PMC3251605_01
Clinical and radiological data of the patients P1 and P2.. (A) Pedigree of the family. Squares: male subjects; circles: female subjects; closed symbols: affected individuals; open symbols: unaffected individuals; double horizontal line: consanguineous marriage. (B) Both patients suffer from chronic nasal obstruction, with enlarged noses. (C-E) Clinical phenotypes of P1. (C) CT scan of the sinuses showing a nasal mass. (D) Mild finger contractures with campodactyly. (E) Lytic lesions of both patellae. (F-H) Clinical phenotype of P2. (F) CT scan of the sinuses showing a nasal mass. (G) Abdominal CT scan with retroperitoneal fibrosis. (H) No hand abnormalities.
pone.0029708.g001.jpg
PMC3251605_01_pone.0029708.g001.jpg
pone-0029708-g001
The older brother, P1 (Figure 1A, B), is the first child of first-cousin parents of Moroccan origin. At the age of 14 years, nasal obstruction occurred, with infiltrates found in both the nose and the right maxillary sinus (Figure 1C). Finally, P1 developed a very mild contracture of the fingers and toes at the age of 12 years (Figure 1D). He has required no further surgery since the age of 18 years, but still suffers from chronic nasal obstruction and an enlarged nose due to the presence of a nasal mass (Figure 1B). X-ray revealed lytic bone lesions of both patellas (Figure 1E).