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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Detalles Bibliográficos
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
Descripción
Sumario: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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