Prader–Willi syndrome with secondary ankle/foot deformity

Case contributed by Dr Charlie Chia-Tsong Hsu

Patient Data

Age: 35
Gender: Male

Marked obesity is evident by the excessive soft tissue. Right forefoot varus is present with convergence of metatarsals bases (AP) and plantarflexed 5th metatarsal on the lateral view. Normal right talometatarsal axis on the lateral view. Left Pes planus deformity is present with pronounced arthritic changes in the mid-tarsal joints. Syndactyly/clinodactyly deformities of the bilateral 4th/5th proximal and distal phalanges are known to be associated with chromosomal aberration.

Case Discussion

Prader-Willi syndrome is caused by gene deletion or partial deletion of chromosome 15 (q 11–13). Children with Prader-Willi syndrome have an intense craving for food (hyerphagia), which results in morbid obesity and predispose to type II diabetes, high blood pressure and early degenerative joint disease as evident in this case. 

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Case information

rID: 19202
Published: 16th Aug 2012
Last edited: 14th Aug 2019
Inclusion in quiz mode: Included

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