Further delineation of a new (Van Den Ende-Gupta) syndrome of blepharophimosis, contractural arachnodactyly, and characteristic face

We report on 2 unrelated Indian girls with blepharophimosis, arachnodactyly, digital contractures which improved spontaneously, elbow deformity, beaked nose, everted lips, and large ears, findings similar to those in 2 cases reported previously by Van Den Ende et al. [1992, Am J Med Genet 42:467-469] and Gupta et al. [1995, J Med Genet 32:809-812], thus delineating a new syndrome of contractural arachnodactyly with characteristic facial anomalies.