title: Prenatal diagnosis of autosomal recessive osteopetrosis, infantile type, by X-ray evaluation.
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.
authors.affiliation: Gata Medical Faculty, Department of Medical Genetics, Etlik, Ankara, Turkey.
authors.forename: G
authors.initials: G
authors.lastname: Oğur
authors.forename: E
authors.initials: E
authors.lastname: Oğur
authors.forename: B
authors.initials: B
authors.lastname: Celasun
authors.forename: I
authors.initials: I
authors.lastname: Baser
authors.forename: N
authors.initials: N
authors.lastname: Imïrzalioğlu
authors.forename: T
authors.initials: T
authors.lastname: Oztürk
authors.forename: A
authors.initials: A
authors.lastname: Alemdaroğlu
mesh_terms: D000028:Abortion, Induced; D003241:Consanguinity; D005260:Female; D005269:Femur / Q000473:pathology; D005315:Fetal Diseases / Q000000981:diagnostic imaging; D006801:Humans; D008297:Male; D010022:Osteopetrosis / Q000000981:diagnostic imaging* / Q000473:pathology; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011859:Radiography