Distinctive metaphyseal chondrodysplasia simulating cartilage hair hypoplasia

Authors
Castriota-Scanderbeg, A Dallapiccola, B Mingarelli, R Kozlowski, K
Citation
A. Castriota-scanderbeg et al., Distinctive metaphyseal chondrodysplasia simulating cartilage hair hypoplasia, AM J MED G, 99(4), 2001, pp. 289-293
Citations number
6
Categorie Soggetti
Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF MEDICAL GENETICS
ISSN journal
01487299 → ACNP
Volume
99
Issue
4
Year of publication
2001
Pages
289 - 293
Database
ISI
SICI code
0148-7299(20010401)99:4<289:DMCSCH>2.0.ZU;2-C
Abstract
We report on a 5 1/2 year-old Italian girl with a distinctive form of metap hyseal chondrodysplasia simulating cartilage hair hypoplasia. The pattern o f metaphyseal changes and the associated bony abnormalities differentiate t his patient from all the recognized forms of metaphyseal chondrodysplasia. (C) 2001 Wiley-Liss, Inc.