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2012-02-07-12 Case of the week #320 ©Fabrice Cuillier www.TheFetus.net 

Case of the week # 320
June 7th 2012, June 21st ,2012.
Fabrice Cuillier, MD
Department of Gynecology, Hopital Felix Guyon, 97400 Saint-Denis, Ile de la Reunion, France.


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.
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