| Literature DB >> 21337686 |
Kristiina Avela1, Leena Valanne, Ilkka Helenius, Outi Mäkitie.
Abstract
Hajdu-Cheney syndrome (HCS) is an autosomal dominant condition comprising osteolysis of the terminal phalanges, characteristic craniofacial abnormalities, dental anomalies, and proportionate short stature. The clinical and radiological findings develop and progress with age. Here, we report on a HCS patient with severe scoliosis and exceptionally massive dural ectasia. Congenital scoliosis and dural ectasia have not been reported previously in HCS.Entities:
Mesh:
Year: 2011 PMID: 21337686 DOI: 10.1002/ajmg.a.33510
Source DB: PubMed Journal: Am J Med Genet A ISSN: 1552-4825 Impact factor: 2.802