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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Autores principales: Ouattara, Ad Bafa Ibrahim, Barro, Makoura, Nacro, Sahoura Fatimata, Traoré, Ibraïma, Sanogo, Bintou, Diallo, Jean W., Nacro, Boubacar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: PAGEPress Scientific Publications, Pavia, Italy 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7160856/
https://www.ncbi.nlm.nih.gov/pubmed/32308969
http://dx.doi.org/10.4081/pr.2020.8231
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author Ouattara, Ad Bafa Ibrahim
Barro, Makoura
Nacro, Sahoura Fatimata
Traoré, Ibraïma
Sanogo, Bintou
Diallo, Jean W.
Nacro, Boubacar
author_facet Ouattara, Ad Bafa Ibrahim
Barro, Makoura
Nacro, Sahoura Fatimata
Traoré, Ibraïma
Sanogo, Bintou
Diallo, Jean W.
Nacro, Boubacar
author_sort Ouattara, Ad Bafa Ibrahim
collection PubMed
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.
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spelling pubmed-71608562020-04-17 The Seckel syndrome: A case observed in the pediatric department of the University Hospital Center Sourou Sanou (Burkina Faso) Ouattara, Ad Bafa Ibrahim Barro, Makoura Nacro, Sahoura Fatimata Traoré, Ibraïma Sanogo, Bintou Diallo, Jean W. Nacro, Boubacar Pediatr Rep Case Report 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. PAGEPress Scientific Publications, Pavia, Italy 2020-04-07 /pmc/articles/PMC7160856/ /pubmed/32308969 http://dx.doi.org/10.4081/pr.2020.8231 Text en ©Copyright: the Author(s) http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Ouattara, Ad Bafa Ibrahim
Barro, Makoura
Nacro, Sahoura Fatimata
Traoré, Ibraïma
Sanogo, Bintou
Diallo, Jean W.
Nacro, Boubacar
The Seckel syndrome: A case observed in the pediatric department of the University Hospital Center Sourou Sanou (Burkina Faso)
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 Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7160856/
https://www.ncbi.nlm.nih.gov/pubmed/32308969
http://dx.doi.org/10.4081/pr.2020.8231
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