Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings.
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.
Chitayat
David
D
The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada. dchitayat@rogers.com
Shannon
Patrick
P
Keating
Sarah
S
Toi
Ants
A
Blaser
Susan
S
Friedberg
Tami
T
Superti-Furga
Andrea
A
Chong
Karen
K
Unger
Sheila
S
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