SCHINZEL-GIEDION SYNDROME AND CONGENITAL MEGACALYCES

被引：21

作者：

HERMAN, TE ^{[1
]}

SWEETSER, DA ^{[1
]}

MCALISTER, WH ^{[1
]}

DOWTON, SB ^{[1
]}

机构：

[1] WASHINGTON UNIV,SCH MED,ELIZABETH MALLINCKRODT DEPT PEDIAT,DIV GENET,ST LOUIS,MO 63110

来源：

PEDIATRIC RADIOLOGY | 1993年 / 23卷 / 02期

关键词：

D O I：

10.1007/BF02012399

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

The Schinzel-Giedion syndrome is a rare autosomal recessive condition with typical facies, skeletal manifestations and congenital hydronephrosis. We report an infant with characteristic findings who had bilateral congenital megacalyces. Congenital megacalyces is believed to be a developmental abnormality, occurs in other malformation syndromes and has not previously been described in the Schinzel-Giedion syndrome.

引用

页码：111 / 112

页数：2

共 9 条

[1] FURTHER CASE OF A NEW SYNDROME INCLUDING MIDFACE RETRACTION, HYPER-TRICHOSIS, AND SKELETAL ANOMALIES [J].

DONNAI, D ;

HARRIS, R .

JOURNAL OF MEDICAL GENETICS, 1979, 16 (06) :483-486

[2] CONGENITAL HYDRONEPHROSIS, SKELETAL DYSPLASIA, AND SEVERE DEVELOPMENTAL RETARDATION - THE SCHINZEL-GIEDION SYNDROME [J].

KELLEY, RI ;

ZACKAI, EH ;

CHARNEY, EB .

JOURNAL OF PEDIATRICS, 1982, 100 (06) :943-946

[3]

KIMSCHE D, 1982, UROLOGY, V19, P478

[4] CONGENITAL MEGACALYCES [J].

KOZAKEWICH, HP ;

LEBOWITZ, RL .

PEDIATRIC RADIOLOGY, 1974, 2 (04) :251-258

[5] FAMILIAL MEGACALYCES WITH AUTOSOMAL RECESSIVE INHERITANCE - REPORT OF 3 AFFECTED SIBLINGS [J].

LAM, AH .

PEDIATRIC RADIOLOGY, 1988, 19 (01) :28-30

[6] THE SCHINZEL-GIEDION SYNDROME - A CASE-REPORT AND REVIEW OF THE LITERATURE [J].

PUL, M ;

YILMAZ, N ;

KOMSUOGLU, B .

CLINICAL PEDIATRICS, 1990, 29 (04) :235-239

[7] SYNDROME OF SEVERE MIDFACE RETRACTION, MULTIPLE SKULL ANOMALIES, CLUBFEET, AND CARDIAC AND RENAL MALFORMATIONS IN SIBS [J].

SCHINZEL, A ;

GIEDION, A .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1978, 1 (04) :361-375

[8]

TALNER LB, 1972, CLIN RADIOL, V23, P355

[9] THE COEXISTENCE OF CONGENITAL MEGACALYCES AND PRIMARY MEGAURETER [J].

VARGAS, B ;

LEBOWITZ, RL .

AMERICAN JOURNAL OF ROENTGENOLOGY, 1986, 147 (02) :313-316

← 1 →