POLYASPLENIA, CAUDAL DEFICIENCY, AND AGENESIS OF THE CORPUS-CALLOSUM

被引：18

作者：

RODRIGUEZ, JI ^{[1
]}

PALACIOS, J ^{[1
]}

OMENACA, F ^{[1
]}

LORENTE, M ^{[1
]}

机构：

[1] HOSP LA PAZ,SERV NEONATOL,E-28046 MADRID,SPAIN

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 38卷 / 01期

关键词：

CAUDAL DEFICIENCY SEQUENCE; LATERALITY SEQUENCE; POLYSPLENIA; AGENESIS CORPUS CALLOSUM; MIDLINE DEFECTS;

D O I：

10.1002/ajmg.1320380122

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Fullana et al. [Am J Med Genet (suppl. 2):23-29, 1986] reported on 2 sibs with an autosomal recessive syndrome of caudal deficiency and polyasplenia anomalies. We report on a similar patient in which agenesis of the corpus callosum (ACC) was also found. Such an association has not been reported previously. This finding of ACC is to be interpreted as another midline anomaly rather than as a causally independent malformation.

引用

页码：99 / 102

页数：4

共 13 条

[1] ABSENCE OF THE PITUITARY-GLAND IN A CASE OF CONGENITAL SACRAL AGENESIS [J].

ANDERTON, JM ;

OWEN, R .

JOURNAL OF BONE AND JOINT SURGERY-BRITISH VOLUME, 1983, 65 (02) :182-183

[2]

FRIEDE RL, 1989, DEV NEUROPATHOLOGY, P317

[3]

Fullana A, 1986, Am J Med Genet Suppl, V2, P23

[4]

JONES KL, 1988, SMITHS RECOGNIZABLE, P543

[5]

KHOURY MJ, 1989, PEDIATRICS, V84, P266

[6] X-LINKED LATERALITY SEQUENCE - SITUS-INVERSUS, COMPLEX CARDIAC DEFECTS, SPLENIC DEFECTS [J].

MATHIAS, RS ;

LACRO, RV ;

JONES, KL .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1987, 28 (01) :111-116

[7] A GIRL WITH G-SYNDROME AND AGENESIS OF THE CORPUS-CALLOSUM [J].

NERI, G ;

GENUARDI, M ;

NATOLI, G ;

COSTA, P ;

MAGGIONI, G .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1987, 28 (02) :287-291

[8] CNS ANOMALIES AND THE MIDLINE AS A DEVELOPMENTAL FIELD [J].

OPITZ, JM ;

GILBERT, EF .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1982, 12 (04) :443-455

[9]

OPTIZ JM, 1986, DEV FIELD CONCEPT

[10] POLYSPLENIA - A REVIEW OF 146 CASES [J].

PEOPLES, WM ;

MOLLER, JH ;

EDWARDS, JE .

PEDIATRIC CARDIOLOGY, 1983, 4 (02) :129-137

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