Three-generation dominant transmission of the Silver-Russell syndrome

Am J Med Genet. 1990 Feb;35(2):245-50. doi: 10.1002/ajmg.1320350220.

Abstract

We report on 7 patients with the Silver-Russell syndrome (SRS) in two 3-generation families. Three patients in each of the families had an undergrowth of the left side of the body when compared with the normal right side. The clinical courses were mild as compared to the severity sometimes described in sporadic cases. These patients and a review of 190 SRS cases from the literature showed that there were 23 families in which 38 patients had completely expressed SRS. In 17 of the families, multiple maternal relatives had complete or partial expressions of the SRS. Most SRS patients have been reported to occur sporadically; however, of the 197 propositi analyzed, 19% had more than one affected individual in a family and several different modes of inheritance could have been responsible. Two families (8.7%) had spontaneous dominant mutations (twins) and possible autosomal recessive transmission was present in 4 families (17.4%). Because no male-to-male transmission has yet been documented in the 21 families in the literature and the two families reported here, X-linked dominant inheritance is a possibility in 17 families (74%). Thus, although sporadic occurrences and genetic heterogeneity appear to be involved in the SRS, dominant inheritance may be a major causal factor.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Body Height / genetics*
  • Child, Preschool
  • Facial Expression
  • Female
  • Fetal Growth Retardation / genetics*
  • Genes, Dominant / physiology
  • Head / abnormalities*
  • Humans
  • Infant
  • Limb Deformities, Congenital*
  • Male
  • Pedigree
  • Pregnancy
  • Syndrome