Treacher Collins Syndrome: A Case Report Andi Rahmayanti (a*), Nur Rakhmah (b), Deviana Soraya Riu (c), Anandha Mardiah Prefitri (c)
a) Obstetric and Gynecology Department
Hasanuddin University, Makassar - Indonesia
*andirahmayanti[at]gmail.com
b) Obstetric and Gynecology Department, Social Obstetric and Gynecology Division
Hasanuddin University, Makassar - Indonesia
c) Obstetric and Gynecology Department, Maternal Fetal Division
Hasanuddin University, Makassar - Indonesia
Abstract
Treacher Collins Syndrome is a rare genetic abnormality marked by craniofacial deformity. TCS incidence ranged around 1 from every 50.000 live births. This dominant autosomal abnormality was caused by genetic mutation, especially TCOF1 gene. Around 60% of the TCS cases happened due to de novo gene mutation, so there was no history of same disease found within the family. At the 2nd trimester antenatal visit, patient was suspected having congenital abnormality from ultrasound screening. We may found above normal amnion fluid / hydramnios, enlarged septum pellusidum, and a few other deformities on face and head suggesting there were intrauterine congenital abnormalities. Prenatal genetic examination is needed to diagnose TCS, but TCS that was found on the 2nd trimester ultrasound screening can help us to make better counseling for the families. TCS treatment depends on the abnormality found, but multidisciplinary therapy is usually required.
