THE VELO-CARDIO-FACIAL (SHPRINTZEN) SYNDROME - CLINICAL VARIABILITY IN 8 PATIENTS

被引：35

作者：

MEINECKE, P

BEEMER, FA

SCHINZEL, A

KUSHNICK, T

机构：

[1] CLIN GENET CTR,UTRECHT,NETHERLANDS

[2] GESUNDHEITSBEHORDE HAMBURG,HUMANGENET UNTERSUCHUNGSSTELLE,FRAUENKLIN ALTONA,D-2000 HAMBURG 50,FED REP GER

[3] UNIV HOSP CHILDREN & YOUTH HET WILHELMINA KINDERZIEKENHUIS,3501 CA UTRECHT,NETHERLANDS

[4] UNIV ZURICH,INST MED GENET,CH-8001 ZURICH,SWITZERLAND

[5] UNIV ZURICH,DEPT PEDIAT,CH-8001 ZURICH,SWITZERLAND

[6] E CAROLINA UNIV,SCH MED,DEPT PEDIAT,DIV MED GENET,GREENVILLE,NC 27834

来源：

EUROPEAN JOURNAL OF PEDIATRICS | 1986年 / 145卷 / 06期

关键词：

D O I：

10.1007/BF02429059

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

页码：539 / 544

页数：6

共 10 条

[1]

ARVYSTAS M, 1984, J CRAN GENET DEV BIO, V4, P39

[2] ADDITIONAL EYE FINDINGS IN A GIRL WITH THE VELO-CARDIO-FACIAL SYNDROME [J].

BEEMER, FA ;

DENEF, JJEM ;

DELLEMAN, JW ;

BLEEKERWAGEMAKERS, EM ;

SHPRINTZEN, RJ .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1986, 24 (03) :541-542

[3] VELO-CARDIO-FACIAL SYNDROME AND EYE ABNORMALITY [J].

FITCH, N .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1983, 15 (04) :669-669

[4]

GOLDINGKUSHNER KJ, 1985, J CRAN GENET DEV BIO, V5, P259

[5]

SHPRINTZEN RJ, 1981, PEDIATRICS, V67, P167

[6]

SHPRINTZEN RJ, 1978, CLEFT PALATE J, V15, P56

[7] FAMILIAL SYNDROME OF RIGHT-SIDED AORTIC ARCH MENTAL DEFICIENCY AND FACIAL DYSMORPHISM [J].

STRONG, WB .

JOURNAL OF PEDIATRICS, 1968, 73 (06) :882-+

[8]

WILLIAMS MA, 1985, J CRAN GENET DEV BIO, V5, P175

[9]

WRAITH JE, 1985, CLIN GENET, V27, P408

[10] CARDIAC-MALFORMATIONS IN THE VELOCARDIOFACIAL SYNDROME [J].

YOUNG, D ;

SHPRINTZEN, RJ ;

GOLDBERG, RB .

AMERICAN JOURNAL OF CARDIOLOGY, 1980, 46 (04) :643-648

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