title: Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings.
abstract: 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.
authors.affiliation: The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada. dchitayat@rogers.com
authors.forename: David
authors.initials: D
authors.lastname: Chitayat
authors.forename: Patrick
authors.initials: P
authors.lastname: Shannon
authors.forename: Sarah
authors.initials: S
authors.lastname: Keating
authors.forename: Ants
authors.initials: A
authors.lastname: Toi
authors.forename: Susan
authors.initials: S
authors.lastname: Blaser
authors.forename: Tami
authors.initials: T
authors.lastname: Friedberg
authors.forename: Andrea
authors.initials: A
authors.lastname: Superti-Furga
authors.forename: Karen
authors.initials: K
authors.lastname: Chong
authors.forename: Sheila
authors.initials: S
authors.lastname: Unger
mesh_terms: D001344:Autopsy; D001848:Bone Diseases, Developmental; D001842:Bone and Bones / Q000473:pathology*; D001921:Brain / Q000473:pathology; D005147:Facial Bones / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009666:Nose / Q000473:pathology; D010026:Osteosclerosis / Q000175:diagnosis*; D011296:Prenatal Diagnosis; D050497:Stillbirth; D013577:Syndrome