PMC3745879_01
(a) Proband with Peters' anomaly and facial dysmorphism. (b) Ultrasound showing, long philtrum, short nose and ventriculomegaly. (c) Fetus with facial dysmorphism. Note prominent forehead, hypertelorism, long philtrum, short nose, anteverted nostrils, and thin upper lip.
CRIM.GENETICS2013-364529.001.jpg
PMC3745879_01_CRIM.GENETICS2013-364529.001.jpg
fig1
He had a round face, long philtrum, short nose, and large cupid bow mouth along with brachydactyly and small terminal phalanges (Figure 1(a)). DNA was stored for subsequent molecular testing for B3GALTL gene. During the current pregnancy, a targeted high-resolution fetal ultrasound showed the presence of bilateral mild ventriculomegaly (Figure 1(b)), short long bones (all long bones below 5th centile), brachycephaly, single umbilical artery, long philtrum (Figure 1(b)), low set ears, and clinodactyly. Fetal examination confirmed the ultrasound findings but also revealed some additional findings such as the presence of prominent forehead, hypertelorism, thin upper lip, anteverted nostrils, brachydactyly (Figure 1(c)), and a caudal appendage. 
It shows electropherogram of father, mother, proband, and the fetus. Reference is the reference sequence of the B3GALTL gene. The region shown is the beginning of intron 8.
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PMC3745879_01_CRIM.GENETICS2013-364529.002.jpg
fig2
Both proband and the fetus had homozygous c.660+1G>A splice site mutation in intron 8 and the parents were heterozygous carriers for the same mutation (Figure 2).