1/2. hajdu-cheney syndrome with growth hormone deficiency and neuropathy.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.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/2. Hajdu--Cheney syndrome: evolution of phenotype and clinical problems.hajdu-cheney syndrome is a rare, autosomal dominant disorder comprising acroosteolysis of the distal phalanges with associated digital abnormalities, distinctive craniofacial and skull changes, dental anomalies, and proportionate short stature. The clinical and radiologic characteristics of hajdu-cheney syndrome develop and progress with age. Many of the medical problems that arise in this syndrome cluster in specific age ranges. case reports of six affected individuals in two additional families and a summary of the English literature is presented with emphasis on the changing physical findings and medical sequelae over time.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |