C TRIGONOCEPHALY SYNDROME - REPORT OF A CHILD WITH AGENESIS OF THE CORPUS-CALLOSUM AND TETRALOGY OF FALLOT, AND REVIEW

被引：14

作者：

GLICKSTEIN, J

KARASIK, J

CARIDE, DG

MARION, RW

机构：

[1] MONTEFIORE MED CTR,ALBERT EINSTEIN COLL MED,DEPT PEDIAT,DIV GENET,BRONX,NY 10467

[2] MONTEFIORE MED CTR,ALBERT EINSTEIN COLL MED,DEPT PEDIAT,DIV CARDIOL,BRONX,NY 10467

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1995年 / 56卷 / 02期

关键词：

CRANIOSYNOSTOSIS; MENTAL RETARDATION; CORPUS CALLOSUM AGENESIS; TETRALOGY OF FALLOT; RECESSIVE INHERITANCE;

D O I：

10.1002/ajmg.1320560220

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a new case of the Opitz ''C'' trigonocephaly syndrome. Our patient had agenesis of the corpus callosum, an anomaly seen only twice previously, and tetralogy of Fallot, described only once before. A review sinews that a combination of conotruncal heart defects and midline brain anomalies characterizes patients with this entity. (C) 1995 Wiley-Liss, Inc.

引用

页码：215 / 218

页数：4

共 13 条

[1] FURTHER DELINEATION OF THE C-(TRIGONOCEPHALY) SYNDROME [J].

ANTLEY, RM ;

HWANG, DS ;

THEOPOLD, W ;

GORLIN, RJ ;

STEEPER, T ;

PITT, D ;

DANKS, DM ;

MCPHERSON, E ;

BARTELS, H ;

WIEDEMANN, HR ;

OPITZ, JM .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1981, 9 (02) :147-163

[2] C-TRIGONOCEPHALY SYNDROME - 2 ADDITIONAL CASES [J].

CAMERA, G ;

SERRA, G ;

SELICORNI, A .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1990, 37 (04) :463-464

[3] VARADI SYNDROME (OFD-VI) OR OPITZ TRIGONOCEPHALY SYNDROME - OVERLAPPING MANIFESTATIONS IN 2 COUSINS [J].

CLEPER, R ;

KAUSCHANSKY, A ;

VARSANO, I ;

FRYDMAN, M .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1993, 47 (04) :451-455

[4] OPITZ C-SYNDROME AND PSEUDOHYPOALDOSTERONISM [J].

DEKOSTER, J ;

LEGIUS, E ;

DEZEGHER, F ;

DEVLIEGER, H ;

FRYNS, JP ;

EGGERMONT, E .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1990, 37 (04) :457-459

[5] OPITZ TRIGONOCEPHALY SYNDROME - REPORT OF 2 CASES [J].

FLATZ, SD ;

SCHINZEL, A ;

DOEHRING, E ;

KAMRAN, D ;

EILERS, E .

EUROPEAN JOURNAL OF PEDIATRICS, 1984, 141 (03) :183-185

[6] OPITZ TRIGONOCEPHALY SYNDROME [J].

HAAF, T ;

HOFMANN, R ;

SCHMID, M .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1991, 40 (04) :444-446

[7] C-TRIGONOCEPHALY SYNDROME - CLINICAL VARIABILITY AND POSSIBILITY OF SURGICAL-TREATMENT [J].

LALATTA, F ;

BAGOZZI, DC ;

SALMOIRAGHI, MG ;

TAGLIABUE, P ;

TISCHER, C ;

ZOLLINO, M ;

DIROCCO, C ;

NERI, G ;

OPITZ, JM .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1990, 37 (04) :451-456

[8] OPITZ TRIGONOCEPHALY SYNDROME - CASE REPORT [J].

OBERKLAID, F ;

DANKS, DM .

AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1975, 129 (11) :1348-1349

[9]

OPITZ J M, 1969, Birth Defects Original Article Series, V5, P161

[10]

Preus M, 1975, Birth Defects Orig Artic Ser, V11, P58

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