There was a pregnant woman who was found abnormal at 23 weeks of pregnancy. The examination results show that the baby's jaw is retracted, the outer canthus is drooping, and the upper jaw is protruding, which looks like a "bird face". At the same time, the baby's double auricles are stunted, showing microtia, and it is highly suspected that the baby is "bird face syndrome".

What is "bird face syndrome"?

Treacher-Collins syndrome is also called maxillofacial bone hypoplasia and deafness syndrome. It is due to the abnormal development of the first and second buccal arches 7 ~ 8 weeks ago. It is autosomal dominant inheritance, showing different degrees of dominance, and the incidence rate is1/50 thousand. About half of TreacherCollins syndrome is caused by fred gene mutation, but it is not directly inherited from parents, so it can be sporadic in clinic. On the contrary, there is a 50% chance that such children will be passed on to the next generation. The syndrome is not progressive and the symptoms will not get worse. Some cases will improve with growth and surgical treatment. There are many such patients abroad who have grown up.

Bird face syndrome is a non-fatal deformity. In addition to facial changes, babies with bird face syndrome are generally accompanied by symptoms such as microtia, atresia of external auditory canal and deafness, which need further plastic surgery.

This deformity is hereditary. If the father, mother or immediate family members have this special face, the pregnant mother should conduct prenatal screening on time and check the baby.

Obstetricians once again reminded pregnant mothers not to miss these three opportunities to screen for fetal malformations: