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I was fascinated by the recent article by Catherine Mark et al.
The clinical approach suggested seems reasonable, however, this will miss a lot more clinical conditions that are/may be associated with hemihypertrophy.1 The list produced in figure 2 is too restrictive.
The presence of cutaneous malformations and macrocephaly should be sought clinically. These may point towards PIK3CA-Related Segmental Overgrowth.2 3 The UK Genetic Testing Network do offer a gene panel for diagnosis. On occasions because of mosaicism, tissue biopsy may be necessary to clinch the diagnosis.
New targeted treatment options include the use of mTOR inhibitors like Sirolimus or Everolimus.4