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suck abstract from ncbi


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pmid11701398      Eur+J+Dermatol 2001 ; 11 (6): 515-7
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  • Hypotrichosis, lymphedema of the legs and acral telangiectasias--new syndrome? #MMPMID11701398
  • Glade C; van Steensel MA; Steijlen PM
  • Eur J Dermatol 2001[Nov]; 11 (6): 515-7 PMID11701398show ga
  • We describe a girl of Turkish descent suffering from a peculiar combination of symptoms. The presenting complaint was bilateral lymphedema of the legs; additional symptoms include hypotrichosis, telangiectasias and angiomata limited to acral regions. We discuss the possibility that this girl suffers from Noonan/cardio-facio-cutaneous syndrome. We conclude that the combination of symptoms listed here probably represents a new syndrome for which we propose the name hypotrichosis-lymphedema-telangiectasia syndrome.
  • |Child[MESH]
  • |Consanguinity[MESH]
  • |Diagnosis, Differential[MESH]
  • |Female[MESH]
  • |Humans[MESH]
  • |Hypotrichosis/*diagnosis/genetics[MESH]
  • |Klippel-Trenaunay-Weber Syndrome/diagnosis[MESH]
  • |Leg[MESH]
  • |Lymphedema/*diagnosis/genetics[MESH]
  • |Noonan Syndrome/diagnosis[MESH]
  • |Pedigree[MESH]
  • |Syndrome[MESH]


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