title: Coffin-Lowry syndrome: a 20-year follow-up and review of long-term outcomes.
abstract: The Coffin-Lowry syndrome has become well established since the first report of affected patients by Coffin et al. [1966: Am J Dis Child 112:205-213]. Since that time over a hundred cases have been reported and the responsible gene has been identified. However, there remains a paucity of long-term follow-up information on older patients with which to counsel affected families about prognosis. There is also much to be learned about genotype-phenotype correlations. In 1982 we reported 12 patients (including carrier mothers) from eight families, one of whom had died about the time the paper was written. Recently, we have been able to obtain follow-up information on six of the affected patients and one of the carrier mothers. A number of important complications have occurred, including premature death, loss of ambulation, and quadriplegia. This paper updates the medical histories of our patients and summarizes the clinically important complications that have been reported in patients with Coffin-Lowry syndrome. There are few data on patients over the age of 30, and much more longer term follow-up is required.
authors.affiliation: Eastern Ontario Genetics Program, Children's Hospital of Eastern Ontario, Ottawa, Canada. heddalasdair@aol.com
authors.forename: Alasdair G W
authors.initials: AG
authors.lastname: Hunter
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D038921:Coffin-Lowry Syndrome / Q000235:genetics / Q000503:physiopathology*; D005260:Female; D006801:Humans; D008297:Male