Brachmann-de Lange syndrome (BDLS) with asymmetry and skin pigmentary anomalies: a result of mosaicism for a putative bdls gene mutation?

摘要: Brachmann-de Lange syndrome (BDLS, OMIM 122470) is a rare malformation characterized by mental retardation, short stature, limb abnormalities, and distinctive craniofacial appearance. There wide clinical variability mildly affected patients are common. The genetic basis of BDLS the reasons for its phenotypical still unknown. We report on patient with mild unusual findings asymmetric growth one body half irregularly shaped pigmentary anomalies skin. These two traits have not been previously described in but associated phenomena mosaicism other conditions. suggest that this patient's phenotype could be result mutation or submicroscopic deletion affecting several genes responsible BDLS.