产前经阴道诊断缺指（趾）-外胚层发育不良-腭裂（EEC）综合征。

Prenatal transvaginal diagnosis of the ectrodactyly, ectodermal dysplasia, cleft palate (EEC) syndrome.

作者信息

Bronshtein M, Gershoni-Baruch R

机构信息

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

出版信息

Prenat Diagn. 1993 Jun;13(6):519-22. doi: 10.1002/pd.1970130614.

DOI:10.1002/pd.1970130614

PMID:8372078

Abstract

Transvaginal ultrasonography performed at 14 weeks' gestation demonstrated a bilateral cleft lip and lobster-claw deformities of the hands and feet, in keeping with the diagnosis of EEC syndrome (ectrodactyly or lobster-claw deformity, ectodermal dysplasia, and cleft lip and palate). The fetus was aborted and the diagnosis of EEC syndrome was confirmed.

摘要

孕14周时进行的经阴道超声检查显示双侧唇裂以及手足呈龙虾爪样畸形，符合EEC综合征（缺指（趾）畸形或龙虾爪样畸形、外胚层发育不良以及唇腭裂）的诊断。胎儿被终止妊娠，EEC综合征的诊断得以确诊。