PMC5677976_01
Pedigree of family and facial photographs of proband (II-1). The parents provided written informed consent for publication of photographs. Note distinctive facial features including hooded eyelids a, long and smooth philtrum with a thin upper lip a and c, low-set and posteriorly rotated ears b and d with preauricular pits and forward facing earlobes
41525_2017_31_Fig1_HTML.jpg
PMC5677976_04_41525_2017_31_Fig1_HTML.jpg
Fig1
The mother of the proband (I-2 in Fig. 1) is a 44-year-old woman who denies medical problems. The sisters of the proband (II-2 and II-3 in Fig. 1) are monozygotic twins.
PMC5677976_02
PMC5677976_03
Pedigree of family and facial photographs of proband (II-1). The parents provided written informed consent for publication of photographs. Note distinctive facial features including hooded eyelids a, long and smooth philtrum with a thin upper lip a and c, low-set and posteriorly rotated ears b and d with preauricular pits and forward facing earlobes
41525_2017_31_Fig1_HTML.jpg
PMC5677976_04_41525_2017_31_Fig1_HTML.jpg
Fig1
The mother of the proband (I-2 in Fig. 1) is a 44-year-old woman who denies medical problems. The sisters of the proband (II-2 and II-3 in Fig. 1) are monozygotic twins.
PMC5677976_04
Pedigree of family and facial photographs of proband (II-1). The parents provided written informed consent for publication of photographs. Note distinctive facial features including hooded eyelids a, long and smooth philtrum with a thin upper lip a and c, low-set and posteriorly rotated ears b and d with preauricular pits and forward facing earlobes
41525_2017_31_Fig1_HTML.jpg
PMC5677976_04_41525_2017_31_Fig1_HTML.jpg
Fig1
The mother of the proband (I-2 in Fig. 1) is a 44-year-old woman who denies medical problems. The sisters of the proband (II-2 and II-3 in Fig. 1) are monozygotic twins.