Raine syndrome: An overview

Abstract Raine syndrome (RS) is a bone dysplasia characterised by generalised osteosclerosis with periosteal bone formation, characteristic face, and brain abnormalities [MIM # 259775]. Its prevalence is estimated to be 

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Bibliographic Details
Published in:European journal of medical genetics 2014-09, Vol.57 (9), p.536-542
Main Authors: Faundes, Víctor, Castillo-Taucher, Silvia, Gonzalez-Hormazabal, Patricio, Chandler, Kate, Crosby, Andrew, Chioza, Barry
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - diagnosis
Abnormalities, Multiple - epidemiology
Abnormalities, Multiple - etiology
Abnormalities, Multiple - therapy
Cleft Palate - diagnosis
Cleft Palate - epidemiology
Cleft Palate - etiology
Cleft Palate - therapy
Diagnosis, Differential
Exophthalmos - diagnosis
Exophthalmos - epidemiology
Exophthalmos - etiology
Exophthalmos - therapy
FAM20C
Humans
Medical Education
Microcephaly - diagnosis
Microcephaly - epidemiology
Microcephaly - etiology
Microcephaly - therapy
Osteosclerosis
Osteosclerosis - diagnosis
Osteosclerosis - epidemiology
Osteosclerosis - etiology
Osteosclerosis - therapy
Prenatal Diagnosis
Prognosis
Respiratory distress
Skeletal dysplasia
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Description
Summary:Abstract Raine syndrome (RS) is a bone dysplasia characterised by generalised osteosclerosis with periosteal bone formation, characteristic face, and brain abnormalities [MIM # 259775]. Its prevalence is estimated to be 
ISSN:1769-7212
1878-0849
DOI:10.1016/j.ejmg.2014.07.001