NEW LETHAL SYNDROME WITH CLOUDY CORNEAE, DIAPHRAGMATIC DEFECTS AND DISTAL LIMB DEFORMITIES

被引：135

作者：

FRYNS, JP ^{[1
]}

MOERMAN, F ^{[1
]}

GODDEERIS, P ^{[1
]}

BOSSUYT, C ^{[1
]}

VANDENBERGHE, H ^{[1
]}

机构：

[1] CATHOLIC UNIV LEUVEN,DEPT PATHOL,B-3000 LOUVAIN,BELGIUM

来源：

HUMAN GENETICS | 1979年 / 50卷 / 01期

关键词：

D O I：

10.1007/BF00295591

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Two female sibs are reported with a possibly new lethal malformation pattern, the major anomalies of which are: coarse face with small eyes and cloudy corneae, cleft soft palate, hypoplasia and absence of lobulation of both lungs, diaphragmatic defects, digitalisation of thumbs and distal limb deformities. © 1979 Springer-Verlag.

引用

页码：65 / 70

页数：6

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[3]

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[4]

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[5]

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[7]

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[8]

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[9]

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[10]

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