title: Cardiac involvement in geleophysic dysplasia in three siblings of a Saudi family.
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.
authors.affiliation: 1Department of Pediatric Cardiology,Prince Salman Heart Center,Riyadh,Saudi Arabia.
authors.forename: Motea E
authors.initials: ME
authors.lastname: Elhoury
authors.affiliation: 2Department of Medical Genetics,Children Hospital,King Fahad Medical City,Riyadh,Saudi Arabia.
authors.forename: Eissa
authors.initials: E
authors.lastname: Faqeih
authors.affiliation: 1Department of Pediatric Cardiology,Prince Salman Heart Center,Riyadh,Saudi Arabia.
authors.forename: Abdulrahman S
authors.initials: AS
authors.lastname: Almoukirish
authors.affiliation: 1Department of Pediatric Cardiology,Prince Salman Heart Center,Riyadh,Saudi Arabia.
authors.forename: Mohammed O
authors.initials: MO
authors.lastname: Galal
mesh_terms: D000015:Abnormalities, Multiple; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging* / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D004452:Echocardiography / Q000379:methods*; D005260:Female; D006344:Heart Septal Defects, Atrial / Q000000981:diagnostic imaging* / Q000503:physiopathology; D006801:Humans; D007223:Infant; D017880:Limb Deformities, Congenital / Q000000981:diagnostic imaging* / Q000503:physiopathology; D008297:Male; D008944:Mitral Valve Insufficiency / Q000000981:diagnostic imaging* / Q000503:physiopathology; D010641:Phenotype; D012529:Saudi Arabia; D035781:Siblings; D014262:Tricuspid Valve Insufficiency / Q000000981:diagnostic imaging* / Q000503:physiopathology