Literature DB >> 11251995

Distinctive metaphyseal chondrodysplasia simulating cartilage hair hypoplasia.

A Castriota-Scanderbeg1, B Dallapiccola, R Mingarelli, K Kozlowski.   

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. Copyright 2001 Wiley-Liss. Inc.

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Year:  2001        PMID: 11251995     DOI: 10.1002/ajmg.1212

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  1 in total

1.  'Metaphyseal dysplasia without hypotrichosis' can present with late-onset extraskeletal manifestations.

Authors:  Svetlana Vakkilainen; Alice Costantini; Mervi Taskinen; Ulla Wartiovaara-Kautto; Outi Mäkitie
Journal:  J Med Genet       Date:  2019-08-14       Impact factor: 6.318

  1 in total

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