Diagnosis dan Tatalaksana Sindrom Treacher Collins
Abstract
ABSTRAK
Pendahuluan: Sindrom Treacher Collins adalah penyakit genetik langka yang menyebabkan berbagai malformasi kongenital dengan manifestasi klinis terutama di bagian kraniofasial.
Pembahasan: Diagnosis dapat dilakukan sejak periode prenatal atau postnatal, namun analisa genetik merupakan diagnosis definitif untuk menentukan adanya mutasi gen. Tatalaksana pasien membutuhkan tim multidisiplin dengan perencanaan tindakan operatif maupun non-operatif yang dilakukan sejak lahir sampai usia dewasa.
Kesimpulan: Diagnosis dan penanganan Sindrom Treacher Collins masih merupakan tantangan karena aspek fungsional dan estetik pasien harus dipertimbangkan. Pasien yang telah didiagnosis harus segera dirujuk ke pusat khusus dengan tim kraniofasial yang melibatkan tim multidisipilin.
Kata kunci: Diagnosis, malformasi kraniofasial, Sindrom Treacher Collins, tatalaksana
ABSTRACT
Introduction: Treacher Collins syndrome is a rare genetic disease which causes various congenital malformation with clinical manifestation mainly in the craniofacial region.
Discussion: Diagnosis can be made since prenatal or postnatal period, however genetic analysis remains as definitive diagnosis to determine gene mutation. Management of patient requires a multidisciplinary team, with planning of operative or non-operative approaches since birth to adult.
Conclusion: Diagnosis and management of Treacher Collins syndrome is still a challenge due to patient’s functional and esthetic aspect that must be fully considered. Patient who has been diagnosed must promptly be referred to specialized center with craniofacial team involving multidisciplinary team.
Keywords: Diagnosis, craniofacial malformation, Treacher Collins syndrome, management
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References
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