ANTENATAL DIAGNOSIS OF LETHAL OSTEOPETROSIS

Authors
SEN C MADAZLI R AKSOY F OCAK V
Citation
C. Sen et al., ANTENATAL DIAGNOSIS OF LETHAL OSTEOPETROSIS, Ultrasound in obstetrics & gynecology, 5(4), 1995, pp. 278-280
Citations number
NO
Categorie Soggetti
Acoustics,"Obsetric & Gynecology","Radiology,Nuclear Medicine & Medical Imaging
Journal title
Ultrasound in obstetrics & gynecology → ACNP
ISSN journal
09607692
Volume
5
Issue
4
Year of publication
1995
Pages
278 - 280
Database
ISI
SICI code
0960-7692(1995)5:4<278:ADOLO>2.0.ZU;2-G
Abstract
We describe a case of the lethal form of osteopetrosis diagnosed prena tally by ultrasonography. Anomalies detected on ultrasound examination at 18 weeks' gestation included skeletal hyperdensity, communicating hydrocephalus and short long bones. Ar 21 weeks' gestation, cordocente sis was performed to measure the levels of calcium, phosphorus and alk aline phosphatase. The fetus was aborted at 22 weeks' gestation. The d iagnosis of osteopetrosis was confirmed by postmortem radiological and histopathological analysis.