Townes-Brocks syndrome with overlapping features of hemifacial microsomia
Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. Major findings include external ear anomalies, hearing loss, limb deformity, imperforate anus, and renal malformations. Intelligence is usually normal, although mild moderate mental re...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2013-01-01
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| Series: | Journal of Orofacial Sciences |
| Subjects: | |
| Online Access: | http://www.jofs.in/article.asp?issn=0975-8844;year=2013;volume=5;issue=1;spage=42;epage=46;aulast=Guruprasad |
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| author | Yadavalli Guruprasad Dinesh Singh Chauhan |
| author_facet | Yadavalli Guruprasad Dinesh Singh Chauhan |
| author_sort | Yadavalli Guruprasad |
| collection | DOAJ |
| description | Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. Major findings include external ear anomalies, hearing loss, limb deformity, imperforate anus, and renal malformations. Intelligence is usually normal, although mild moderate mental retardation has been reported. It can be difficult to differentiate clinically between hemifacial microsomia (HFM) and Townes-Brocks syndrome (TBS). The distinction is important because TBS is inherited as an autosomal dominant trait, whereas HFM is sporadic. We report a classical case of TBS with overlapping features of hemifacial microsomia in an 11 year old boy who presented with unilateral anotia with hearing defect, renal agenesis and imperforate anus by birth. |
| first_indexed | 2024-12-10T06:21:40Z |
| format | Article |
| id | doaj.art-12afe18a14c24213ad55fe1a37946354 |
| institution | Directory Open Access Journal |
| issn | 0975-8844 |
| language | English |
| last_indexed | 2024-12-10T06:21:40Z |
| publishDate | 2013-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Journal of Orofacial Sciences |
| spelling | doaj.art-12afe18a14c24213ad55fe1a379463542022-12-22T01:59:18ZengWolters Kluwer Medknow PublicationsJournal of Orofacial Sciences0975-88442013-01-0151424610.4103/0975-8844.113693Townes-Brocks syndrome with overlapping features of hemifacial microsomiaYadavalli GuruprasadDinesh Singh ChauhanTownes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. Major findings include external ear anomalies, hearing loss, limb deformity, imperforate anus, and renal malformations. Intelligence is usually normal, although mild moderate mental retardation has been reported. It can be difficult to differentiate clinically between hemifacial microsomia (HFM) and Townes-Brocks syndrome (TBS). The distinction is important because TBS is inherited as an autosomal dominant trait, whereas HFM is sporadic. We report a classical case of TBS with overlapping features of hemifacial microsomia in an 11 year old boy who presented with unilateral anotia with hearing defect, renal agenesis and imperforate anus by birth.http://www.jofs.in/article.asp?issn=0975-8844;year=2013;volume=5;issue=1;spage=42;epage=46;aulast=GuruprasadAnotia, chromosome 16q12.1, hemifacial microsomia, imperforate anus, renal agenesis, Townes-Brocks syndrome |
| spellingShingle | Yadavalli Guruprasad Dinesh Singh Chauhan Townes-Brocks syndrome with overlapping features of hemifacial microsomia Journal of Orofacial Sciences Anotia, chromosome 16q12.1, hemifacial microsomia, imperforate anus, renal agenesis, Townes-Brocks syndrome |
| title | Townes-Brocks syndrome with overlapping features of hemifacial microsomia |
| title_full | Townes-Brocks syndrome with overlapping features of hemifacial microsomia |
| title_fullStr | Townes-Brocks syndrome with overlapping features of hemifacial microsomia |
| title_full_unstemmed | Townes-Brocks syndrome with overlapping features of hemifacial microsomia |
| title_short | Townes-Brocks syndrome with overlapping features of hemifacial microsomia |
| title_sort | townes brocks syndrome with overlapping features of hemifacial microsomia |
| topic | Anotia, chromosome 16q12.1, hemifacial microsomia, imperforate anus, renal agenesis, Townes-Brocks syndrome |
| url | http://www.jofs.in/article.asp?issn=0975-8844;year=2013;volume=5;issue=1;spage=42;epage=46;aulast=Guruprasad |
| work_keys_str_mv | AT yadavalliguruprasad townesbrockssyndromewithoverlappingfeaturesofhemifacialmicrosomia AT dineshsinghchauhan townesbrockssyndromewithoverlappingfeaturesofhemifacialmicrosomia |