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Cardiac involvement in geleophysic dysplasia in three siblings of a Saudi family

Published online by Cambridge University Press:  06 November 2013

Motea E. Elhoury ,
Eissa Faqeih ,
Abdulrahman S. Almoukirish  and
Mohammed O. Galal
Motea E. Elhoury*
Affiliation:
Department of Pediatric Cardiology, Prince Salman Heart Center, Riyadh, Saudi Arabia
Eissa Faqeih
Affiliation:
Department of Medical Genetics, Children Hospital, King Fahad Medical City, Riyadh, Saudi Arabia
Abdulrahman S. Almoukirish
Affiliation:
Department of Pediatric Cardiology, Prince Salman Heart Center, Riyadh, Saudi Arabia
Mohammed O. Galal
Affiliation:
Department of Pediatric Cardiology, Prince Salman Heart Center, Riyadh, Saudi Arabia Childrenʼs Hospital, University of Essen, Essen, Germany
*
Correspondence to: M. E. Elhoury, MRCPCH, Department of Pediatric Cardiology, Prince Salman Heart Center, King Fahad Medical City, PO Box 59046, Riyadh 11525, Saudi Arabia. Tel: +966112889999 ext 12099; Fax: +966112889999 ext 12100; E-mail: elhourymotea@gmail.com
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Abstract

Geleophysic dysplasia is an extremely rare acromelic skeletal dysplasia resembling lysosomal storage disease. It is characterised by characteristic facial phenotype, short stature, micromelia, joint contracture, and early cardiac valvular involvement. It has been described worldwide in <40 patients. Herein, we describe the cardiac features in three Saudi sisters with proved autosomal recessive geleophysic dysplasia who showed different levels of severity of their cardiac involvement.

Keywords

Geleophysic dysplasiadysmorphic featuresvalvular heart disease
Type
Original Articles
Information
Cardiology in the Young , Volume 25 , Issue 1 , January 2015 , pp. 81 - 86
Copyright
Copyright #x00A9; Cambridge University Press 2013 

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