RESTRICTIVE DERMOPATHY WITH DISTINCT MORPHOLOGICAL ABNORMALITIES

被引：22

作者：

VANHOESTENBERGHE, MR

LEGIUS, E

VANDEVOORDE, W

EYKENS, A

JAEKEN, J

EGGERMONT, E

DEVOS, R

DEWOLFPEETERS, C

FRYNS, JP

机构：

[1] CATHOLIC UNIV LEUVEN,ZIEKENHUIS GASTHUISBERG,CTR HUMAN GENET,DEPT PEDIAT,B-3000 LOUVAIN,BELGIUM

[2] CATHOLIC UNIV LEUVEN,ZIEKENHUIS GASTHUISBERG,CTR HUMAN GENET,DEPT PATHOL,B-3000 LOUVAIN,BELGIUM

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1990年 / 36卷 / 03期

关键词：

absence of elastic fibres; congenital contractions; fetal hypokinesia sequence;

D O I：

10.1002/ajmg.1320360310

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A newborn child is described with the fetal hypokinesia sequence as a consequence of a restrictive dermopathy. Remarkable findings in this infant were neonatal teeth and survival till age 4 months. Ultrastructural examination of the skin showed thin epidermis and absence of elastic fibres.

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收藏

页码：297 / 300

页数：4

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