Case report:

A 25-year-old primigravida woman was referred to us at 28 weeks for suspicion of micro-retrognathism.

There is unremarkable family history and no teratogen treatment.

An amniocentesis was performed at 30 weeks (46 XY). On 2D and 3D ultrasound with multiplanar reconstruction and surface rendering with a voluson 730 US machine demonstrates bilateral pre-auricular tag with normal ears. 2D sagital views of the face at 29 weeks showed retrognatism with normal nose bones.

At 38 weeks, a masculine infant (2870 gr) was born with normal Apgar.

Post-natal assessment confirmed the prenatal diagnosis of Goldenhar Syndrome. A left eyelid coloboma was present. Retrognathism was confirmed with partial left mandibular agenesia. During the first three months, the baby was hospitalized several times for deglutition disorders.

Image 1 : 2D-dimensional surface rendered view at 29 weeks demonstrates right and left ear dysplasia and preauricular tag.

Image 2,3 : Coronal view of mouth and face at 28 weeks.

Image 4, 5 : 3D surface rendered view at 29 weeks shows preauricular tags and ear dysplasia.

Image 6, 7 : 2D sagital views of the face at 29 weeks shows retrognatism with normal nose bones.

Image 8: Postnatal view of the facial profile.

See also Goldernhar syndrome.