Cornelia De Lange Syndrome: A Case Report
Cornelia de Lange syndrome (CdLS) is a rare syndrome characterized by multiple congenital anomalies, mental retardation, characteristic facial appearance, developmental delay, skeletal malformation, hirsutism, and various cardiac and ophthalmological problems. The diagnosis of this syndrome is clini...
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| Format: | Article |
| Language: | English |
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Tehran University of Medical Sciences
2009-12-01
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| Series: | Journal of Tehran University Heart Center |
| Subjects: | |
| Online Access: | http://journals.tums.ac.ir/PdfMed.aspx?pdf_med=/upload_files/pdf/14822.pdf&manuscript_id=14822 |
| _version_ | 1818296681858334720 |
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| author | Hojatollah Mortezaian Mohammad Yousef Aarabi Moghaddam Seyed Reza Miri |
| author_facet | Hojatollah Mortezaian Mohammad Yousef Aarabi Moghaddam Seyed Reza Miri |
| author_sort | Hojatollah Mortezaian |
| collection | DOAJ |
| description | Cornelia de Lange syndrome (CdLS) is a rare syndrome characterized by multiple congenital anomalies, mental retardation, characteristic facial appearance, developmental delay, skeletal malformation, hirsutism, and various cardiac and ophthalmological problems. The diagnosis of this syndrome is clinical. The patient of the present case report was the second case of CdLS from Iran; only a few cases of CdLS have thus far been reported from countries outside Europe and North America. Reporting CdLS cases of different ethnic backgrounds can add nuances to the phenotypic description of the syndrome and be helpful in diagnosis. Furthermore, an increased awareness of this syndrome may result in an early diagnosis and a decrease in morbidity. |
| first_indexed | 2024-12-13T04:07:25Z |
| format | Article |
| id | doaj.art-81d73ad6a77f4cd1857a1693fdcb1615 |
| institution | Directory Open Access Journal |
| issn | 1735-8620 |
| language | English |
| last_indexed | 2024-12-13T04:07:25Z |
| publishDate | 2009-12-01 |
| publisher | Tehran University of Medical Sciences |
| record_format | Article |
| series | Journal of Tehran University Heart Center |
| spelling | doaj.art-81d73ad6a77f4cd1857a1693fdcb16152022-12-22T00:00:09ZengTehran University of Medical SciencesJournal of Tehran University Heart Center1735-86202009-12-0144244247Cornelia De Lange Syndrome: A Case ReportHojatollah MortezaianMohammad Yousef Aarabi MoghaddamSeyed Reza MiriCornelia de Lange syndrome (CdLS) is a rare syndrome characterized by multiple congenital anomalies, mental retardation, characteristic facial appearance, developmental delay, skeletal malformation, hirsutism, and various cardiac and ophthalmological problems. The diagnosis of this syndrome is clinical. The patient of the present case report was the second case of CdLS from Iran; only a few cases of CdLS have thus far been reported from countries outside Europe and North America. Reporting CdLS cases of different ethnic backgrounds can add nuances to the phenotypic description of the syndrome and be helpful in diagnosis. Furthermore, an increased awareness of this syndrome may result in an early diagnosis and a decrease in morbidity.http://journals.tums.ac.ir/PdfMed.aspx?pdf_med=/upload_files/pdf/14822.pdf&manuscript_id=14822De Lange SyndromeDyspneaHeart MurmursCongenital Abnormalities |
| spellingShingle | Hojatollah Mortezaian Mohammad Yousef Aarabi Moghaddam Seyed Reza Miri Cornelia De Lange Syndrome: A Case Report Journal of Tehran University Heart Center De Lange Syndrome Dyspnea Heart Murmurs Congenital Abnormalities |
| title | Cornelia De Lange Syndrome: A Case Report |
| title_full | Cornelia De Lange Syndrome: A Case Report |
| title_fullStr | Cornelia De Lange Syndrome: A Case Report |
| title_full_unstemmed | Cornelia De Lange Syndrome: A Case Report |
| title_short | Cornelia De Lange Syndrome: A Case Report |
| title_sort | cornelia de lange syndrome a case report |
| topic | De Lange Syndrome Dyspnea Heart Murmurs Congenital Abnormalities |
| url | http://journals.tums.ac.ir/PdfMed.aspx?pdf_med=/upload_files/pdf/14822.pdf&manuscript_id=14822 |
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