Fig. 1From: A de novo KMT2D mutation in a girl with Kabuki syndrome associated with endocrine symptoms: a case reportThe patient shows the typical facial features of Kabuki syndrome, such as long palpebral fissures, everted lower eyelids, arched eyebrows, a broad nasal root, thin upper and full lower lips, and brachydactyly in both hands and feetBack to article page