UNIVERSITAS AIRLANGGA



Detail Article

Jurnal THT - KL

ISSN 23378417

Vol. 6 / No. 3 / Published : 2013-09

Order : 3, and page :107 - 116

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Original Article :

Treacher collins syndrome (a case report)

Author :

  1. Anita Nuraini*1
  2. Haris M. Ekorini*2
  1. Mahasiswa Fakultas Kedokteran
  2. Dosen Fakultas Kedokteran

Abstract :

Sindroma Treacher Collins adalah gangguan disostosis mandibulofasial yang diturunkan secara autosomal dominan, terkait gen Treacher Collins – Franceschetti (TCOF1) pada kromosom 5. Spektrum klinisnya mempunyai variasi cukup lebar, mulai yang ringan sampai berat. Diperlukan penanganan komprehensif dengan pendekatan multidisiplin. Dilaporkan satu kasus sindroma Treacher Collins bentuk klinis complete pada anak usia 14 bulan. Pemeriksaan telinga didapatkan malformasi pinna, mikrotia dan atresia MAE bilateral. Pemeriksaan kepala didapatkan mikrognatia, penurunan fisura palpebra, koloboma, silia palpebra tipis dan makrostomia. Pemeriksaan Behavioural Observation Audiometry (BOA) didapatkan level respon minimal 50 dB SPL. Pemeriksaan Auditory Brainstem Response (ABR) disimpulkan perkiraan ambang dengar 55-60 dB dan tuli konduksi sedang. Pemeriksaan computerized tomography (CT) scan kepala didapatkan aplasia MAE, osikula tidak tampak, pengecilan mandibula, maksila dan zigoma bilateral. Pemeriksaan magnetic resonance imaging (MRI) kepala tampak kanalis auditorius internus dan syaraf kranialis VII dan VIII bilateral. Pasien diberikan Alat Bantu Dengar (ABD) hantaran tulang dan terapi bicara. Pemeriksaan BOA aided didapatkan level respon minimal 30 dB SPL.

Keyword :

Sindroma Treacher Collins, atresia MAE, tuli konduksi, ABD hantaran tulang,


References :

Gijn DR, Tucker AS, Cobourne MT,(2013) Craniofacial development: current concepts in the molecular basis of Treacher Collins syndrome 51: p.384-8 : British Journal of Oral and Maxillofacial Surgery

Mehrotra D, Hasan M, Pandey R, Kumar S,(2011) Clinical spectrum of Treacher Collins syndrome 1: p.36-40 : Journal of Oral Biology and Craniofacial Research

Kasat V, Baldawa R,(2011) Treacher Collins syndrome – a case report and review of literature 3(suppl 1): p.395-9 : Journal of Clinical and Experimental Dentistry

Tasar M, Yetiser S, Yildirim D, Bozlar U, Tasar MA, Saglam M, et al,(2007) Preoperative evaluation of the congenital aural atresia on computed tomography; an analysis of the severity of the deformity of the middle ear and mastoid 62: p.97-105 : European Journal of Radiology

Islam F, Afroza A, Rukunuzzaman MD, Rahman A, Hassan S,(2008) Treacher Collins syndrome – a case report 32(suppl 1):33-6 : Journal of Child Health





Archive Article

Cover Media Content

Volume : 6 / No. : 3 / Pub. : 2013-09
  1. Validity Of Biopsy Examination Using Narrow Band Imaging Approach On Suspected Nasopharingeal Carcinoma Patients
  2. Removal Of A Fish Hook Foreign Body From The Esophagus (a Case Report)
  3. Treacher Collins Syndrome (a Case Report)
  4. Selecting Candidates For Bone Anchored Hearing Aid
  5. The Role Of Cisplatin On Tumor Cell Senescence In Cancer Treatment

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