Phenotype details |
see paper; ..., short stature, mesomelic limb shortening, brachydactyly, large anterior fontanel, hypertelorism, prominent eyes, bilateral epicanthic folds, wide downâslanting palpebral fissures, flat midface, short upturned nose, broad nasal bridge, anteverted nares, long philtrum, gingival hyperplasia, short oral frenulum, posteriorly rotated ears, micrognathia., genital hypoplasia, sacral dimple, hairy sacral patch; radiography short long bones |