Dislocated thumbs, probably Diastrophic dysplasia

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

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

Case report

This is a case of a 19-year-old patient, G2P1, who was referred to our department at 34 weeks of gestation for a routine ultrasound scan. The ultrasound revealed the shortening of the long bones femur and humerus, their length corresponded with 30 weeks of gestation. Both thumbs were dislocated had the appearance of the "hitchhiker's thumbs". Our diagnosis based on the ultrasound findings was diastrophic dysplasia. Unfortunately, we don't have any postnatal confirmation of our diagnosis.

Images 1,2: Image 1 shows the fetal face. Image 2 shows the fetal profile.

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Images 3,4: Image 3 shows an axial view of the fetal brain with borderline size of the lateral ventricle. Image 4 shows the transverse view of the chest with a 4-chamber view. 

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Images 5,6: Image 5 shows a fetal foot. Image 6 shows the "hitchhiker's thumb".

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Images 7-9: 3D-images of the "hitchhiker's thumb".

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Diastrophic_Perez-Canto_8
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