EARLY PRENATAL-DIAGNOSIS OF POLYCYSTIC PANCREAS WITH NARROW THORAX AND SHORT LIMB DWARFISM

被引：10

作者：

BRONSTEIN, M

REICHLER, A

BOROCHOWITZ, Z

BEJAR, J

DRUGAN, A

机构：

[1] TECHNION ISRAEL INST TECHNOL,BNAI ZION MED CTR,FAC MED,SIMON WINTER INST HUMAN GENET,IL-31048 HAIFA,ISRAEL

[2] RAMBAM MED CTR,DEPT OBSTET & GYNECOL,IL-31096 HAIFA,ISRAEL

[3] RAMBAM MED CTR,DEPT PATHOL,IL-31096 HAIFA,ISRAEL

[4] RAMBAM MED CTR,DIV GENET,HAIFA,ISRAEL

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1994年 / 49卷 / 01期

关键词：

PRENATAL DIAGNOSIS; POLYCYSTIC PANCREAS; JEUNE SYNDROME; SHORT RIB POLYDACTYLY SYNDROME; ULTRASOUND;

D O I：

10.1002/ajmg.1320490103

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We describe the ultrasound findings of polycystic pancreas with short rib dwarfism in the early second trimester. Radiologic, morphologic, and histologic examination after pregnancy termination confirmed the findings and also disclosed dysplastic kidneys. The skeletal anomalies are similar to those in Verma Naumoff type of short rib polydactyly, but the extraskeletal malformations have never been reported before in this syndrome.

引用

页码：6 / 9

页数：4

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