The diagnosis of Beckwith-Wiedemann syndrome in a child and psychological implications to parents – A case report
نویسندگان
چکیده
INTRODUCTION: While Beckwith-Wiedemann syndrome is among rare genomic imprinting disorders, its diagnosis still presents challenges in clinical settings. Therefore, the aim of this work to present different phenotypic features syndrome. CASE PRESENTATION: We reviewed two-month-old patient referred genetic unit at Rwanda military hospital, Kigali, Rwanda. Physical examinations indicated severe larger birth length (macrosomia), Overgrowth right side lower limbs (hemihypertrophy/hemihyperplasia), tongue (macroglossia) and bigger abdomen. performed karyotype revealed a normal male chromosomal formula: 46,XY. CONCLUSION: Based on features, was diagnosed with Syndrome. However, cytogenetic tests were not advanced should rule out epigenetic abnormalities that account for our patient.
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ژورنال
عنوان ژورنال: Rwanda medical journal
سال: 2023
ISSN: ['2079-097X', '2410-8626']
DOI: https://doi.org/10.4314/rmj.v80i1.16