期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 152A, 期 9, 页码 2287-2296出版社
WILEY
DOI: 10.1002/ajmg.a.33445
关键词
primary lymphedema; myelodysplasia; acute myeloid leukaemia; monosomy 7
资金
- British Heart Foundation
- British Skin Foundation
- British Heart Foundation [PG/10/58/28477] Funding Source: researchfish
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. (C) 2010 Wiley-Liss, Inc.
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