Further delineation of the Beemer-Langer syndrome using concordance rates in affected sibs.
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.
Lurie
I W
IW
Department of Pediatrics, University of Maryland at Baltimore, School of Medicine.
D001921:Brain / Q000002:abnormalities; D005192:Family Health; D005808:Genes, Recessive; D006801:Humans; D010641:Phenotype; D012779:Short Rib-Polydactyly Syndrome / Q000235:genetics*