Treacher Collins Syndrome: Before and After Antenatal Diagnosis by Ultrasonography

Fetal 3D USG image showing receded jaw and small ears at 31 weeks gestation. In the family history, elder sibling had a clinical diagnosis of Treacher Collins syndrome. Parents were apparently normal; however mother's radiograph of skull was suggestive of mild hypoplasia of zygomatic arch. As the pregnancy was more than 20 weeks it was continued till term. Second image showed the post natal correlation of the USG finding. The severe micrognathia and microtia are clearly seen. The newborn suffered severe respiratory distress and expired at 36 h of life. Around 40% of the cases of autosomal dominant Treacher Collins syndrome have an affected parent. Family history may appear to be negative because of failure to recognize the mild expression of the disorder in family members. Careful examination and investigation of parents is warranted.