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Hajdu–Cheney syndrome with severe dural ectasia
Author(s) -
Avela Kristiina,
Valanne Leena,
Helenius Ilkka,
Mäkitie Outi
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33510
Subject(s) - medicine , ectasia , scoliosis , craniofacial , phalanx , short stature , surgery , anatomy , pediatrics , psychiatry
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. © 2011 Wiley‐Liss, Inc.