Distinctive metaphyseal chondrodysplasia simulating cartilage hair hypoplasia

A. Castriota-Scanderbeg, B. Dallapiccola, R. Mingarelli, K. Kozlowski

Research output: Contribution to journalArticlepeer-review

Abstract

We report on a 5 1/2 year-old Italian girl with a distinctive form of metaphyseal chondrodysplasia simulating cartilage hair hypoplasia. The pattern of metaphyseal changes and the associated bony abnormalities differentiate this patient from all the recognized forms of metaphyseal chondrodysplasia.

Original languageEnglish
Pages (from-to)289-293
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume99
Issue number4
DOIs
Publication statusPublished - Apr 1 2001

Keywords

  • Cartilage hair hypoplasia
  • Cone-shaped epiphyses
  • Metaphyseal dysplasia
  • Metaphyseal dysplasia type Schmid

ASJC Scopus subject areas

  • Genetics(clinical)

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