Data publikacji: 25 gru 2023
Zakres stron: 6 - 10
Otrzymano: 21 wrz 2022
Przyjęty: 21 lis 2022
DOI: https://doi.org/10.3889/oamjms.2023.10988
Słowa kluczowe
© 2023 Andreas Dhymas Dhyna Martha Kelana et al., published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial 4.0 International License.
INTRODUCTION
Seckel syndrome is a rare case. It belongs to an autosomal recessive disorder. It commonly leads to osteodysplastic, microcephaly, and dwarfism, which are proportional to prenatal onset. Microcephaly, bird-headed-like appearance, and mental retardation are common dysmorphic in the future. This case report present a patient with Seckel syndrome and this case will be discussed comprehensively.
CASE REPORT
A patient 9-month-old girl came to the hospital with a chief complaint of growth disturbance. Her growth was not the same as her peer. She was stunted and failed to thrive. Microcephaly and a dysmorphic face (bird-headed) appeared with a broad face, prominent forehead, large eyes, prominent curved nose, and micrognathia were found in physical examination. Her organ was in normal condition. According to the radiology examination, the bone age was appropriate for the age of a newborn (<3 months). Patient had global developmental delay. Based on clinical manifestation patient can be witnessed with Seckel syndrome, to confirm the diagnosis chromosomal test is needed. There is no specific treatment. Management for the patient was growth and developmental intervention.
CONCLUSION
Seckel syndrome is a rare disease. The diagnosis was challenging and sometimes could miss diagnosed with another syndrome. In this case, the diagnosis was made by clinical presentation and laboratory examination. There was no specific treatment. We assess the patient with Seckel syndrome. A gene or chromosome examination is needed. Meanwhile, the examination was limited and need a high cost. Educating the family about the patient’s condition has been done.