Variable expression of rib, pectus, and scapular anomalies with Robin-type cleft palate in a 5-generation family: a new syndrome?

Am J Med Genet. 1997 Dec 19;73(3):247-50.

Abstract

We report on a 5-generation family with multiple musculoskeletal anomalies, including: Robin-type cleft palate, rib "dysplasia," scapular hypoplasia, and pectus excavatum. Robin-type clefts are known to be associated with various skeletal malformations; however, most of these include limb anomalies which are not present in this family. To our knowledge, there are no reports of similar conditions in the literature. The transmission through 5 generations and the presence of male-to-male transmission are consistent with autosomal-dominant transmission of a trait with variable expressivity.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Cleft Palate / genetics*
  • Female
  • Funnel Chest / genetics*
  • Genes, Dominant
  • Humans
  • Infant, Newborn
  • Male
  • Middle Aged
  • Pedigree
  • Pierre Robin Syndrome / genetics*
  • Ribs / abnormalities*
  • Scapula / abnormalities*
  • Syndrome