The Seckel syndrome: A case observed in the pediatric department of the University Hospital Center Sourou Sanou (Burkina Faso)
Seckel syndrome-1 or “bird-headed dwarfism”, Online Mendelian Inheritance in Man number 210600, is a rare genetic disease with an autosomal recessive transmission. We report a female child of 56 months diagnosed with SCKL1 at the Pediatric department of the University Hospital Center Sourou Sanou, B...
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| Format: | Article |
| Language: | English |
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MDPI AG
2020-04-01
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| Series: | Pediatric Reports |
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| Online Access: | https://www.pagepress.org/journals/index.php/pr/article/view/8231 |
| _version_ | 1818864824318164992 |
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| author | Ad Bafa Ibrahim Ouattara Makoura Barro Sahoura Fatimata Nacro Ibraïma Traoré Bintou Sanogo Jean W. Diallo Boubacar Nacro |
| author_facet | Ad Bafa Ibrahim Ouattara Makoura Barro Sahoura Fatimata Nacro Ibraïma Traoré Bintou Sanogo Jean W. Diallo Boubacar Nacro |
| author_sort | Ad Bafa Ibrahim Ouattara |
| collection | DOAJ |
| description | Seckel syndrome-1 or “bird-headed dwarfism”, Online Mendelian Inheritance in Man number 210600, is a rare genetic disease with an autosomal recessive transmission. We report a female child of 56 months diagnosed with SCKL1 at the Pediatric department of the University Hospital Center Sourou Sanou, Burkina Faso. She showed the typical features including facial dysmorphism, dwarfism, microcephalus and mental retardation. Ophthalmic and dental anomaly and extremities were associated. Without a codified etiological treatment, a psychotherapist support, a genetic counseling, a regular pediatric follow-up, a quarterly odontostomatological and ophthalmological follow- up have been recommended. |
| first_indexed | 2024-12-19T10:37:47Z |
| format | Article |
| id | doaj.art-7af6d061029443afbb95720cdaba3401 |
| institution | Directory Open Access Journal |
| issn | 2036-749X 2036-7503 |
| language | English |
| last_indexed | 2024-12-19T10:37:47Z |
| publishDate | 2020-04-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Pediatric Reports |
| spelling | doaj.art-7af6d061029443afbb95720cdaba34012022-12-21T20:25:32ZengMDPI AGPediatric Reports2036-749X2036-75032020-04-0112110.4081/pr.2020.8231The Seckel syndrome: A case observed in the pediatric department of the University Hospital Center Sourou Sanou (Burkina Faso)Ad Bafa Ibrahim Ouattara0Makoura Barro1Sahoura Fatimata Nacro2Ibraïma Traoré3Bintou Sanogo4Jean W. Diallo5Boubacar Nacro6Pediatrics Department, University Hospital Center Sourou Sanou, Bobo-DioulassoPediatrics Department, University Hospital Center Sourou Sanou, Bobo-DioulassoPediatrics Department, University Hospital Center Sourou Sanou, Bobo-DioulassoOdonto-Stomatology Department, University Hospital Center Sourou Sanou, Bobo-DioulassoPediatrics Department, University Hospital Center Sourou Sanou, Bobo-DioulassoOphtalmology Department, University Hospital Center Sourou Sanou, Bobo-DioulassoPediatrics Department, University Hospital Center Sourou Sanou, Bobo-DioulassoSeckel syndrome-1 or “bird-headed dwarfism”, Online Mendelian Inheritance in Man number 210600, is a rare genetic disease with an autosomal recessive transmission. We report a female child of 56 months diagnosed with SCKL1 at the Pediatric department of the University Hospital Center Sourou Sanou, Burkina Faso. She showed the typical features including facial dysmorphism, dwarfism, microcephalus and mental retardation. Ophthalmic and dental anomaly and extremities were associated. Without a codified etiological treatment, a psychotherapist support, a genetic counseling, a regular pediatric follow-up, a quarterly odontostomatological and ophthalmological follow- up have been recommended.https://www.pagepress.org/journals/index.php/pr/article/view/8231Seckelbird-headed dwarfism-child |
| spellingShingle | Ad Bafa Ibrahim Ouattara Makoura Barro Sahoura Fatimata Nacro Ibraïma Traoré Bintou Sanogo Jean W. Diallo Boubacar Nacro The Seckel syndrome: A case observed in the pediatric department of the University Hospital Center Sourou Sanou (Burkina Faso) Pediatric Reports Seckel bird-headed dwarfism-child |
| title | The Seckel syndrome: A case observed in the pediatric department of the University Hospital Center Sourou Sanou (Burkina Faso) |
| title_full | The Seckel syndrome: A case observed in the pediatric department of the University Hospital Center Sourou Sanou (Burkina Faso) |
| title_fullStr | The Seckel syndrome: A case observed in the pediatric department of the University Hospital Center Sourou Sanou (Burkina Faso) |
| title_full_unstemmed | The Seckel syndrome: A case observed in the pediatric department of the University Hospital Center Sourou Sanou (Burkina Faso) |
| title_short | The Seckel syndrome: A case observed in the pediatric department of the University Hospital Center Sourou Sanou (Burkina Faso) |
| title_sort | seckel syndrome a case observed in the pediatric department of the university hospital center sourou sanou burkina faso |
| topic | Seckel bird-headed dwarfism-child |
| url | https://www.pagepress.org/journals/index.php/pr/article/view/8231 |
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