Distinctive metaphyseal chondrodysplasia simulating cartilage hair hypoplasia

被引：7

作者：

Castriota-Scanderbeg, A

Dallapiccola, B

Mingarelli, R

Kozlowski, K

机构：

[1] Fdn IRCCS S Lucia, Dept Radiol, Rome, Italy

[2] Univ La Sapienza, Dept Expt Med & Pathol, Rome, Italy

[3] CSS Mendel Inst, Rome, Italy

[4] Royal Alexandra Hosp Children, Dept Radiol, Sydney, NSW, Australia

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 2001年 / 99卷 / 04期

关键词：

metaphyseal dysplasia; cartilage hair hypoplasia; cone-shaped epiphyses; metaphyseal dysplasia type Schmid;

D O I：

10.1002/ajmg.1212

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. (C) 2001 Wiley-Liss, Inc.

引用

页码：289 / 293

页数：5

共 6 条

[1] METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE CLINICAL AND RADIOGRAPHIC DELINEATION WITH A REVIEW OF THE LITERATURE [J].