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The lymphedema typically presents in one or both lower limbs, before the hematological abnormalities, with onset between infancy and puberty and frequently affecting the genitalia. The AML is often preceded by pancytopenia or myelodysplasia with a high incidence of monosomy 7 in the bone marrow (five propositi and two relatives). Associated anomalies included hypotelorism, epicanthic folds, long tapering fingers and\/or neck webbing (four patients), recurrent cellulitis in the affected limb (four patients), generalized warts (two patients), and congenital, high frequency sensorineural deafness (one patient). Children with lower limb and genital lymphedema should be screened for hematological abnormalities and immunodeficiency. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33445","type":"journal-article","created":{"date-parts":[[2010,9,4]],"date-time":"2010-09-04T04:09:52Z","timestamp":1283573392000},"page":"2287-2296","source":"Crossref","is-referenced-by-count":74,"title":["Emberger syndrome\u2014Primary lymphedema with myelodysplasia: Report of seven new 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