title: Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases.
abstract: 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, 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.
authors.affiliation: SW Thames Regional Genetics Service, St. George's, University of London, London, UK. smansour@sgul.ac.uk
authors.forename: Sahar
authors.initials: S
authors.lastname: Mansour
authors.forename: Fiona
authors.initials: F
authors.lastname: Connell
authors.forename: Colin
authors.initials: C
authors.lastname: Steward
authors.forename: Pia
authors.initials: P
authors.lastname: Ostergaard
authors.forename: Glen
authors.initials: G
authors.lastname: Brice
authors.forename: Sarah
authors.initials: S
authors.lastname: Smithson
authors.forename: Peter
authors.initials: P
authors.lastname: Lunt
authors.forename: Steve
authors.initials: S
authors.lastname: Jeffery
authors.forename: Inderjeet
authors.initials: I
authors.lastname: Dokal
authors.forename: Tom
authors.initials: T
authors.lastname: Vulliamy
authors.forename: Brenda
authors.initials: B
authors.lastname: Gibson
authors.forename: Shirley
authors.initials: S
authors.lastname: Hodgson
authors.forename: Sally
authors.initials: S
authors.lastname: Cottrell
authors.forename: Louise
authors.initials: L
authors.lastname: Kiely
authors.forename: Lorna
authors.initials: L
authors.lastname: Tinworth
authors.forename: Kamini
authors.initials: K
authors.lastname: Kalidas
authors.forename: Ghulam
authors.initials: G
authors.lastname: Mufti
authors.forename: Jackie
authors.initials: J
authors.lastname: Cornish
authors.forename: Russell
authors.initials: R
authors.lastname: Keenan
authors.forename: Peter
authors.initials: P
authors.lastname: Mortimer
authors.forename: Victoria
authors.initials: V
authors.lastname: Murday
mesh_terms: D000015:Abnormalities, Multiple; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002897:Chromosomes, Human, Pair 7; D005260:Female; D005835:Genitalia / Q000002:abnormalities; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D015470:Leukemia, Myeloid, Acute / Q000150:complications / Q000235:genetics; D038061:Lower Extremity Deformities, Congenital; D008209:Lymphedema / Q000150:complications* / Q000235:genetics; D008297:Male; D009006:Monosomy; D009190:Myelodysplastic Syndromes / Q000150:complications* / Q000235:genetics; D055815:Young Adult