title: Hajdu-Cheney syndrome with severe dural ectasia.
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.
authors.affiliation: Väestöliitto, The Family Federation of Finland, Department of Medical Genetics, Helsinki, Finland. kristiina.avela@vaestoliitto.fi
authors.forename: Kristiina
authors.initials: K
authors.lastname: Avela
authors.forename: Leena
authors.initials: L
authors.lastname: Valanne
authors.forename: Ilkka
authors.initials: I
authors.lastname: Helenius
authors.forename: Outi
authors.initials: O
authors.lastname: Mäkitie
mesh_terms: D002648:Child; D002675:Child, Preschool; D004108:Dilatation, Pathologic / Q000150:complications* / Q000000981:diagnostic imaging; D005260:Female; D005528:Foot / Q000000981:diagnostic imaging; D031845:Hajdu-Cheney Syndrome / Q000150:complications* / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008159:Lumbar Vertebrae / Q000002:abnormalities* / Q000000981:diagnostic imaging; D008297:Male; D011247:Pregnancy; D011859:Radiography; D013909:Thorax / Q000002:abnormalities