How to cite this article: Chitayat D, Shannon P, Keating S, Toi A, Blaser S, Friedberg T, Superti-Furga A, Chong K, Unger S. 2007. Raine syndrome: A rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings. Am J Med Genet Part A 143A:3280–3285.
Raine syndrome: A rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings†
Article first published online: 13 NOV 2007
Copyright © 2007 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Special Issue: M. Michael Cohen Jr. Festschrift
Volume 143A, Issue 24, pages 3280–3285, 15 December 2007
How to Cite
Chitayat, D., Shannon, P., Keating, S., Toi, A., Blaser, S., Friedberg, T., Superti-Furga, A., Chong, K. and Unger, S. (2007), Raine syndrome: A rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings. Am. J. Med. Genet., 143A: 3280–3285. doi: 10.1002/ajmg.a.32022
- Issue published online: 28 NOV 2007
- Article first published online: 13 NOV 2007
- Manuscript Accepted: 11 JUL 2007
- Manuscript Received: 28 APR 2007
- Raine syndrome;
- cloverleaf skull;
- nasal hypoplasia;
- hypertrophic gums;
- intracerebral calcifications;
Raine syndrome is an autosomal recessive condition with generalized osteosclerosis, characteristic facial dysmorphism and brain abnormalities including intracerebral calcifications. We report on a case with Raine syndrome born to nonconsanguineous couple and report the prenatal sonogram/MRI, the fetopathology, and neuropathology findings. © 2007 Wiley-Liss, Inc.