Fig. 1

Clinical features of the proband. a Narrow forehead, bilateral frontoparietal hypertrichosis, hypertelorism, sparse eyebrows, down slanting palpebral fissures, sparse short eyelashes, smooth filtrum, thin upper lip, and telethelia. b Brachycephaly, depressed nasal root, broad nasal bridge, bulbous nasal tip, prominent colummela, broad nasal ala, and large ears rotated backwards. c High arched palate. d Hypertrichosis. e Hypermelanosis in the right scapular region. f Clinodactyly and hypoplasia of the terminal phalanx of the fifth finger, broad thumb, and deep creases on right hand