Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings.

Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings. Research Abstract Details 

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Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings. Abstract Text:

David Chitayat,Patrick Shannon,Sarah Keating,Ants Toi,Susan Blaser,Tami Friedberg,Andrea Superti-Furga,Karen Chong,Sheila Unger,David Chitayat,Patrick Shannon,Sarah Keating,Ants Toi,Susan Blaser,Tami Friedberg,Andrea Superti-Furga,Karen Chong,Sheila Unger,David Chitayat,Patrick Shannon,Sarah Keating,Ants Toi,Susan Blaser,Tami Friedberg,Andrea Superti-Furga,Karen Chong,Sheila Unger,

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.

Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings. Publishing Authors By Initials

D Chitayat,P Shannon,S Keating,A Toi,S Blaser,T Friedberg,A Superti-Furga,K Chong,S Unger,D Chitayat,P Shannon,S Keating,A Toi,S Blaser,T Friedberg,A Superti-Furga,K Chong,S Unger,D Chitayat,P Shannon,S Keating,A Toi,S Blaser,T Friedberg,A Superti-Furga,K Chong,S Unger,

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Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: American journal of medical genetics. Part A

VOLUME: 143

Page Numbers: 3280-5

Journal Abbreviation: Am. J. Med. Genet. A

ISSN: 1552-4833

DAY: 15

MONTH: Dec

YEAR: 2007

Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings. Information

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LANGUAGE: eng

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AFFILIATION: The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada. dchitayat@rogers.com

Country: United States

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MEDLINETA: Am J Med Genet A

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