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Journal of Child Neurology
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Computed Tomography of the Brain in the Smith-Lemli-Opitz Syndrome

Robert W. Marion, MD

Divisions of Genetics and Neurology, the Department of Pediatrics, Albert Einstein College of Medicine, Bronx, NY, Department of Radiology, Albert Einstein College of Medicine, Bronx, NY

Luis A. Alvarez, MD

Divisions of Genetics and Neurology, the Department of Pediatrics, Albert Einstein College of Medicine, Bronx, NY, Department of Radiology, Albert Einstein College of Medicine, Bronx, NY

Zvi S. Marans, MD

Divisions of Genetics and Neurology, the Department of Pediatrics, Albert Einstein College of Medicine, Bronx, NY, Department of Radiology, Albert Einstein College of Medicine, Bronx, NY

George Lantos, MD

Divisions of Genetics and Neurology, the Department of Pediatrics, Albert Einstein College of Medicine, Bronx, NY, Department of Radiology, Albert Einstein College of Medicine, Bronx, NY

David Chitayat, MD

Divisions of Genetics and Neurology, the Department of Pediatrics, Albert Einstein College of Medicine, Bronx, NY, Department of Radiology, Albert Einstein College of Medicine, Bronx, NY

Computed tomographic (CT) scans of the brain in a child with Smith-Lemli-Opitz syndrome revealed enlargement of the ventricular system, hypoplasia of the cerebellum, and abnormal thickening of the gray matter, consistent with pachygyria. These findings have been previously noted in autopsies performed on patients with this disorder. We conclude that CT scanning is a valuable tool in the evaluation of children suspected of having the Smith-Lemli-Opitz syndrome. (J Child Neurol 1987;2:198-200).

Journal of Child Neurology, Vol. 2, No. 3, 198-200 (1987)
DOI: 10.1177/088307388700200305
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R. I Kelley and R. C M Hennekam
The Smith-Lemli-Opitz syndrome
J. Med. Genet., May 1, 2000; 37(5): 321 - 335.
[Abstract] [Full Text]