ASPLENIA SYNDROME AND ISOLATED TOTAL ANOMALOUS PULMONARY VENOUS CONNECTION IN SIBLINGS

被引：9

作者：

DEVRIENDT, K ^{[1
]}

CASAER, A ^{[1
]}

VANCAUTER, A ^{[1
]}

DEZEGHER, F ^{[1
]}

DUMOULIN, M ^{[1
]}

GEWILLIG, M ^{[1
]}

DEVLIEGER, H ^{[1
]}

机构：

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

来源：

EUROPEAN JOURNAL OF PEDIATRICS | 1994年 / 153卷 / 10期

关键词：

ASPLENIA SYNDROME; SITUS INVERSUS; TOTAL ANOMALOUS VENOUS CONNECTION; GENETIC;

D O I：

10.1007/BF01954484

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

We report on a family with asplenia syndrome in one and total anomalous pulmonary venous connection (TAPVC) in the other sib. Both conditions are rare, may have a genetic cause and belong to a spectrum of laterality disorders. This suggests that both asplenia syndrome and TAPVC in this family are the clinical expression of a single genetic disorder.

引用

页码：712 / 714

页数：3

共 26 条

[1] PROBABLE AUTOSOMAL RECESSIVE INHERITANCE OF POLYSPLENIA, SITUS INVERSUS AND CARDIAC DEFECTS IN AN AMISH FAMILY [J].

ARNOLD, GL ;

BIXLER, D ;

GIROD, D .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1983, 16 (01) :35-42

[2]

BROWN NA, 1990, DEVELOPMENT, V109, P1

[3] LINKAGE MAPPING OF A MOUSE GENE, IV, THAT CONTROLS LEFT RIGHT ASYMMETRY OF THE HEART AND VISCERA [J].

BRUECKNER, M ;

DEUSTACHIO, P ;

HORWICH, AL .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1989, 86 (13) :5035-5038

[4] HUMAN SITUS DETERMINATION IS PROBABLY CONTROLLED BY SEVERAL DIFFERENT GENES [J].

CARMI, R ;

BOUGHMAN, JA ;

ROSENBAUM, KR .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 44 (02) :246-247

[5] MAPPING A GENE FOR FAMILIAL SITUS ABNORMALITIES TO HUMAN-CHROMOSOME XQ24-Q27.1 [J].

CASEY, B ;

DEVOTO, M ;

JONES, KL ;

BALLABIO, A .

NATURE GENETICS, 1993, 5 (04) :403-407

[6] SISTERS WITH POLYSPLENIA [J].

DELAMONTE, SM ;

HUTCHINS, GM .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1985, 21 (01) :171-173

[7] DEXTROCARDIA WITH AND WITHOUT SITUS VISCERUM INVERSUS IN 2 SIBS [J].

DISTEFANO, G ;

ROMEO, MG ;

GRASSO, S ;

MAZZONE, D ;

SCIACCA, P ;

MOLLICA, F .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1987, 27 (04) :929-934

[8] EVIDENCE FOR AN ADRENERGIC MECHANISM IN THE CONTROL OF BODY ASYMMETRY [J].

FUJINAGA, M ;

BADEN, JM .

DEVELOPMENTAL BIOLOGY, 1991, 143 (01) :203-205

[9] MORPHOLOGY OF THE CARDIOVASCULAR-SYSTEM IN CONJOINED TWINS - SPATIAL AND SEQUENTIAL SEGMENTAL ARRANGEMENTS IN 36 CASES [J].

GERLIS, LM ;

SEO, JW ;

HO, SY ;

CHI, JG .

TERATOLOGY, 1993, 47 (02) :91-108

[10]

KATCHER AL, 1980, PEDIATRICS, V65, P633

← 1 2 3 →