Hajdu-Cheney syndrome: Report of a family and a short literature review

Summary We report three members of an Armenian family with Hajdu‐Cheney syndrome. The history suggested that five other members of the family were also probably affected. This disorder is important for the radiologist because distinctive radiographic findings make the diagnosis possible before clini...

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Bibliographic Details
Published in:Australasian radiology 2006-12, Vol.50 (6), p.534-538
Main Authors: Marik, I, Kuklik, M, Zemkowa, D, Kozlowski, K
Format: Article
Language:English
Subjects:
acroosteolysis
Adult
Child
cranial suture
Female
Hajdu-Cheney syndrome
Hajdu-Cheney Syndrome - diagnostic imaging
Hajdu-Cheney Syndrome - genetics
Humans
Male
Pedigree
Radiography
Wormian bone
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Summary:Summary We report three members of an Armenian family with Hajdu‐Cheney syndrome. The history suggested that five other members of the family were also probably affected. This disorder is important for the radiologist because distinctive radiographic findings make the diagnosis possible before clinical signs and symptoms are fully developed. Additionally, radiographic examination is essential in all patients suspected of Hajdu‐Cheney syndrome for confirmation of the clinical diagnosis. Radiographic examination also detects complications of the syndrome not evident on clinical examination.
ISSN:0004-8461
1440-1673
DOI:10.1111/j.1440-1673.2006.01616.x