[Subvalvular aortic stenosis, dysmorphic familial syndrome and peripheral muscular disease].
Two related cases are reported, those of two sisters aged 7 and 13, who had an aortic subvalvular stenosis in the form of a fibro-muscular channel, associated with mitral incompetence, a triangular facies with a pointed chin, pinched lips, a divergent squint, hypertelorism, a mask-like face, normal intelligence, and a peripheral muscular disorder with arthrogriposis. The description of such a combination of malformations is original, and this is discussed.
D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D000844:Ankylosis / Q000235:genetics; D006332:Cardiomegaly / Q000235:genetics; D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D005260:Female; D006801:Humans; D006972:Hypertelorism / Q000175:diagnosis / Q000235:genetics; D007592:Joint Diseases / Q000235:genetics; D008944:Mitral Valve Insufficiency / Q000175:diagnosis / Q000235:genetics; D009468:Neuromuscular Diseases / Q000235:genetics*; D063173:Retrognathia / Q000235:genetics; D013285:Strabismus / Q000235:genetics
Rétrécissement aortique sous-valvulaire, syndrome familial dysmorphique et maladie musculaire périphérique