Pseudoachondroplasia: Similar radiographic findings to mucopolysaccharidosis.

  • Published In: Pediatrics International, 2024, v. 66, n. 1. P. 1 1 of 3

  • Database: Academic Search Ultimate 2 of 3

  • Authored By: Matsumoto, Hideki; Hori, Tomohiro; Mori, Mai; Sasai, Hideo; Ohnishi, Hidenori 3 of 3

Abstract

The article focuses on the diagnosis of pseudoachondroplasia in a 1-year and 9-month-old girl who presented with short stature and an abnormal gait. Topics include the clinical and radiographic features of pseudoachondroplasia, genetic testing for the COMP gene, and the differential diagnosis with conditions like mucopolysaccharidosis type IV.

Additional Information

  • Source:Pediatrics International. 2024/01, Vol. 66, Issue 1, p1
  • Document Type:Article
  • Subject Area:Health and Medicine
  • Publication Date:2024
  • ISSN:1328-8067
  • DOI:10.1111/ped.15799
  • Accession Number:181824359

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