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; large ears; findings similar to those in 2 cases reported previously by Van Den Ende et al. [99; Am J Med Genet 4:467-469]; Gupta et al. [995; J Med Genet :809-8]; thus delineating a new syndrome of contractural arachnodactyly with characteristic facial anomalies