title: Hajdu-Cheney syndrome with growth hormone deficiency and neuropathy.
abstract: A Hajdu-Cheney syndrome is a very rare congenital dysplastic bone disease including acro-osteolysis, 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 respiratory tract infections. He had typical physical and radiographic features of Hajdu-Cheney syndrome associated with growth hormone (GH) deficiency and peripheral motor neuropathy. To our knowledge, this is the first report describing GH deficiency and neuropathy in Hajdu-Cheney syndrome.
authors.affiliation: Department of Pediatrics, Ankara Hospital, Turkey. ortohum@superonline.com
authors.forename: Z
authors.initials: Z
authors.lastname: Siklar
authors.forename: G
authors.initials: G
authors.lastname: Tanyer
authors.forename: Y
authors.initials: Y
authors.lastname: Dallar
authors.forename: F G
authors.initials: FG
authors.lastname: Aksoy
mesh_terms: D015502:Absorptiometry, Photon; D013006:Growth Hormone / Q000172:deficiency*; D006801:Humans; D008297:Male; D009046:Motor Neurons / Q000473:pathology; D010015:Osteolysis, Essential / Q000150:complications* / Q000503:physiopathology; D011115:Polyneuropathies / Q000150:complications*
chemical_list: D013006:Growth Hormone