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SINDROMA PATAU: SEBUAH LAPORAN KASUS LANGKA
Sari
Abstrak: Sindroma Patau: Sebuah Laporan Kasus Langka. Trisomi 13 atau yang dikenal dengan sindroma Patau merupakan kelainan genetik langka dengan manifestasi klinis yang bersifat patologis akibat tambahan kromosom 13 dalam tubuh. Keadaan patologis ini disebabkan gangguan pemisahan komponen sel saat meiosis atau mitosis. Penyakit ini terkenal dengan angka penyintas yang rendah dan rerata usia penyintas tidak mampu lebih dari 1 tahun. Kami melaporkan kasus dengan seorang wanita usia 40 tahun G4P2A1 usia kehamilan 27-28 minggu dengan kehamilan yang menunjukkan adanya polihidramnion dan kelainan kongenital mutilpel saat pemeriksaan antenatal. Bayi dari perempuan tersebut dilahirkan 2 minggu kemudian dengan persalinan spontan karena adanya kontraksi uterus yang tidak terprediksi. Nilai APGAR menit pertama yaitu 4 dan menit kelima yaitu 5. Disebabkan kondisinya, bayi tersebut dibawa ke ruang perawatan intensif. Ketika dilakukan pemeriksaan fisik ditemukan polidaktili pada tangan kiri, clenched hand, low set ear, hipotelorisme, mikroftalmia, dan proboscis nose. Diagnosis bayi tersebut didasarkan atas pemeriksaan fisik dan riwayat pemeriksaan antenatal.
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DOI: https://doi.org/10.33024/jikk.v11i2.12572
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