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.
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Acknowledgements
We extend our thanks to the patients and their families and the British Heart Foundation for funding the work of Dr Kristiana Gordon (FS/11/40/28739) and Dr Pia Ostergaard (PG/10/58/28477).
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Atton, G., Gordon, K., Brice, G. et al. The lymphatic phenotype in Turner syndrome: an evaluation of nineteen patients and literature review. Eur J Hum Genet 23, 1634–1639 (2015). https://doi.org/10.1038/ejhg.2015.41
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DOI: https://doi.org/10.1038/ejhg.2015.41
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