Abstract
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.
Highlights
The observation of parental consandwarfism”, Online Mendelian Inheritance may be progressively limited by retinal vas- guinity is in keeping with an autosomal in Man number 210600, is a rare genetic culopathy
In a review of literature, Kalay et al limited resources, the diagnosis of rare concriteria combining intra-uterine growth reported a case of Seckel syndrome in ditions may be based on clinical observaretardation (IUGR) exceeding two standard South Africa;[6] to the best of our knowledge, tion and recognition of the typical phenodeviations, microcephaly often correlated to this is the first case diagnosed in Burkina type
SCKL1 has been reported from differ- age of 4 years and 8 months, as reported by al.[11] confirmed the heterogeneity of Seckel ent geographic areas worldwide, including Thapa et al[8]
Summary
Availability of data and materials: Data available upon reasonable request to the authors. Ethics approval and consent to participate: This study was conducted in accordance with all relevant guidelines and procedures. Informed consent: Informed consent has been obtained form the family.
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