Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome (RTS) is a multiple congenital anomaly syndrome characterized by mental retardation, broad thumbs and toes, short stature, growth retardation and distinctive facial features. We report an Egyptian patient, 5months old with mild RTS. Our patient had mild mental retardation,...
Gespeichert in:
Veröffentlicht in: | The Egyptian journal of medical human genetics 2012-06, Vol.13 (2), p.233-237 |
---|---|
Hauptverfasser: | , , |
Format: | Artikel |
Sprache: | eng |
Schlagworte: | |
Online-Zugang: | Volltext |
Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
container_end_page | 237 |
---|---|
container_issue | 2 |
container_start_page | 233 |
container_title | The Egyptian journal of medical human genetics |
container_volume | 13 |
creator | Shawky, Rabah M. Elsayed, Nermine S. Seifeldin, Neveen S. |
description | Rubinstein-Taybi Syndrome (RTS) is a multiple congenital anomaly syndrome characterized by mental retardation, broad thumbs and toes, short stature, growth retardation and distinctive facial features. We report an Egyptian patient, 5months old with mild RTS. Our patient had mild mental retardation, growth retardation, microcephaly, hypertelorism, prominent peaked nose, high arched palate, mild micrognathia, low set posteriorly rotated ears, hirsutism, broad halluces, short 5th toe and dorsal kyphosis. However the antemongoloid slant and board thumbs and fingers were slightly evident. Also our patient had dysplastic toe nails and bilateral congenial glaucoma, with megalocornea and corneal haziness. Congenital glaucoma is considered a rare complication in RTS and dysplastic nails were not previously reported in RTS. High resolution karyotype was normal. Previous studies have documented considerable change in facial phenotype and skeletal changes with age. We consider our patient as having mild form of RTS and the features will be more evident as she grows older. |
doi_str_mv | 10.1016/j.ejmhg.2012.03.009 |
format | Article |
fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_journals_1033190514</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><els_id>S1110863012000316</els_id><sourcerecordid>2734564331</sourcerecordid><originalsourceid>FETCH-LOGICAL-c3139-37b1acec1b1b00f3954e3bdb40810a733bd4882c4524eb78b9101fadee3ed16c3</originalsourceid><addsrcrecordid>eNp9kE9P4zAQxS0E0hZ2P8EKKRLXJszEbpsgcUAV_yRWSLvs2bKdSXFwnGKnSP32uBRx5DSjN-_NaH6M_UYoEHB-3hXU9c-rogQsC-AFQH3AJiXUkJdC4CGbICLk1ZzDD3YcYwcwn_GFmDB3o4xVLmu2sR_C-tnGfprFF3I0JlX5oVfOUpxmZvAr8nanrtzGJH26C62diqM1mVfWxYvsj3VN9nejrY8jWZ8_qa222b-tb8LQ00921CoX6ddnPWH_b66flnf5w-Pt_fLqITcceZ3zhUZlyKBGDdDyeiaI60YLqBDUgqdeVFVpxKwUpBeVrhOEVjVEnBqcG37CzvZ712F43VAcZTdsgk8nJQLnWMMMRXLxvcuEIcZArVwH26uwTSa5wyo7-YFV7rBK4DJhTanTfYqSlVr1FeJY1jWm-eXnPD34ZinIaCx5Q40NZEbZDPbb_e9iDIy4</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1033190514</pqid></control><display><type>article</type><title>Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome</title><source>DOAJ Directory of Open Access Journals</source><source>Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals</source><source>African Journals Online (Open Access)</source><source>ScienceDirect Journals (5 years ago - present)</source><creator>Shawky, Rabah M. ; Elsayed, Nermine S. ; Seifeldin, Neveen S.</creator><creatorcontrib>Shawky, Rabah M. ; Elsayed, Nermine S. ; Seifeldin, Neveen S.</creatorcontrib><description>Rubinstein-Taybi Syndrome (RTS) is a multiple congenital anomaly syndrome characterized by mental retardation, broad thumbs and toes, short stature, growth retardation and distinctive facial features. We report an Egyptian patient, 5months old with mild RTS. Our patient had mild mental retardation, growth retardation, microcephaly, hypertelorism, prominent peaked nose, high arched palate, mild micrognathia, low set posteriorly rotated ears, hirsutism, broad halluces, short 5th toe and dorsal kyphosis. However the antemongoloid slant and board thumbs and fingers were slightly evident. Also our patient had dysplastic toe nails and bilateral congenial glaucoma, with megalocornea and corneal haziness. Congenital glaucoma is considered a rare complication in RTS and dysplastic nails were not previously reported in RTS. High resolution karyotype was normal. Previous studies have documented considerable change in facial phenotype and skeletal changes with age. We consider our patient as having mild form of RTS and the features will be more evident as she grows older.</description><identifier>ISSN: 1110-8630</identifier><identifier>EISSN: 2090-2441</identifier><identifier>DOI: 10.1016/j.ejmhg.2012.03.009</identifier><language>eng</language><publisher>Cairo, Egypt: Elsevier B.V</publisher><subject>Broad halluces ; Broad thumbs ; Congenital glaucoma ; Dysplastic nails ; Genetic disorders ; Kyphosis ; Megalocornea ; Patients ; Rubinstein-Taybi Syndrome ; الاضطرابات الوراثية ; المرضى</subject><ispartof>The Egyptian journal of medical human genetics, 2012-06, Vol.13 (2), p.233-237</ispartof><rights>2012</rights><rights>Copyright Egyptian Society of Medical Human Genetics 2012</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3139-37b1acec1b1b00f3954e3bdb40810a733bd4882c4524eb78b9101fadee3ed16c3</citedby><cites>FETCH-LOGICAL-c3139-37b1acec1b1b00f3954e3bdb40810a733bd4882c4524eb78b9101fadee3ed16c3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.ejmhg.2012.03.009$$EHTML$$P50$$Gelsevier$$Hfree_for_read</linktohtml><link.rule.ids>314,780,784,864,3550,27924,27925,45995</link.rule.ids></links><search><creatorcontrib>Shawky, Rabah M.</creatorcontrib><creatorcontrib>Elsayed, Nermine S.</creatorcontrib><creatorcontrib>Seifeldin, Neveen S.</creatorcontrib><title>Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome</title><title>The Egyptian journal of medical human genetics</title><description>Rubinstein-Taybi Syndrome (RTS) is a multiple congenital anomaly syndrome characterized by mental retardation, broad thumbs and toes, short stature, growth retardation and distinctive facial features. We report an Egyptian patient, 5months old with mild RTS. Our patient had mild mental retardation, growth retardation, microcephaly, hypertelorism, prominent peaked nose, high arched palate, mild micrognathia, low set posteriorly rotated ears, hirsutism, broad halluces, short 5th toe and dorsal kyphosis. However the antemongoloid slant and board thumbs and fingers were slightly evident. Also our patient had dysplastic toe nails and bilateral congenial glaucoma, with megalocornea and corneal haziness. Congenital glaucoma is considered a rare complication in RTS and dysplastic nails were not previously reported in RTS. High resolution karyotype was normal. Previous studies have documented considerable change in facial phenotype and skeletal changes with age. We consider our patient as having mild form of RTS and the features will be more evident as she grows older.</description><subject>Broad halluces</subject><subject>Broad thumbs</subject><subject>Congenital glaucoma</subject><subject>Dysplastic nails</subject><subject>Genetic disorders</subject><subject>Kyphosis</subject><subject>Megalocornea</subject><subject>Patients</subject><subject>Rubinstein-Taybi Syndrome</subject><subject>الاضطرابات الوراثية</subject><subject>المرضى</subject><issn>1110-8630</issn><issn>2090-2441</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNp9kE9P4zAQxS0E0hZ2P8EKKRLXJszEbpsgcUAV_yRWSLvs2bKdSXFwnGKnSP32uBRx5DSjN-_NaH6M_UYoEHB-3hXU9c-rogQsC-AFQH3AJiXUkJdC4CGbICLk1ZzDD3YcYwcwn_GFmDB3o4xVLmu2sR_C-tnGfprFF3I0JlX5oVfOUpxmZvAr8nanrtzGJH26C62diqM1mVfWxYvsj3VN9nejrY8jWZ8_qa222b-tb8LQ00921CoX6ddnPWH_b66flnf5w-Pt_fLqITcceZ3zhUZlyKBGDdDyeiaI60YLqBDUgqdeVFVpxKwUpBeVrhOEVjVEnBqcG37CzvZ712F43VAcZTdsgk8nJQLnWMMMRXLxvcuEIcZArVwH26uwTSa5wyo7-YFV7rBK4DJhTanTfYqSlVr1FeJY1jWm-eXnPD34ZinIaCx5Q40NZEbZDPbb_e9iDIy4</recordid><startdate>201206</startdate><enddate>201206</enddate><creator>Shawky, Rabah M.</creator><creator>Elsayed, Nermine S.</creator><creator>Seifeldin, Neveen S.</creator><general>Elsevier B.V</general><general>Egyptian Society of Human Genetics</general><general>Springer Nature B.V</general><scope>6I.</scope><scope>AAFTH</scope><scope>ADJCN</scope><scope>AHFXO</scope><scope>AHHHR</scope><scope>AHQOB</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>CWDGH</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M7P</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope></search><sort><creationdate>201206</creationdate><title>Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome</title><author>Shawky, Rabah M. ; Elsayed, Nermine S. ; Seifeldin, Neveen S.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3139-37b1acec1b1b00f3954e3bdb40810a733bd4882c4524eb78b9101fadee3ed16c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>Broad halluces</topic><topic>Broad thumbs</topic><topic>Congenital glaucoma</topic><topic>Dysplastic nails</topic><topic>Genetic disorders</topic><topic>Kyphosis</topic><topic>Megalocornea</topic><topic>Patients</topic><topic>Rubinstein-Taybi Syndrome</topic><topic>الاضطرابات الوراثية</topic><topic>المرضى</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Shawky, Rabah M.</creatorcontrib><creatorcontrib>Elsayed, Nermine S.</creatorcontrib><creatorcontrib>Seifeldin, Neveen S.</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</collection><collection>الدوريات العلمية والإحصائية - e-Marefa Academic and Statistical Periodicals</collection><collection>معرفة - المحتوى العربي الأكاديمي المتكامل - e-Marefa Academic Complete</collection><collection>دراسات الشرق الأوسط - e-Marefa Middle Eastern Studies</collection><collection>الشؤون الدولية والعربية - e-Marefa International & Arab Affairs</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>Middle East & Africa Database</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Biological Science Database</collection><collection>Publicly Available Content Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><jtitle>The Egyptian journal of medical human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Shawky, Rabah M.</au><au>Elsayed, Nermine S.</au><au>Seifeldin, Neveen S.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome</atitle><jtitle>The Egyptian journal of medical human genetics</jtitle><date>2012-06</date><risdate>2012</risdate><volume>13</volume><issue>2</issue><spage>233</spage><epage>237</epage><pages>233-237</pages><issn>1110-8630</issn><eissn>2090-2441</eissn><abstract>Rubinstein-Taybi Syndrome (RTS) is a multiple congenital anomaly syndrome characterized by mental retardation, broad thumbs and toes, short stature, growth retardation and distinctive facial features. We report an Egyptian patient, 5months old with mild RTS. Our patient had mild mental retardation, growth retardation, microcephaly, hypertelorism, prominent peaked nose, high arched palate, mild micrognathia, low set posteriorly rotated ears, hirsutism, broad halluces, short 5th toe and dorsal kyphosis. However the antemongoloid slant and board thumbs and fingers were slightly evident. Also our patient had dysplastic toe nails and bilateral congenial glaucoma, with megalocornea and corneal haziness. Congenital glaucoma is considered a rare complication in RTS and dysplastic nails were not previously reported in RTS. High resolution karyotype was normal. Previous studies have documented considerable change in facial phenotype and skeletal changes with age. We consider our patient as having mild form of RTS and the features will be more evident as she grows older.</abstract><cop>Cairo, Egypt</cop><pub>Elsevier B.V</pub><doi>10.1016/j.ejmhg.2012.03.009</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
fulltext | fulltext |
identifier | ISSN: 1110-8630 |
ispartof | The Egyptian journal of medical human genetics, 2012-06, Vol.13 (2), p.233-237 |
issn | 1110-8630 2090-2441 |
language | eng |
recordid | cdi_proquest_journals_1033190514 |
source | DOAJ Directory of Open Access Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; African Journals Online (Open Access); ScienceDirect Journals (5 years ago - present) |
subjects | Broad halluces Broad thumbs Congenital glaucoma Dysplastic nails Genetic disorders Kyphosis Megalocornea Patients Rubinstein-Taybi Syndrome الاضطرابات الوراثية المرضى |
title | Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome |
url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-07T00%3A13%3A26IST&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=Facial%20dysmorphism,%20skeletal%20anomalies,%20congenital%20glucoma,%20dysplastic%20nails:%20Mild%20Rubinstein-Taybi%20Syndrome&rft.jtitle=The%20Egyptian%20journal%20of%20medical%20human%20genetics&rft.au=Shawky,%20Rabah%20M.&rft.date=2012-06&rft.volume=13&rft.issue=2&rft.spage=233&rft.epage=237&rft.pages=233-237&rft.issn=1110-8630&rft.eissn=2090-2441&rft_id=info:doi/10.1016/j.ejmhg.2012.03.009&rft_dat=%3Cproquest_cross%3E2734564331%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1033190514&rft_id=info:pmid/&rft_els_id=S1110863012000316&rfr_iscdi=true |