PMC4404657_01
Available family members. A) Pedigree of the proband and her family; B) Proband (III-1) with telecanthus, bilateral epicanthal folds, wide mouth, and an apparently happy demeanor; hands with tapered fingers, abnormal creases and broad thumbs.
13039_2015_127_Fig1_HTML.jpg
PMC4404657_01_13039_2015_127_Fig1_HTML.jpg
Fig1
A 5-year-old Mexican girl, first child of a healthy nonconsanguineous couple was evaluated (Figure 1A). The patient exhibited slight brachycephaly, low anterior hair implantation, bushy eyebrows, bilateral epicanthal folds, telecanthus, slightly broad nasal bridge, prominent nose with a bulbous tip, short, broad and smooth philtrum, wide mouth, lips with an absent Cupid's bow, intact palate and uvula, normal pinnae, chest with widely spaced nipples, hands with tapered fingers, broad thumbs and broad 2nd fingers (Figure 1B).