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Prenatal diagnosis and a case report of isovaleric acidaemia

✍ Scribed by M. E. Blaskovics; W. G. Ng; G. N. Donnell

Book ID
105314967
Publisher
Springer
Year
1978
Tongue
English
Weight
221 KB
Volume
1
Category
Article
ISSN
0141-8955

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## Abstract We describe the abnormal sonographic findings in the brain of a 26‐week fetus, which increased the suspicion of isolated lissencephaly. Follow‐up ultrasound examination and MRI depicted diffuse cortical agyria, microcephaly, hypotelorism, and proptosis. Cordocentesis showed a normal 46,