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2004-05-19-15 Answer to case of the week # 117 © Martinez

Answer to case of the week # 117

April 23-May 6, 2004

Raul Martinez, MD

Unidad Regiomontana de Diagnostico, Monterrey, N.L., Mexico.

A 29-year-old woman with no family history of malformations or genetic disorders attended the ultrasound unit at 22 weeks and had a routine examination.

Figures 1-15: Fetal profile with severe micrognathia and hypoplastic left forearm.

Figures 16- 19: Normal lower limbs

Figure 20: Fetal gender.

Figures 21-24: Normal four-chamber, interventricular septum and left ventricle outflow tract

Figure 25: Fetal heart rate

The scan showed a normally developed male fetus, with severe micrognathia associated to shortening of both forearms, in the left side with fixed elbow, curved ulna, and absence of the radius and the thumb. Lower limbs were of normal length. The rest of the exploration was also normal. This was considered to be consistent with Nager syndrome which was confirmed after delivery.

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