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

American Journal of Medical Genetics, Part A

Volumn 143, Issue 24, 2007, Pages 3280-3285

  Chitayat, David ^a,e   Shannon, Patrick ^b   Keating, Sarah ^b   Toi, Ants ^a   Blaser, Susan ^c   Friedberg, Tami ^a   Superti Furga, Andrea ^d   Chong, Karen ^a   Unger, Sheila ^d  

^a UNIVERSITY OF TORONTO   (Canada)

^b MOUNT SINAI HOSPITAL   (Canada)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d UNIVERSITY OF FREIBURG   (Germany)

^e ONTARIO POWER GENERATION   (Canada)

Author keywords

Cloverleaf skull; Desmosterolosis; Hypertrophic gums; Intracerebral calcifications; Nasal hypoplasia; Osteosclerosis; Proptosis; Raine syndrome

Indexed keywords

ADULT; ANAMNESIS; AUTOPSY; BONE DYSPLASIA; BRAIN CALCIFICATION; BRAIN MALFORMATION; CASE REPORT; CLINICAL EXAMINATION; CONFERENCE PAPER; DISEASE ASSOCIATION; ECHOGRAPHY; FACE DYSMORPHIA; FEMALE; FOLLOW UP; HISTOPATHOLOGY; HUMAN; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; OSTEOSCLEROSIS; PHYSICAL EXAMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RAINE SYNDROME;

AUTOPSY; BONE AND BONES; BONE DISEASES, DEVELOPMENTAL; BRAIN; FACIAL BONES; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; NOSE; OSTEOSCLEROSIS; PRENATAL DIAGNOSIS; STILLBIRTH; SYNDROME;

EID: 37249062144     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32022     Document Type: Conference Paper

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