Presentation
Bilateral hand, foot, and facial deformities.
Patient Data
Age: 40 years
Gender: Female
From the case:
Hajdu-Cheney syndrome
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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, macrocephaly, platybasia 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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