Further delineation of the Beemer-Langer syndrome using concordance rates in affected sibs

Am J Med Genet. 1994 May 1;50(4):313-7. doi: 10.1002/ajmg.1320500403.

Abstract

Six familial cases of the Beemer-Langer syndrome (BLS) were analyzed to further elucidate the spectrum and frequency of anomalies observed in this disorder. Preaxial polydactyly was found in 3/6 affected sibs, and, therefore, its frequency previously may have been underestimated. Some patients, described as infants affected with the Majewski syndrome (MS) or "atypical" short rib-polydactyly conditions, may indeed have BLS. A high frequency of brain defects (16/26) and cleft tongue, oral frenula, and/or natal teeth (13/29) widens the list of typical findings in this syndrome. The specific type of tibial defect seems to be the most important discrimination of the MS and the BLS.

Publication types

  • Review

MeSH terms

  • Brain / abnormalities
  • Family Health
  • Genes, Recessive
  • Humans
  • Phenotype
  • Short Rib-Polydactyly Syndrome / genetics*