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Ocular features in a patient presenting with a rare combination of multiple phakomatoses.

Vijayalakshmi A SenthilkumarPiyush KohliChitaranjan MishraKavitha Mamchisetti
Published in: BMJ case reports (2022)
Phakomatoses are a group of congenital disorders characterised by hamartomatous lesions of the skin as well as the central and peripheral nervous systems. The presence of naevus flammeus or port-wine stain is a characteristic feature of many such disorders including Sturge-Weber syndrome (SWS), Klippel-Trenaunay syndrome (KTS) and Phakomatosis pigmentovascularis (PPV).We describe the ocular findings in a patient with coexisting PPV, SWS and KTS.
Keyphrases
  • case report
  • machine learning
  • deep learning
  • soft tissue
  • minimally invasive
  • neural network