A Case Report of Cornelia De Lange Syndrome in Northern Iran; A Clinical and Diagnostic Study
As a rare multisystem congenital anomaly disorder, Cornelia de Lange syndrome (CdLS) is featured by delayed growth and development, distinct facial dimorphism, limb malformations and multiple organ defects. CdLS is a genetic syndrome affecting 1/10000-1/60000 neonates with unknown genetic basis. D...
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| Format: | Article |
| Language: | English |
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JCDR Research and Publications Private Limited
2016-02-01
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| Series: | Journal of Clinical and Diagnostic Research |
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| Online Access: | https://jcdr.net/articles/PDF/7267/16947_CE(RA1)_F(T)_PF1(VIAK)_PFA(AK)_PF2(PAG).pdf |
| _version_ | 1818043096111251456 |
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| author | Seyyed-Mohsen Hosseininejad Behna Z Bazrafshan Ehsan Alaee |
| author_facet | Seyyed-Mohsen Hosseininejad Behna Z Bazrafshan Ehsan Alaee |
| author_sort | Seyyed-Mohsen Hosseininejad |
| collection | DOAJ |
| description | As a rare multisystem congenital anomaly disorder, Cornelia de Lange syndrome (CdLS) is featured by delayed growth and development,
distinct facial dimorphism, limb malformations and multiple organ defects. CdLS is a genetic syndrome affecting 1/10000-1/60000
neonates with unknown genetic basis. Delayed growth and development, hirsute, structural anomalies of the limbs and distinct facial
dimorphism are considered as its main clinical characteristics. Introducing CdLS cases of different ethnic backgrounds could add
distinctions to the phenotypic picture of the syndrome and be useful in diagnosis. Early diagnosis and decreased death rates are
achievable through enhanced awareness on this syndrome. We present here a 45-day-old girl, as the first case of Cornelia in Golestan
(Northern Iran), referred to our hospital with the symptoms as mentioned above. |
| first_indexed | 2024-12-10T08:56:46Z |
| format | Article |
| id | doaj.art-f2f778901dc8459a8033176cae493e7b |
| institution | Directory Open Access Journal |
| issn | 2249-782X 0973-709X |
| language | English |
| last_indexed | 2024-12-10T08:56:46Z |
| publishDate | 2016-02-01 |
| publisher | JCDR Research and Publications Private Limited |
| record_format | Article |
| series | Journal of Clinical and Diagnostic Research |
| spelling | doaj.art-f2f778901dc8459a8033176cae493e7b2022-12-22T01:55:24ZengJCDR Research and Publications Private LimitedJournal of Clinical and Diagnostic Research2249-782X0973-709X2016-02-01102SD03SD0510.7860/JCDR/2016/16947.7267A Case Report of Cornelia De Lange Syndrome in Northern Iran; A Clinical and Diagnostic StudySeyyed-Mohsen Hosseininejad0Behna Z Bazrafshan1Ehsan Alaee2Student, Department of Medicine, Student Research Committee, Golestan University of Medical Sciences, Gorgan, Iran.Medical Cellular and Molecular Research Center, Golestan University of Medical Sciences, Gorgan, Iran. Assistant Professor, Department of Neonatologist, Neonatal and Children’s Health Research Center, Golestan University of Medical Sciences, Gorgan, Iran. As a rare multisystem congenital anomaly disorder, Cornelia de Lange syndrome (CdLS) is featured by delayed growth and development, distinct facial dimorphism, limb malformations and multiple organ defects. CdLS is a genetic syndrome affecting 1/10000-1/60000 neonates with unknown genetic basis. Delayed growth and development, hirsute, structural anomalies of the limbs and distinct facial dimorphism are considered as its main clinical characteristics. Introducing CdLS cases of different ethnic backgrounds could add distinctions to the phenotypic picture of the syndrome and be useful in diagnosis. Early diagnosis and decreased death rates are achievable through enhanced awareness on this syndrome. We present here a 45-day-old girl, as the first case of Cornelia in Golestan (Northern Iran), referred to our hospital with the symptoms as mentioned above.https://jcdr.net/articles/PDF/7267/16947_CE(RA1)_F(T)_PF1(VIAK)_PFA(AK)_PF2(PAG).pdfearly diagnosisfemalehirsutism |
| spellingShingle | Seyyed-Mohsen Hosseininejad Behna Z Bazrafshan Ehsan Alaee A Case Report of Cornelia De Lange Syndrome in Northern Iran; A Clinical and Diagnostic Study Journal of Clinical and Diagnostic Research early diagnosis female hirsutism |
| title | A Case Report of Cornelia De Lange Syndrome in Northern Iran; A Clinical and Diagnostic Study |
| title_full | A Case Report of Cornelia De Lange Syndrome in Northern Iran; A Clinical and Diagnostic Study |
| title_fullStr | A Case Report of Cornelia De Lange Syndrome in Northern Iran; A Clinical and Diagnostic Study |
| title_full_unstemmed | A Case Report of Cornelia De Lange Syndrome in Northern Iran; A Clinical and Diagnostic Study |
| title_short | A Case Report of Cornelia De Lange Syndrome in Northern Iran; A Clinical and Diagnostic Study |
| title_sort | case report of cornelia de lange syndrome in northern iran a clinical and diagnostic study |
| topic | early diagnosis female hirsutism |
| url | https://jcdr.net/articles/PDF/7267/16947_CE(RA1)_F(T)_PF1(VIAK)_PFA(AK)_PF2(PAG).pdf |
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