[A new autosomal-recessive hereditary syndrome. Multiple peripheral pulmonary stenosis, brachytelephalangia, inner-ear deafness, ossification or calcification of cartilages].
D000328:Adult; D001299:Audiometry; D002114:Calcinosis / Q000209:etiology / Q000235:genetics*; D006328:Cardiac Catheterization; D002357:Cartilage Diseases / Q000209:etiology / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D000013:Congenital Abnormalities / Q000235:genetics; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006311:Hearing Disorders / Q000209:etiology / Q000235:genetics*; D006334:Heart Function Tests; D006801:Humans; D007759:Labyrinth Diseases / Q000235:genetics; D008297:Male; D009666:Nose; D010375:Pedigree; D011666:Pulmonary Valve Stenosis / Q000150:complications / Q000209:etiology / Q000235:genetics*
Ein neues autosomal-rezessiv vererbbares Syndrome. Multiple periphere Pulmonalstenosen, Brachytelephalangie, Innenohrschwerhörigkeit, Knorpelverknöcherungen bzw. -verkalkungen.