Case of Seckel Syndrome in a 9-month-old Girl

INTRODUCTION: Seckel syndrome is a rare case. It belongs to an autosomal recessive disorder. commonly leads osteodysplastic, microcephaly, and dwarfism, which are proportional prenatal onset. Microcephaly, bird-headed-like appearance, mental retardation common dysmorphic in the future. This case report present patient with this will be discussed comprehensively. CASE REPORT: A 9-month-old girl came hospital chief complaint of growth disturbance. Her was not same as her peer. She stunted failed thrive. Microcephaly face (bird-headed) appeared broad face, prominent forehead, large eyes, curved nose, micrognathia were found physical examination. organ normal condition. According radiology examination, bone age appropriate for newborn (<3 months). Patient had global developmental delay. Based on clinical manifestation can witnessed syndrome, confirm diagnosis chromosomal test needed. There no specific treatment. Management intervention. CONCLUSION: disease. The challenging sometimes could miss diagnosed another syndrome. In case, made by presentation laboratory We assess gene or chromosome examination Meanwhile, limited need high cost. Educating family about patient’s condition has been done.