Solitary Band Acro-osteolysis in Hajdu-Cheney Syndrome.

Abstract

Hajdu-Cheney syndrome (HCS) is a rare autosomal dominant manifestation of a genetic disorder caused by a mutation in the NOTCH2 gene, resulting in acro-osteolysis and generalized osteoporosis, accompanied by many developmental skeletal disorders and multiple clinical and radiological manifestations.1Radiographs of the hands of an 11-year-old boy with shorter left thumb and lower back pain show solitary band acro-osteolysis and shortening of the distal phalange of the left thumb (Figure 1A, with Figure 1B showing enlarged images of both thumbs).