Fig. 1

Clinical and genetic findings. a A pedigree of the family. Mother (II4), father (II3), older son (III1), younger son (III2). The mother (II4), who was the proband, had mild ID and was 154 cm (6 cm shorter than the mean height (160 cm) of the female family members) at 31 years of age. III1 had mild ID and was 141.5 cm tall (− 2.83 SD) at 13.5 years of age. III2 had normal intelligence and was 91 cm tall (− 1.53 SDs) at 3 years of age. b The partial karyotype and corresponding idiogram of chromosome 11 at the levels of the 550 bands. c III1’s bone age as determined by left wrist X-ray was 13.5 years, matching his actual age. d. Craniofacial features of II4, including low anterior hairline, hypertelorism, depressed nasal bridge, long philtrum, and slightly upturned corners of mouth. e. Craniofacial anomalies of III1, including low anterior hairline, thick eyebrows, long eyelashes, hypertelorism, long philtrum, risus sardonicus, upturned corners of mouth, thick lower lip vermilion, and carious teeth