Apert syndrome with syndactyly

Case contributed by Dr Andrew Dixon

Presentation

Infant with skeletal deformity.

Patient Data

Age: 2 years
Gender: Male
X-ray

Apert syndrome with syndactyly of the 3rd and 4th digits and synostosis of the corresponding distal phalanges. The phalanges generally appear short and broad.

CT

CT age 6

Apert syndrome with craniosynostosis of the coronal suture. 

Case Discussion

Right hand radiograph reveals syndactyly of the 3rd and 4th digits with synostosis of the corresponding distal phalanges and of the 4th proximal interphalangeal joint. The phalanges generally appear broad.

Surface rendered 3D CT of the skull and facial skeleton shows craniosynostosis of the coronal suture.

The combined features are consistent with Apert syndrome.

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Case information

rID: 10315
Case created: 2nd Aug 2010
Last edited: 8th Jan 2016
Inclusion in quiz mode: Included

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