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Fig. 1 | Hereditas

Fig. 1

From: Complex vascular anomalies and tissue overgrowth of limbs associated with increased skin temperature and peripheral venous dilatation: parks weber syndrome or PROS?

Fig. 1

Clinical manifestation of the patient. a: Extensive, bilaterally and segmentally distributed capillary malformation on both the lower and upper limbs, chest and back. b: Bilateral hypertrophy associated with longitudinal growth, peripheral venous dilatation and increased skin temperature of the lower extremities. c-d: MR imaging showed diffuse tissue hypertrophy (1c) and multiple venous dilation (1d, arrows) of soft tissue and muscle of bilateral lower limbs. e: Intraarterial digital subtraction angiography (IADSA) showed no obvious AVM/AVF. f: Intravenous DSA (IVDSA) showed venous dilation of the soft tissue and muscle. g: IGV visualization of NGS data for the tissue sample with somatic mutation in PIK3CA (p.Cys378Arg; c.1132 T > C). h: Sanger sequence of somatic mutation in PIK3CA (p.Cys378Arg; c.1132 T > C)

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Hereditas

ISSN: 1601-5223

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