Figure 1From: Whole exome sequencing confirms the clinical diagnosis of Marfan syndrome combined with X-linked hypophosphatemiaClinical presentation for family XLH01. a Medial bowing in the patients XLH01-I:2, XLH01-II:1 and XLH01-II:2. b, c Anterior segment photography indicates dislocation of lens toward nasal superior side in both eyes. d–i Radiographic findings reveal dolichostenomelia in the digits of patient XLH01-II:2 (h), but not in patient XLH01-I:2 (d) or XLH01-II:1 (f). Widening of both proximal and distal tibial metaphysis in patients XLH01-II:1 (f, g) and XLH01-II:2 (h, i) are shown. Medial bowing is found in all three patients (e, g, i).Back to article page