title: The lymphatic phenotype in Turner syndrome: an evaluation of nineteen patients and literature review.
abstract: Turner syndrome is a complex disorder caused by an absent or abnormal sex chromosome. It affects 1/2000-1/3000 live-born females. Congenital lymphoedema of the hands, feet and neck region (present in over 60% of patients) is a common and key diagnostic indicator, although is poorly described in the literature. The aim of this study was to analyse the medical records of a cohort of 19 Turner syndrome patients attending three specialist primary lymphoedema clinics, to elucidate the key features of the lymphatic phenotype and provide vital insights into its diagnosis, natural history and management. The majority of patients presented at birth with four-limb lymphoedema, which often resolved in early childhood, but frequently recurred in later life. The swelling was confined to the legs and hands with no facial or genital swelling. There was only one case of suspected systemic involvement (intestinal lymphangiectasia). The lymphoscintigraphy results suggest that the lymphatic phenotype of Turner syndrome may be due to a failure of initial lymphatic (capillary) function.
authors: South West Thames Regional Genetics Service, St George's Healthcare NHS Trust, London, UK.
authors: Giles
authors: G
authors: Atton
authors: Department of Dermatology, St. George's Hospital NHS Trust, London, UK.
authors: Kristiana
authors: K
authors: Gordon
authors: South West Thames Regional Genetics Service, St George's Healthcare NHS Trust, London, UK.|Department of Dermatology, St. George's Hospital NHS Trust, London, UK.
authors: Glen
authors: G
authors: Brice
authors: Lymphoedema Clinic, Derby Hospitals Foundation NHS Trust, Derby, UK.
authors: Vaughan
authors: V
authors: Keeley
authors: Lymphoedema Clinic, Derby Hospitals Foundation NHS Trust, Derby, UK.
authors: Katie
authors: K
authors: Riches
authors: Lymphovascular Research Unit, Division of Cardiovascular and Cell Sciences, St George's, University of London, London, UK.
authors: Pia
authors: P
authors: Ostergaard
authors: Lymphovascular Research Unit, Division of Cardiovascular and Cell Sciences, St George's, University of London, London, UK.
authors: Peter
authors: P
authors: Mortimer
authors: South West Thames Regional Genetics Service, St George's Healthcare NHS Trust, London, UK.
authors: Sahar
authors: S
authors: Mansour
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004487:Edema / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D008208:Lymphatic System / Q000473:pathology*; D008875:Middle Aged; D010641:Phenotype; D014424:Turner Syndrome / Q000175:diagnosis* / Q000235:genetics