Oro-palatal dysplasia Bettex–Graf – Clinical findings, genetic background, treatment
Abstract Oro-palatal dysplasia Bettex–Graf is an extremely rare syndrome consisting of microstomia, U-shaped cleft palate and micrognathia. Only two affected families have been reported before. We present the clinical findings, treatment and 13 year follow-up in a patient with this rare syndrome. Th...
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| Veröffentlicht in: | Journal of cranio-maxillo-facial surgery 2013-01, Vol.41 (1), p.e29-e32 |
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| container_title | Journal of cranio-maxillo-facial surgery |
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| creator | Janiszewska-Olszowska, Joanna Gawrych, Elżbieta Dydyk, Aldona Studniak, Ewa Biaduń-Popławska, Anna Zajączek, Stanisław |
| description | Abstract Oro-palatal dysplasia Bettex–Graf is an extremely rare syndrome consisting of microstomia, U-shaped cleft palate and micrognathia. Only two affected families have been reported before. We present the clinical findings, treatment and 13 year follow-up in a patient with this rare syndrome. The possible linkage to the fragile site 16q22 has been supported, contrary to earlier statements of its non-pathogenic character. The analysis of clinical symptoms and reference to the literature suggests, that ankyloglossia is a part of oropalatal dysplasia, whereas hypodontia is associated with the cleft itself. The authors postulate that a 20 mm intercommissural distance allows acceptable function without the need for surgical correction. |
| doi_str_mv | 10.1016/j.jcms.2012.06.002 |
| format | Article |
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Only two affected families have been reported before. We present the clinical findings, treatment and 13 year follow-up in a patient with this rare syndrome. The possible linkage to the fragile site 16q22 has been supported, contrary to earlier statements of its non-pathogenic character. The analysis of clinical symptoms and reference to the literature suggests, that ankyloglossia is a part of oropalatal dysplasia, whereas hypodontia is associated with the cleft itself. 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All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c411t-85d9c3dd554e78786f6dcab89bce6ac79300e9bf0706be37739fe49ac178ad7d3</citedby><cites>FETCH-LOGICAL-c411t-85d9c3dd554e78786f6dcab89bce6ac79300e9bf0706be37739fe49ac178ad7d3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.jcms.2012.06.002$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,777,781,3537,27905,27906,45976</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22831831$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Janiszewska-Olszowska, Joanna</creatorcontrib><creatorcontrib>Gawrych, Elżbieta</creatorcontrib><creatorcontrib>Dydyk, Aldona</creatorcontrib><creatorcontrib>Studniak, Ewa</creatorcontrib><creatorcontrib>Biaduń-Popławska, Anna</creatorcontrib><creatorcontrib>Zajączek, Stanisław</creatorcontrib><title>Oro-palatal dysplasia Bettex–Graf – Clinical findings, genetic background, treatment</title><title>Journal of cranio-maxillo-facial surgery</title><addtitle>J Craniomaxillofac Surg</addtitle><description>Abstract Oro-palatal dysplasia Bettex–Graf is an extremely rare syndrome consisting of microstomia, U-shaped cleft palate and micrognathia. Only two affected families have been reported before. We present the clinical findings, treatment and 13 year follow-up in a patient with this rare syndrome. The possible linkage to the fragile site 16q22 has been supported, contrary to earlier statements of its non-pathogenic character. The analysis of clinical symptoms and reference to the literature suggests, that ankyloglossia is a part of oropalatal dysplasia, whereas hypodontia is associated with the cleft itself. The authors postulate that a 20 mm intercommissural distance allows acceptable function without the need for surgical correction.</description><subject>Ankyloglossia</subject><subject>Anodontia - pathology</subject><subject>Cephalometry - methods</subject><subject>Chromosome Deletion</subject><subject>Chromosome Disorders - genetics</subject><subject>Chromosomes, Human, Pair 16 - genetics</subject><subject>Cleft palate</subject><subject>Cleft Palate - genetics</subject><subject>Cleft Palate - pathology</subject><subject>Cleft Palate - surgery</subject><subject>Craniofacial Abnormalities - genetics</subject><subject>Dentistry</subject><subject>Developmental Disabilities - genetics</subject><subject>Follow-Up Studies</subject><subject>Fragile 16q22</subject><subject>Genetic Linkage - genetics</subject><subject>Heart Defects, Congenital - genetics</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Male</subject><subject>Malocclusion - therapy</subject><subject>Mental Disorders - genetics</subject><subject>Micrognathism - genetics</subject><subject>Micrognathism - pathology</subject><subject>Micrognathism - surgery</subject><subject>Microstomia</subject><subject>Microstomia - genetics</subject><subject>Microstomia - pathology</subject><subject>Microstomia - surgery</subject><subject>Mouth Mucosa - transplantation</subject><subject>Nasal Mucosa - surgery</subject><subject>Palatal Muscles - surgery</subject><subject>Periosteum - transplantation</subject><subject>Surgery</subject><subject>Surgical Flaps - transplantation</subject><subject>Tongue - abnormalities</subject><issn>1010-5182</issn><issn>1878-4119</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kc-KFDEQxoMo7h99AQ_SRw_bbSWZ7qRBBB10FRb2oIK3kE6qh_R2p8ckLc7Nd_ANfZJNM6MHD0JB1eH7Pqp-RcgzChUF2rwcqsFMsWJAWQVNBcAekHMqhSw3lLYP8wwUyppKdkYuYhwAoAHZPiZnjElOc52Tr7dhLvd61EmPhT3E_aij08VbTAl__P756zrovsi92I7OO5NFvfPW-V28KnboMTlTdNrc7cK8eHtVpIA6TejTE_Ko12PEp6d-Sb68f_d5-6G8ub3-uH1zU5q8ZCplbVvDra3rDYq8etM31uhOtp3BRhvRcgBsux4ENB1yIXjb46bVhgqprbD8krw45u7D_G3BmNTkosFx1B7nJSrKBGe15AyylB2lJswxBuzVPrhJh4OioFaialArUbUSVdCoTDSbnp_yl25C-9fyB2EWvDoKMF_53WFQ0Tj0Bq0LaJKys_t__ut_7OZE-g4PGId5CT7zU1TF7FGf1p-uL6UMgG4o4_fas55Y</recordid><startdate>20130101</startdate><enddate>20130101</enddate><creator>Janiszewska-Olszowska, Joanna</creator><creator>Gawrych, Elżbieta</creator><creator>Dydyk, Aldona</creator><creator>Studniak, Ewa</creator><creator>Biaduń-Popławska, Anna</creator><creator>Zajączek, Stanisław</creator><general>Elsevier Ltd</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>20130101</creationdate><title>Oro-palatal dysplasia Bettex–Graf – Clinical findings, genetic background, treatment</title><author>Janiszewska-Olszowska, Joanna ; 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Only two affected families have been reported before. We present the clinical findings, treatment and 13 year follow-up in a patient with this rare syndrome. The possible linkage to the fragile site 16q22 has been supported, contrary to earlier statements of its non-pathogenic character. The analysis of clinical symptoms and reference to the literature suggests, that ankyloglossia is a part of oropalatal dysplasia, whereas hypodontia is associated with the cleft itself. The authors postulate that a 20 mm intercommissural distance allows acceptable function without the need for surgical correction.</abstract><cop>Scotland</cop><pub>Elsevier Ltd</pub><pmid>22831831</pmid><doi>10.1016/j.jcms.2012.06.002</doi></addata></record> |
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| subjects | Ankyloglossia Anodontia - pathology Cephalometry - methods Chromosome Deletion Chromosome Disorders - genetics Chromosomes, Human, Pair 16 - genetics Cleft palate Cleft Palate - genetics Cleft Palate - pathology Cleft Palate - surgery Craniofacial Abnormalities - genetics Dentistry Developmental Disabilities - genetics Follow-Up Studies Fragile 16q22 Genetic Linkage - genetics Heart Defects, Congenital - genetics Humans Infant, Newborn Male Malocclusion - therapy Mental Disorders - genetics Micrognathism - genetics Micrognathism - pathology Micrognathism - surgery Microstomia Microstomia - genetics Microstomia - pathology Microstomia - surgery Mouth Mucosa - transplantation Nasal Mucosa - surgery Palatal Muscles - surgery Periosteum - transplantation Surgery Surgical Flaps - transplantation Tongue - abnormalities |
| title | Oro-palatal dysplasia Bettex–Graf – Clinical findings, genetic background, treatment |
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