Article
Cardiac involvement in geleophysic dysplasia in three siblings of a Saudi family.
Cardiology in the young - 1 Jan 2015
Elhoury Motea E, Faqeih Eissa, Almoukirish Abdulrahman S, Galal Mohammed O
Abstract excerpt
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...
Topics
- Abnormalities, Multiple
- Bone Diseases, Developmental
- Child
- Child, Preschool
- Echocardiography
- Female
- Heart Septal Defects, Atrial
- Humans
- Infant
- Limb Deformities, Congenital
- Male
- Mitral Valve Insufficiency
- Phenotype
- Saudi Arabia
- Siblings
- Tricuspid Valve Insufficiency