research Group, New York Academy of Medicine, North American Society for Pediatric Gastroenterology and Nutrition, and Society for Pediatric Research

Disclosure: Curemark, LLC Consulting fee Board membership; Centocor, Inc. Grant/research funds Independent contractor; Johnson & Johnson, Inc. Grant/research funds Independent contractor

Coauthor(s)

Frank R Greer, MD  Professor of Pediatrics, University of Wisconsin School of Medicine; Professor (Affiliate) of Nutritional Sciences, University of Wisconsin College of Agriculture and Life Sciences; Attending Physician in Neonatology, Center for Perinatal Care, Meriter Hospital

Frank R Greer, MD is a member of the following medical societies: American Academy of Pediatrics and American Pediatric Society

Disclosure: Nothing to disclose.

Laurence Finberg, MD  Clinical Professor, Department of Pediatrics, University of California, San Francisco, School of Medicine and Stanford University School of Medicine

Laurence Finberg, MD is a member of the following medical societies: American Medical Association

Disclosure: Nothing to disclose.

Specialty Editor Board

Steven M Schwarz, MD, FAAP, FACN, AGAF  Professor of Pediatrics, Children's Hospital at Downstate, State University of New York Downstate Medical Center

Steven M Schwarz, MD, FAAP, FACN, AGAF is a member of the following medical societies: American Academy of Pediatrics, American College of Nutrition, American College of Physician Executives, American Gastroenterological Association, American Pediatric Society, Gastroenterology Research Group, New York Academy of Medicine, North American Society for Pediatric Gastroenterology and Nutrition, and Society for Pediatric Research

Disclosure: Curemark, LLC Consulting fee Board membership; Centocor, Inc. Grant/research funds Independent contractor; Johnson & Johnson, Inc. Grant/research funds Independent contractor

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Chief Editor

Jatinder Bhatia, MBBS  Professor of Pediatrics, Chief, Section of Neonatology, Department of Pediatrics, Medical College of Georgia

Jatinder Bhatia, MBBS is a member of the following medical societies: American Academy of Pediatrics, American Association for the Advancement of Science, American Dietetic Association, American Pediatric Society, American Society for Clinical Nutrition, American Society for Parenteral and Enteral Nutrition, Society for Pediatric Research, and Southern Society for Pediatric Research

Disclosure: Nothing to disclose.

References

  1. Zmora E, Gorodischer R, Bar-Ziv J. Multiple nutritional deficiencies in infants from a strict vegetarian community. Am J Dis Child. Feb 1979;133(2):141-4. [Medline].

  2. McKay CP, Portale A. Emerging topics in pediatric bone and mineral disorders 2008. Semin Nephrol. Jul 2009;29(4):370-8. [Medline].

  3. Lowdon J. Rickets: concerns over the worldwide increase. J Fam Health Care. Mar-Apr 2011;21(2):25-9. [Medline].

  4. Chapman T, Sugar N, Done S, Marasigan J, Wambold N, Feldman K. Fractures in infants and toddlers with rickets. Pediatr Radiol. Dec 9 2009;[Medline].

  5. Shah BR, Finberg L. Single-day therapy for nutritional vitamin D-deficiency rickets: a preferred method. J Pediatr. Sep 1994;125(3):487-90. [Medline].

  6. Casey CF, Slawson DC, Neal LR. VItamin D supplementation in infants, children, and adolescents. Am Fam Physician. Mar 15 2010;81(6):745-8. [Medline].

  7. Greer FR. Issues in establishing vitamin D recommendations for infants and children. Am J Clin Nutr. Dec 2004;80(6 Suppl):1759S-62S. [Medline].

  8. [Guideline] Wagner CL, Greer FR. Prevention of rickets and vitamin D deficiency in infants, children, and adolescents. Pediatrics. Nov 2008;122(5):1142-52. [Medline].

 
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Findings in patients with rickets.
Anteroposterior and lateral radiographs of the wrist of an 8-year-old boy with rickets demonstrates cupping and fraying of the metaphyseal region.
Radiographs of the knee of a 3.6-year-old girl with hypophosphatemia depict severe fraying of the metaphysis.
Radiograph in a 4-year-old girl with rickets depicts bowing of the legs caused by loading.
 
 
 
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