Fig. 1
Facial and whole body photographs of two affected children in our study. a, b Proband 1 at age of 4Â years and 8Â months has cupped ears as well as a unilateral ear pit in her right ear. c Proband 1 at age of 4Â years and 8Â months shows similar length with her younger brother, proband 2 at 2Â years and 2Â months. d, e Proband 2 at age of 2Â years and 2Â months has mild craniofacial dysmorphisms with bilateral epicanthal folds and periorbital swelling