Emberger Syndrome-Primary Lymphedema With Myelodysplasia: Report of Seven New Cases

作者：Mansour Sahar^*; Connell Fiona; Steward Colin; Ostergaard Pia; Brice Glen; Smithson Sarah; Lunt Peter; Jeffery Steve; Dokal Inderjeet; Vulliamy Tom; Gibson Brenda; Hodgson Shirley; Cottrell Sally; Kiely Louise; Tinworth Lorna; Kalidas Kamini; Mufti Ghulam; Cornish Jackie; Keenan Russell; Mortimer Peter; Murday Victoria

来源：American Journal of Medical Genetics, Part A, 2010, 152A(9): 2287-2296.

DOI：10.1002/ajmg.a.33445

• primary lymphedema
• myelodysplasia
• acute myeloid leukaemia
• monosomy 7

Four reports have been published on an association between acute myeloid leukaemia (AML) and primary lymphedema, with or without congenital deafness. We report seven new cases, including one extended family, confirming this entity as a genetic syndrome. 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, cpicanthic 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 immu-nodeficiency.

• 出版日期2010-9