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Familial Klippel-Trenaunay syndrome: a case report
32
Citations
7
References
1995
Year
Down SyndromeDevelopmental AnomalyMendelian DisorderFamilial OccurrenceGenetic DisorderMedicineGenetic EpidemiologyPediatricsCase SeriesKlippel-trenaunay SyndromeNeuropathologyRelated Family MembersClinical GeneticsCase Report
We present a case of familial occurrence of Klippel-Trenaunay syndrome (thought to be the first such reported in a family from the UK), and the results of an investigation into associated abnormalities in related family members. The findings are compatible with recent suggestions that the syndrome may be inherited, and that isolated naevi flammei may, at least in some instances, have a similar genetic basis, possibly representing a forme fruste of the syndrome.
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