PMC4434197_01
Prenatal ultrasonographic foetal heart anomalies detected at 19 ((a) ostium primum ASD; (b) perimembranous VSD) and 28 ((c)-(d) agenesis of the venous duct) weeks of pregnancy.
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In addition, agenesis of venous duct, resulting in an abnormal drainage of the umbilical vein into the foetal venous circulation (Figures 1(c) and 1(d)), and a worsened heart function with cardiomegaly were found.
Bilateral cleft lip at 2D (a) and 3D (b) prenatal ultrasonographic scan at 19 and 28 weeks of pregnancy, respectively.
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US follow-up at 28-week gestation confirmed bilateral cleft lip (Figure 2(b)), the slight hypertelorism, and bilateral pyelectasis.
PMC4434197_02
Prenatal ultrasonographic foetal heart anomalies detected at 19 ((a) ostium primum ASD; (b) perimembranous VSD) and 28 ((c)-(d) agenesis of the venous duct) weeks of pregnancy.
CRIOG2015-830108.001.jpg
PMC4434197_02_CRIOG2015-830108.001.jpg
fig1
In addition, agenesis of venous duct, resulting in an abnormal drainage of the umbilical vein into the foetal venous circulation (Figures 1(c) and 1(d)), and a worsened heart function with cardiomegaly were found.
Bilateral cleft lip at 2D (a) and 3D (b) prenatal ultrasonographic scan at 19 and 28 weeks of pregnancy, respectively.
CRIOG2015-830108.002.jpg
PMC4434197_02_CRIOG2015-830108.002.jpg
fig2
US follow-up at 28-week gestation confirmed bilateral cleft lip (Figure 2(b)), the slight hypertelorism, and bilateral pyelectasis.
Phenotypical features of the affected newborn included a broad nasal bridge (a) and hypertelorism bilateral cleft lip and palate (b).
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fig3
The main abnormalities occurred along the body midline, including hypertelorism, cleft lip and palate, and hypospadia (Figure 3).
Pedigree of family in present study. Squares and circles represent males and females, respectively. Blackened symbols indicate individuals with X-linked Opitz syndrome confirmed by MID1 mutation analysis. Gray-coloured symbols indicate individuals with a suspected mild form of X-linked Opitz syndrome, not confirmed by MID1 mutation analysis. Small black dots within the circle indicate carrier state confirmed by MID1 mutation analysis. Small gray dots within the circle indicate carrier state not confirmed by MID1 mutation analysis.
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Genetic testing was not available for the maternal nephew nor for the maternal grandmother (Figure 4).