Proximal femoral focal deficiency - bilateral

Case contributed by Dr Hani Salam

Presentation

Multiple abnormalities at birth.

Patient Data

Age: Neonate

Skeletal survey obtained at birth demonstrates a number of abnormalities. In addition to bilateral PFFD both feet have only four digits and the right arm is absent distal to the elbow joint. 

Note bilateral proximal focal femoral deficiency. On the right, the acetabulum is moderately dysplastic and the femoral head is dislocated. On the left femoral deficiency is more severe. 

Case Discussion

Proximal femoral focal deficiency with oligodactyly and absent right forearm.

X-ray of the pelvis demonstrates bilateral PFFD. On the right the acetabulum is moderately dysplastic and the femoral head is dislocated (likely class B). On the left femoral deficiency is more severe with a short proximally tapered femur (class C) - see classification of PFFD

Skeletal survey obtained at birth demonstrates a number of abnormalities. In addition to bilateral PFFD both feet have only four digits and the right arm is absent distal to the elbow joint. 

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Case information

rID: 10813
Published: 25th Sep 2010
Last edited: 15th Dec 2019
Inclusion in quiz mode: Included

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