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Antenatal diagnosis of lethal osteopetrosis
Author(s) -
Sen C.,
Madazli R.,
Aksoy F.,
Ocak V.
Publication year - 1995
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1046/j.1469-0705.1995.05040278.x
Subject(s) - osteopetrosis , medicine , gestation , fetus , ultrasound , obstetrics , radiological weapon , prenatal diagnosis , pregnancy , pathology , radiology , biology , genetics
We describe a case of the lethal form of osteopetrosis diagnosed prenatally by ultrasonography. Anomalies detected on ultrasound examination at 18 weeks' gestation included skeletal hyperdensity, communicating hydrocephalus and short long bones. At 21 weeks' gestation, cordocentesis was performed to measure the levels of calcium, phosphorus and alkaline phosphatase. The fetus was aborted at 22 weeks' gestation. The diagnosis of osteopetrosis was confirmed by postmortem radiological and histopathological analysis. Copyright © 1995 International Society of Ultrasound in Obstetrics and Gynecology