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. 2013 Dec 1;188(11):1373–1376. doi: 10.1164/rccm.201306-1059LE

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Published 2013 by the American Thoracic Society

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Figure 1. — (a) The percentage of probands exhibiting different combinations of scoliosis, mitral valve prolapse (MVP), and pectus excavatum (PE) is shown. The largest proportions of probands exhibited either only scoliosis (45%) or none of the pertinent traits (39%). Combinations of traits included 11 patients (10%) with both scoliosis and MVP, 2 patients (1.8%) with both scoliosis and PE, and 1 patient (0.92%) with all three traits. (b) The percentage of probands reporting pertinent characteristics in one or more of their relatives is shown, with the distribution of the number of affected relatives per family shown in white (1 affected relative), diagonal stripes (2 affected relatives), and cross-hatch (≥3 affected relatives). Of 109 probands, 14 (12.8%) reported at least 1 relative with PNTM, with 1 individual reporting having 3 affected relatives. Twelve (11.0%) reported at least 1 relative with bronchiectasis, with 1 individual reporting having 4 affected relatives. Twenty-one (19.2%) reported at least 1 relative with scoliosis, with 1 individual reporting having 10 affected relatives. Seven (6.4%) reported at least 1 relative with MVP, with 3 individuals reporting having 3 affected relatives each. Six (5.5%) reported at least 1 relative with PE, with 1 individual reporting having 5 affected relatives.