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2016-02-10  Case of the week # 420  © Emmanuel Julien

Answer to the case of the week # 420
May 12, 2016 - May 26, 2016.

Emmanuel Julien, MD.
- Centre hospitalier Le Mans, France.

Case report

A 28 year old woman (G3P2) was referred at 34 weeks of pregnancy to evaluate polyhydramnios. 
Her personal anamnesis was unremarkable but the husband was affected by brachiootorenal syndrome (BOR syndrome) since he was 10-year old. He has a corrected hearing loss, normal kidneys and renal function and branchial fistulae treated by surgery.

The mother has two children; a healthy girl and a boy 
 with the same condition as his father. 
The current fetus is a girl. We confirmed polyhydramnios (no anomalies in palate or oesophagus) and found both kidneys at 5th percentile but with normal corticomedullary differentiation.

3D images revealed external ears similar to his father, small and mildly dysplastic. Also we found signs of branchial fistulae in one of the ears.

The baby was born at term (3,320 gr - 50cm) and pediatricians confirm she is affected with BOR syndrome, with small kidneys, branchial fistulae and internal ear anomalies.

In our examination we obtained the following images:


Images 1-4: 2D images showing normal biometry and polyhydramnios.


Images 5-8: 
2D images showing normal brain and both kidneys on 5th percentile for gestational age.


Images 9 and 10: 
2D and color doppler images of the normal 4 chamber view and left outflow tract.

Image 11: 3D rendering of the external ears. One of them is small and dysplastic and in the other one, we saw a preauricular sinus suggesting the presence of branchial fistula, confirmed after birth.

Images 12 and 13: 
3D rendering of normal face and hands.


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