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Reduction of the genetic interval for lymphoedema-distichiasis to below 2 Mb
  1. R BELL*,
  2. G BRICE,
  3. A H CHILD,
  4. V A MURDAY*,
  5. S MANSOUR*,
  6. C J SANDY,
  7. J R O COLLIN,
  8. P MORTIMER§,
  9. D F CALLEN,
  10. K BURNAND**,
  11. S JEFFERY*
  1. *Medical Genetics Unit, St George's Hospital Medical School, Cranmer Terrace, London SW17 0RE, UK
  2. †Department of Cardiological Sciences, St George's Hospital Medical School, London SW17 0RE, UK
  3. ‡Moorfields Eye Hospital, London, UK
  4. §Department of Dermatology, St George's Medical School, London SW17 0RE, UK
  5. ¶Department of Cytogenetics and Molecular Genetics, Women and Children's Hospital, North Adelaide, South Australia
  6. **Department of Academic Surgery, St Thomas's Hospital, UMDS, London, UK
  1. Dr Jeffery, sggt100{at}sghms.ac.uk

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Editor—Primary lymphoedema (MIM 153200) is a chronic tissue swelling, most frequently of the lower limbs, which occurs as a consequence of a failure of lymph drainage.1 It arises from an intrinsic abnormality of the lymphatic system and generally shows an autosomal dominant pattern of inheritance with reduced penetrance, variable expression, and variable age of onset.2 There is a strong genetic input into primary lymphoedema, with 35% of all patients showing a positive family history.3 4 The swelling can be present at birth, as in Milroy disease, but more commonly it becomes clinically apparent during puberty, which is known as Meige disease.5-7

A variant of pubertal onset lymphoedema is lymphoedema-distichiasis (LD) (MIM 153400). This syndrome is a rare form of primary lymphoedema which is associated with distichiasis, a congenital anomaly in which aberrant eyelashes arise inappropriately from the site of the meibomian gland openings.4 8 The disease shows an autosomal dominant …

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