Loading…
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
Saved in:
| Published in: | European journal of medical genetics 2014-09, Vol.57 (9), p.536-542 |
|---|---|
| Main Authors: | , , , , , |
| Format: | Article |
| Language: | English |
| Subjects: | |
| Citations: | Items that this one cites Items that cite this one |
| Online Access: | Get full text |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| cited_by | cdi_FETCH-LOGICAL-c481t-d67c17dac2acd3eae513b0c08c0539ec7f46a21321c79bcb495e6868822bfc6f3 |
|---|---|
| cites | cdi_FETCH-LOGICAL-c481t-d67c17dac2acd3eae513b0c08c0539ec7f46a21321c79bcb495e6868822bfc6f3 |
| container_end_page | 542 |
| container_issue | 9 |
| container_start_page | 536 |
| container_title | European journal of medical genetics |
| container_volume | 57 |
| creator | Faundes, Víctor Castillo-Taucher, Silvia Gonzalez-Hormazabal, Patricio Chandler, Kate Crosby, Andrew Chioza, Barry |
| description | 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 |
| doi_str_mv | 10.1016/j.ejmg.2014.07.001 |
| format | article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_1612287742</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><els_id>1_s2_0_S1769721214001487</els_id><sourcerecordid>1612287742</sourcerecordid><originalsourceid>FETCH-LOGICAL-c481t-d67c17dac2acd3eae513b0c08c0539ec7f46a21321c79bcb495e6868822bfc6f3</originalsourceid><addsrcrecordid>eNp9kUtLxDAUhYMoOo7-AQWZpZvW3LTTpCLCIL5AEHysQ3p7K6l9jMmMMv_elBlduHB17-KcA-c7jB0Bj4FDdlbHVLdvseCQxlzGnMMWG4GSKuIqzbfDL7M8kgLEHtv3vuY8USDyXbYnphzyRIoRO34ytqOJX3Wl61s6n8y6Sf9J7tPS1wHbqUzj6XBzx-z15vrl6i56eLy9v5o9RJgqWERlJhFkaVAYLBMyNIWk4MgV8mmSE8oqzYyARADKvMAizaeUqUwpIYoKsyoZs9N17tz1H0vyC91aj9Q0pqN-6TVkIISSMhVBKtZSdL33jio9d7Y1bqWB6wGKrvUARQ9QNJc6QAmmk03-smip_LX8UAiCi7WAQsvQ3GmPljqk0jrChS57-3_-5R87NrazaJp3WpGv-6XrAj8N2gvN9fMwy7AKpMGdKpl8AyN9hcA</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1612287742</pqid></control><display><type>article</type><title>Raine syndrome: An overview</title><source>ScienceDirect Journals</source><creator>Faundes, Víctor ; Castillo-Taucher, Silvia ; Gonzalez-Hormazabal, Patricio ; Chandler, Kate ; Crosby, Andrew ; Chioza, Barry</creator><creatorcontrib>Faundes, Víctor ; Castillo-Taucher, Silvia ; Gonzalez-Hormazabal, Patricio ; Chandler, Kate ; Crosby, Andrew ; Chioza, Barry</creatorcontrib><description>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 < 1/1,000,000. Although it was originally thought always to be lethal, there have now been six reports of patients surviving into childhood and this phenotype is still being defined. The skeletal dysplasia predominantly affects craniofacial development explaining the severe proptosis, underdeveloped midface, depressed nasal bridge and short nose. The main radiological manifestation is a diffuse, marked osteosclerosis of the base of skull and long bones. Raine syndrome is caused by biallelic mutations in FAM20C , located on chromosome 7p22.3. This gene encodes a Golgi casein kinase, which phosphorylates serine residues of extracellular proteins involved in biomineralisation. Facial appearance and radiological findings allow the clinical diagnosis, and molecular testing of FAM20C can confirm this. Desmosterolosis and congenital cytomegalovirus infection may resemble Raine syndrome. If Raine syndrome is suspected prenatally the newborn should be admitted at a neonatal intensive care unit as significant respiratory distress is often present immediately after birth. We present here a review of the pertinent literature in clinical manifestations, molecular background, diagnosis and management.</description><identifier>ISSN: 1769-7212</identifier><identifier>EISSN: 1878-0849</identifier><identifier>DOI: 10.1016/j.ejmg.2014.07.001</identifier><identifier>PMID: 25019372</identifier><language>eng</language><publisher>Netherlands: Elsevier Masson SAS</publisher><subject>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</subject><ispartof>European journal of medical genetics, 2014-09, Vol.57 (9), p.536-542</ispartof><rights>Elsevier Masson SAS</rights><rights>2014 Elsevier Masson SAS</rights><rights>Copyright © 2014 Elsevier Masson SAS. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c481t-d67c17dac2acd3eae513b0c08c0539ec7f46a21321c79bcb495e6868822bfc6f3</citedby><cites>FETCH-LOGICAL-c481t-d67c17dac2acd3eae513b0c08c0539ec7f46a21321c79bcb495e6868822bfc6f3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/25019372$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Faundes, Víctor</creatorcontrib><creatorcontrib>Castillo-Taucher, Silvia</creatorcontrib><creatorcontrib>Gonzalez-Hormazabal, Patricio</creatorcontrib><creatorcontrib>Chandler, Kate</creatorcontrib><creatorcontrib>Crosby, Andrew</creatorcontrib><creatorcontrib>Chioza, Barry</creatorcontrib><title>Raine syndrome: An overview</title><title>European journal of medical genetics</title><addtitle>Eur J Med Genet</addtitle><description>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 < 1/1,000,000. Although it was originally thought always to be lethal, there have now been six reports of patients surviving into childhood and this phenotype is still being defined. The skeletal dysplasia predominantly affects craniofacial development explaining the severe proptosis, underdeveloped midface, depressed nasal bridge and short nose. The main radiological manifestation is a diffuse, marked osteosclerosis of the base of skull and long bones. Raine syndrome is caused by biallelic mutations in FAM20C , located on chromosome 7p22.3. This gene encodes a Golgi casein kinase, which phosphorylates serine residues of extracellular proteins involved in biomineralisation. Facial appearance and radiological findings allow the clinical diagnosis, and molecular testing of FAM20C can confirm this. Desmosterolosis and congenital cytomegalovirus infection may resemble Raine syndrome. If Raine syndrome is suspected prenatally the newborn should be admitted at a neonatal intensive care unit as significant respiratory distress is often present immediately after birth. We present here a review of the pertinent literature in clinical manifestations, molecular background, diagnosis and management.</description><subject>Abnormalities, Multiple - diagnosis</subject><subject>Abnormalities, Multiple - epidemiology</subject><subject>Abnormalities, Multiple - etiology</subject><subject>Abnormalities, Multiple - therapy</subject><subject>Cleft Palate - diagnosis</subject><subject>Cleft Palate - epidemiology</subject><subject>Cleft Palate - etiology</subject><subject>Cleft Palate - therapy</subject><subject>Diagnosis, Differential</subject><subject>Exophthalmos - diagnosis</subject><subject>Exophthalmos - epidemiology</subject><subject>Exophthalmos - etiology</subject><subject>Exophthalmos - therapy</subject><subject>FAM20C</subject><subject>Humans</subject><subject>Medical Education</subject><subject>Microcephaly - diagnosis</subject><subject>Microcephaly - epidemiology</subject><subject>Microcephaly - etiology</subject><subject>Microcephaly - therapy</subject><subject>Osteosclerosis</subject><subject>Osteosclerosis - diagnosis</subject><subject>Osteosclerosis - epidemiology</subject><subject>Osteosclerosis - etiology</subject><subject>Osteosclerosis - therapy</subject><subject>Prenatal Diagnosis</subject><subject>Prognosis</subject><subject>Respiratory distress</subject><subject>Skeletal dysplasia</subject><issn>1769-7212</issn><issn>1878-0849</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><recordid>eNp9kUtLxDAUhYMoOo7-AQWZpZvW3LTTpCLCIL5AEHysQ3p7K6l9jMmMMv_elBlduHB17-KcA-c7jB0Bj4FDdlbHVLdvseCQxlzGnMMWG4GSKuIqzbfDL7M8kgLEHtv3vuY8USDyXbYnphzyRIoRO34ytqOJX3Wl61s6n8y6Sf9J7tPS1wHbqUzj6XBzx-z15vrl6i56eLy9v5o9RJgqWERlJhFkaVAYLBMyNIWk4MgV8mmSE8oqzYyARADKvMAizaeUqUwpIYoKsyoZs9N17tz1H0vyC91aj9Q0pqN-6TVkIISSMhVBKtZSdL33jio9d7Y1bqWB6wGKrvUARQ9QNJc6QAmmk03-smip_LX8UAiCi7WAQsvQ3GmPljqk0jrChS57-3_-5R87NrazaJp3WpGv-6XrAj8N2gvN9fMwy7AKpMGdKpl8AyN9hcA</recordid><startdate>20140901</startdate><enddate>20140901</enddate><creator>Faundes, Víctor</creator><creator>Castillo-Taucher, Silvia</creator><creator>Gonzalez-Hormazabal, Patricio</creator><creator>Chandler, Kate</creator><creator>Crosby, Andrew</creator><creator>Chioza, Barry</creator><general>Elsevier Masson SAS</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20140901</creationdate><title>Raine syndrome: An overview</title><author>Faundes, Víctor ; Castillo-Taucher, Silvia ; Gonzalez-Hormazabal, Patricio ; Chandler, Kate ; Crosby, Andrew ; Chioza, Barry</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c481t-d67c17dac2acd3eae513b0c08c0539ec7f46a21321c79bcb495e6868822bfc6f3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>Abnormalities, Multiple - diagnosis</topic><topic>Abnormalities, Multiple - epidemiology</topic><topic>Abnormalities, Multiple - etiology</topic><topic>Abnormalities, Multiple - therapy</topic><topic>Cleft Palate - diagnosis</topic><topic>Cleft Palate - epidemiology</topic><topic>Cleft Palate - etiology</topic><topic>Cleft Palate - therapy</topic><topic>Diagnosis, Differential</topic><topic>Exophthalmos - diagnosis</topic><topic>Exophthalmos - epidemiology</topic><topic>Exophthalmos - etiology</topic><topic>Exophthalmos - therapy</topic><topic>FAM20C</topic><topic>Humans</topic><topic>Medical Education</topic><topic>Microcephaly - diagnosis</topic><topic>Microcephaly - epidemiology</topic><topic>Microcephaly - etiology</topic><topic>Microcephaly - therapy</topic><topic>Osteosclerosis</topic><topic>Osteosclerosis - diagnosis</topic><topic>Osteosclerosis - epidemiology</topic><topic>Osteosclerosis - etiology</topic><topic>Osteosclerosis - therapy</topic><topic>Prenatal Diagnosis</topic><topic>Prognosis</topic><topic>Respiratory distress</topic><topic>Skeletal dysplasia</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Faundes, Víctor</creatorcontrib><creatorcontrib>Castillo-Taucher, Silvia</creatorcontrib><creatorcontrib>Gonzalez-Hormazabal, Patricio</creatorcontrib><creatorcontrib>Chandler, Kate</creatorcontrib><creatorcontrib>Crosby, Andrew</creatorcontrib><creatorcontrib>Chioza, Barry</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>European journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Faundes, Víctor</au><au>Castillo-Taucher, Silvia</au><au>Gonzalez-Hormazabal, Patricio</au><au>Chandler, Kate</au><au>Crosby, Andrew</au><au>Chioza, Barry</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Raine syndrome: An overview</atitle><jtitle>European journal of medical genetics</jtitle><addtitle>Eur J Med Genet</addtitle><date>2014-09-01</date><risdate>2014</risdate><volume>57</volume><issue>9</issue><spage>536</spage><epage>542</epage><pages>536-542</pages><issn>1769-7212</issn><eissn>1878-0849</eissn><abstract>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 < 1/1,000,000. Although it was originally thought always to be lethal, there have now been six reports of patients surviving into childhood and this phenotype is still being defined. The skeletal dysplasia predominantly affects craniofacial development explaining the severe proptosis, underdeveloped midface, depressed nasal bridge and short nose. The main radiological manifestation is a diffuse, marked osteosclerosis of the base of skull and long bones. Raine syndrome is caused by biallelic mutations in FAM20C , located on chromosome 7p22.3. This gene encodes a Golgi casein kinase, which phosphorylates serine residues of extracellular proteins involved in biomineralisation. Facial appearance and radiological findings allow the clinical diagnosis, and molecular testing of FAM20C can confirm this. Desmosterolosis and congenital cytomegalovirus infection may resemble Raine syndrome. If Raine syndrome is suspected prenatally the newborn should be admitted at a neonatal intensive care unit as significant respiratory distress is often present immediately after birth. We present here a review of the pertinent literature in clinical manifestations, molecular background, diagnosis and management.</abstract><cop>Netherlands</cop><pub>Elsevier Masson SAS</pub><pmid>25019372</pmid><doi>10.1016/j.ejmg.2014.07.001</doi><tpages>7</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1769-7212 |
| ispartof | European journal of medical genetics, 2014-09, Vol.57 (9), p.536-542 |
| issn | 1769-7212 1878-0849 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_1612287742 |
| source | ScienceDirect Journals |
| 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 |
| title | Raine syndrome: An overview |
| url | http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-26T20%3A28%3A27IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Raine%20syndrome:%20An%20overview&rft.jtitle=European%20journal%20of%20medical%20genetics&rft.au=Faundes,%20V%C3%ADctor&rft.date=2014-09-01&rft.volume=57&rft.issue=9&rft.spage=536&rft.epage=542&rft.pages=536-542&rft.issn=1769-7212&rft.eissn=1878-0849&rft_id=info:doi/10.1016/j.ejmg.2014.07.001&rft_dat=%3Cproquest_cross%3E1612287742%3C/proquest_cross%3E%3Cgrp_id%3Ecdi_FETCH-LOGICAL-c481t-d67c17dac2acd3eae513b0c08c0539ec7f46a21321c79bcb495e6868822bfc6f3%3C/grp_id%3E%3Coa%3E%3C/oa%3E%3Curl%3E%3C/url%3E&rft_id=info:oai/&rft_pqid=1612287742&rft_id=info:pmid/25019372&rfr_iscdi=true |