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J Med Genet 38:674-679 doi:10.1136/jmg.38.10.674
  • Original article

An epidemiological study of Wolf-Hirschhorn syndrome: life expectancy and cause of mortality

  1. N L Shannona,
  2. E L Maltbya,
  3. A S Rigbyb,
  4. O W J Quarrella
  1. aNorth Trent Genetics Service, Sheffield Children's Hospital, Western Bank, Sheffield S10 2TH, UK, bSheffield Children's Hospital, Sheffield, UK
  1. Dr Shannon, Clinical Genetics Unit, Birmingham Women's Hospital, Edgbaston, Birmingham B15 2TG, UKnora_shannon{at}postmaster.co.uk
  • Revised 19 July 2001
  • Accepted 20 July 2001

Abstract

OBJECTIVE Early research into Wolf-Hirschhorn syndrome (WHS) described a high mortality and no relationship between deletion size and phenotype. This may need to be revised in the light of improved cytogenetic resolution and medical care. We have collected epidemiological data to allow the calculation of birth incidence and mortality figures. In addition, we have investigated the possibility of a relationship between deletion size and mortality.

METHOD Information relating to past and present cases diagnosed in the UK was collected by multiple ascertainment.

RESULTS A total of 159 cases were collected. The status (alive or dead) was determined for 146, of whom 96 are alive, 37 had died, and 13 were detected on prenatal diagnostic tests. A minimum birth incidence of 1 in 95 896 was calculated. The crude infant mortality rate was 17% (23/132) and in the first two years of life the mortality rate was 21% (28/132). Cases with large de novo deletions (proximal to and including p15.2) were more likely to have died than those with smaller deletions (odds ratio=5.7, 95% CI=1.7-19.9) after adjusting for age. A comparison of survival curves for de novo deletions and translocations did not show a statistically significant difference (p=0.11). The median survival time for de novo deletions was 34+ years while for translocation cases it was 18+ years.

CONCLUSIONS The mortality rate is lower than previously reported. There is a statistically significant relationship between deletion size and overall risk of death in de novo deletion cases. The difference in survival curves between de novo deletions and translocations is not statistically significant.

Footnotes