A CASE OF CONGENITAL FAMILIAL SHORT FEMUR DIAGNOSED PRENATALLY

Citation
Y. Makino et al., A CASE OF CONGENITAL FAMILIAL SHORT FEMUR DIAGNOSED PRENATALLY, Fetal diagnosis and therapy, 13(4), 1998, pp. 206-208
Citations number
16
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Obsetric & Gynecology
Journal title
ISSN journal
1015-3837
Volume
13
Issue
4
Year of publication
1998
Pages
206 - 208
Database
ISI
SICI code
1015-3837(1998)13:4<206:ACOCFS>2.0.ZU;2-R
Abstract
A fetus at 24 weeks of gestation had been suspected of congenital fami lial bilateral short femur. The Japanese mother, 41 years old and 139 cm in height presented with bilateral short femur herself. The mother had two affected aunts and one affected daughter in her family history . Ultrasound examination was given to the mother for the first time at 24 weeks of gestation and it revealed bilateral short femur of 30 mm in length on the right and 31 mm on the left femur of the fetus, Other examinations were entirely normal and the pregnancy resulted in a ful l-term spontaneous vaginal delivery to a male baby. Birth weight was 2 ,790 g and the 1 and 5 min Apgar scores were at 8 and 10, Diagnosis wa s confirmed by skeletal radiographs.