Hajdu-Cheney syndrome

Case contributed by Dr Salman S. Albakheet

Presentation

Bilateral hand, foot, and facial deformities.

Patient Data

Age: 40 years
Gender: Female
X-ray

Hands: progressive transverse band like acro-osteolysis of all fingers. Juxta-articular osteopenia. 

Feet: destructive change and dislocation of MTP and IP joints. Bone erosion and osteolysis of MTP, intercarpal, and PIP joints.  Severe juxta-articular osteopenia.   

Skull: multiple intrasutural Wormian bones. Midfacial hypoplasia, macrocephalyplatybasia and delayed closure of sutures.

Case Discussion

Hajdu-Cheney syndrome is associated with osteoporosis, bony deformities and acro-osteolysis. It follows an autosomal dominant inheritance but can also result from spontaneous de novo mutations.

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