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Roberts syndrome

Gonzalo A. Pérez-Canto Ch., MD. Gerardo Salamalé, MD. Engelbert Rincón, MD

Article Published: Jun 9, 2011

Unidad Ecográfica De la Costa. Clínica Guerra Mas. Puerto Cabello, Estado Carabobo, Venezuela.

Case report

This is a case of a 17-year-old patient, G2P1, who was referred to our department at 33 weeks of her pregnancy. The ultrasound examination revealed the phocomelia of upper and lower extremities. The final diagnosis was Roberts syndrome.  

Images 1,2: 3D-images of the affected fetus. Note the phocomelia of the upper extremities.

Roberts_Perez-Canto_1
Roberts_Perez-Canto_1a


Images 3,4: Images show phocomelia of the upper extremities.

Roberts_Perez-Canto_2
Roberts_Perez-Canto_3


Images 5,6: Image 5 shows humerus. Image 6 shows the transverse view of the chest with a 4-chamber view.

Roberts_Perez-Canto_9
Roberts_Perez-Canto_5


Images 7,8: Images of the lower extremities with phocomelia. 

Roberts_Perez-Canto_6
Roberts_Perez-Canto_10


Images 9,10: Images of the genitalia which resemble ambiguous genitalia, the "tulip sign".

Roberts_Perez-Canto_7
Roberts_Perez-Canto_8

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