Severe valvar aortic stenosis in a child with familial hypercholesterolaemia

A 2 year old male child, born of second degree consanguineous marriage, presented with multiple, nodular, raised, firm, yellowish cutaneous swellings, each 1-2 cm in size, over the knees, elbows, ankles, buttocks, and the extensor aspect of wrist and hands (upper panels).

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Bibliographische Detailangaben
Veröffentlicht in:	Heart (British Cardiac Society) 2004-03, Vol.90 (3), p.238-238
Hauptverfasser:	Harikrishnan, S, Byju, C K, Tharakan, J
Format:	Artikel
Sprache:	eng
Schlagworte:	Aortic Valve Stenosis - diagnostic imaging Aortic Valve Stenosis - etiology Biological and medical sciences Cardiology. Vascular system Child, Preschool Disorders of blood lipids. Hyperlipoproteinemia Echocardiography Endocardial and cardiac valvular diseases Heart Heart attacks Humans Hyperlipoproteinemia Type II - complications Images in cardiology Low density lipoprotein Male Medical sciences Metabolic diseases Miscellanea
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Beschreibung
Zusammenfassung:	A 2 year old male child, born of second degree consanguineous marriage, presented with multiple, nodular, raised, firm, yellowish cutaneous swellings, each 1-2 cm in size, over the knees, elbows, ankles, buttocks, and the extensor aspect of wrist and hands (upper panels).
ISSN:	1355-6037 1468-201X
DOI:	10.1136/hrt.2003.018564