Article
Further delineation of the Beemer-Langer syndrome using concordance rates in affected sibs.
American journal of medical genetics - 1 May 1994
Lurie I W
Abstract excerpt
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...
Topics
- Brain
- Family Health
- Genes, Recessive
- Humans
- Phenotype
- Short Rib-Polydactyly Syndrome