Hajdu-Cheney syndrome with growth hormone deficiency and neuropathy

A Hajdu-Cheney syndrome is a very rare congenital dysplastic bone disease i ncluding acroosteolysis, short stature, characteristic facies, osteopenia, abnormalities of spine, skull and long bones. A 9 year-old boy presented at our clinic with a chief complaint of short stature and frequent lower resp iratory tract infections. He had typical physical and radiographic features of Hajdu-Cheney syndrome associated with growth hormone (GH) deficiency an d peripheral motor neuropathy. To our knowledge, this is the first report d escribing GH deficiency and neuropathy in Hajdu-Cheney syndrome.