case_images: PMC6413401_01
case_images: Antenatal ultrasound showed left-sided pelvic-ureteral junction stenosis.
case_images: CRIM2019-4561761.001.jpg
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case_images: fig1
case_images: The mother at 27 weeks gestational age did intrauterine ultrasound and showed severe left-sided pelvic-ureteral junction (PUJ) stenosis (Figure 1).
case_images: Trigonocephaly, hypotelorism, depressed nose bridge, and long philtrum.
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case_images: fig2
case_images: The baby was born at term by normal vaginal delivery, and at birth, he presented with dysmorphic features in the form of microcephaly (head circumference 30 cm, below 3rd percentile), trigonocephaly, hypotelorism, depressed nose bridge, long philtrum, and high arch palate (Figure 2).
case_images: PMC6413401_02
case_images: Abdominal CT showed left-sided pelvic-ureteral junction severe stenosis.
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case_images: fig3
case_images: Abdominal ultrasound and CT showed severe left-sided PUJ stenosis and right-sided hydronephrosis (Figure 3).
case_images: MCUG showed right-sided VUR grade III.
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case_images: fig4
case_images: MCUG showed right-sided vesicoureteral reflux (VUR) grade III (Figure 4).
case_images: CT showed metopic suture craniosynostosis.
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case_images: fig5
case_images: Brain CT showed normal brain and craniosynostosis of metopic suture (Figure 5).
case_images: Chest CT showed the patchy area of consolidation in the posterior segment of the lower lobe of the lung.
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case_images: fig6
case_images: Chest CT showed patchy area of consolidation in the posterior segment of the lower lobe of the left lung which was highly suggestive of sequestration (Figure 6).
case_images: (a) Karyogram of the proband with derivative chromosome 8 (indicated by arrow) containing a large segment of the long arm of chromosome 13 resulting in unbalanced karyotype:partial trisomy 13q14-qter and partial monosomy 8p23-pter. (b) Ideograms of chromosome 8, chromosome 13, and der(8)t(8;13)(p23;q14); arrows indicate the breakpoints and the fusion in the derivative chromosome.
case_images: CRIM2019-4561761.007.jpg
case_images: PMC6413401_02_CRIM2019-4561761.007.jpg
case_images: fig7
case_images: The karyotype of the infant revealed the presence of a derivative chromosome 8 where a major portion of the long arm of an extra chromosome 13 had attached to the telomeric end of the short arm of chromosome 8 (Figure 7).
case_images: PMC6413401_03