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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: Targeted next-generation sequencing for detection of PIK3CA mutations in archival tissues from patients with Klippel–Trenaunay syndrome in an Asian population

Fig. 1

Clinical photographs (upper) and short-tau inversion recovery or fat-suppressed T2-weighted magnetic resonance images (lower) of the patients with Klippel–Trenaunay syndrome with detected or undetected PIK3CA variants. Various clinical manifestations were observed, including geographic capillary malformations (a, c-g, i, l), lower limb discrepancy in terms of length (c, d, f, g, i, l, m), and macrodactyly (a, c, d, f, l). Magnetic resonance images are axial views at the arrowhead position in each clinical photograph with the lesions of high signal intensity

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172