Prenatal diagnosis of autosomal recessive osteopetrosis, infantile type, by X-ray evaluation.
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.
Oğur
G
G
Gata Medical Faculty, Department of Medical Genetics, Etlik, Ankara, Turkey.
Oğur
E
E
Celasun
B
B
Baser
I
I
Imïrzalioğlu
N
N
Oztürk
T
T
Alemdaroğlu
A
A
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