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Prenatal sonographic diagnosis of thanatophoric dwarfism.

作者信息

Kassanos D, Botsis D, Katassos T, Panayotopoylos N, Zourlas P

机构信息

2nd Department of Obstetrics and Gynecology, University of Athens, Areteion Hospital, Greece.

出版信息

Int J Gynaecol Obstet. 1991 Apr;34(4):373-6. doi: 10.1016/0020-7292(91)90607-7.

DOI:10.1016/0020-7292(91)90607-7
PMID:1674486
Abstract

A case of thanatophoric dwarfism is reported in a 35-year-old woman. The diagnosis was made at 34 weeks gestation by ultrasound. Marked shortening of the extremities, macrocephaly, narrow thorax and polyhydramnios were observed. The importance of routine ultrasound screening in pregnancy is emphasized, since such malformations can be detected prenatally.

摘要

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