Hajdu-Cheney syndrome is a very rare connective tissue disorder. It has autosomal dominant inheritance or may occur due to spontaneous de novo mutation. Recent research suggests that it is caused by heterozygous mutation of terminal exon of NOTCH 2. Most characteristic findings include transverse band of acro-osteolysis involving the phalanges of both hands and feet and osteoporosis and deformities involving skull, mandible, spine and other bones. Patient may progressively develop kyphoscoliosis, basilar invagination, and bone fractures due to bone softening. Treatment is symptomatic. In this case report we present clinical and radiological features of a 43-year-old female patient who presented with features of Hajdu-Cheney syndrome.
Keywords: Acro-osteolysis; Hajdu-Cheney syndrome; NOTCH 2; acro-dento-osteo-dysplasia; wormian bones.