合并窄胸和短肢侏儒症的多囊胰腺的早期产前诊断。

Early prenatal diagnosis of polycystic pancreas with narrow thorax and short limb dwarfism.

作者信息

Bronstein M, Reichler A, Borochowitz Z, Bejar J, Drugan A

机构信息

Department of Obstetrics and Gynecology, Rambam Medical Center, Haifa, Israel.

出版信息

Am J Med Genet. 1994 Jan 1;49(1):6-9. doi: 10.1002/ajmg.1320490103.

DOI:10.1002/ajmg.1320490103

PMID:8172252

Abstract

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.

摘要

我们描述了孕中期早期多囊胰腺合并短肋发育不全的超声表现。终止妊娠后的放射学、形态学和组织学检查证实了这些发现，并且还发现了发育异常的肾脏。骨骼异常与Verma Naumoff型短肋多指畸形相似，但这种综合征中骨骼外的畸形此前从未有过报道。