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1: Australas Radiol. 2006 Dec;50(6):534-8.Click here to read Links

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

Marik I, Kuklik M, Zemkowa D, Kozlowski K.

Ambulant Centre for Defects of Locomotor Apparatus, Paediatric Clinic, University Motol Hospital, Prague, Czech Republic.

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.

PMID: 17107523 [PubMed - indexed for MEDLINE]