ULTRASONOGRAPHIC FEATURES IN A CASE OF HETEROZYGOUS ACHONDROPLASIA AT 25 WEEKS GESTATION

被引：11

作者：

CORDONE, M

LITUANIA, M

BOCCHINO, G

PASSAMONTI, U

TOMA, P

CAMERA, G

机构：

[1] OSPED GALLIERA,CTR REG GENET UMANA,GENOA,ITALY

[2] IRCCS G GASLINI,SERV RADIOL,GENOA,ITALY

来源：

PRENATAL DIAGNOSIS | 1993年 / 13卷 / 05期

关键词：

PRENATAL DIAGNOSIS; ULTRASOUND; ACHONDROPLASIA;

D O I：

10.1002/pd.1970130512

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Prenatal diagnosis of heterozygous achondroplasia at 25 weeks is described. First-level fetal ultrasonography demonstrated short long bones of the lower limbs. Second-level examination showed a large head; shortened femur, fibula, and tibia; a 'trident'-shaped hand; and an abnormal facial profile.

引用

页码：395 / 401

页数：7

共 7 条

[1]

AICARDI G, 1990, International Journal of Feto-Maternal Medicine, V3, P9

[2]

CAMERA G, 1988, HUMAN ACHONDROPLASIA, P11

[3] SKELETAL DYSPLASIAS [J].