Prenatal diagnosis of autosomal recessive osteopetrosis, infantile type, by X‐ray evaluation
- 1 May 1995
- journal article
- case report
- Published by Wiley in Prenatal Diagnosis
- Vol. 15 (5) , 477-481
- https://doi.org/10.1002/pd.1970150512
Abstract
Prenatal diagnosis for infantile osteopetrosis was attempted during the third pregnancy of a first‐cousin marriage whose family history revealed an affected previous child. At the 25th week of pregnancy, fetal X‐ray evaluation revealed marked sclerosis of osteopetrotic bone and metaphyseal splaying and clubbing of both femurs. The pregnancy was terminated and repeated X‐rays and histopathological examination of fetal bone (femur) confirmed the diagnosis.Keywords
This publication has 6 references indexed in Scilit:
- Cranial imaging in autosomal recessive osteopetrosis. Part I. Facial bones and calvarium.Radiology, 1992
- Cranial imaging in autosomal recessive osteopetrosis. Part II. Skull base and brain.Radiology, 1992
- Radiographic Manifestations of Congenital Anomalies of the SpineRadiologic Clinics of North America, 1991
- OsteopetrosisClinical Genetics, 1987
- Lethal osteopetrosis with multiple fractures in uteroAmerican Journal of Medical Genetics, 1986
- A mild autosomal recessive form of osteopetrosisAmerican Journal of Medical Genetics, 1984