Diagnosis dan Tatalaksana Sindrom Treacher Collins
DOI:
https://doi.org/10.55175/cdk.v47i6.620Kata Kunci:
Diagnosis, malformasi kraniofasial, sindrom Treacher Collins, tatalaksanaAbstrak
Sindrom Treacher Collins adalah penyakit genetik langka yang menyebabkan berbagai malformasi kongenital terutama di kraniofasial. Diagnosis dapat ditegakkan sejak periode prenatal atau postnatal, analisis genetik untuk menentukan adanya mutasi gen merupakan diagnosis definitif. Tatalaksana multidisiplin dengan perencanaan tindakan operatif ataupun non-operatif sejak lahir hingga usia dewasa.
Treacher Collins syndrome is a rare genetic disease which causes various congenital malformations mainly in the craniofacial region. Diagnosis can be made in prenatal or postnatal period, genetic analysis to determine gene mutation remains as definitive diagnosis. Management requires a multidisciplinary approach, with of either operative or non-operative planning since birth to adult.
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Referensi
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