PMC6413401_01
Antenatal ultrasound showed left-sided pelvic-ureteral junction stenosis.
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The mother at 27 weeks gestational age did intrauterine ultrasound and showed severe left-sided pelvic-ureteral junction (PUJ) stenosis (Figure 1).
Trigonocephaly, hypotelorism, depressed nose bridge, and long philtrum.
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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).
PMC6413401_02
Abdominal CT showed left-sided pelvic-ureteral junction severe stenosis.
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Abdominal ultrasound and CT showed severe left-sided PUJ stenosis and right-sided hydronephrosis (Figure 3).
MCUG showed right-sided VUR grade III.
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MCUG showed right-sided vesicoureteral reflux (VUR) grade III (Figure 4).
CT showed metopic suture craniosynostosis.
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Brain CT showed normal brain and craniosynostosis of metopic suture (Figure 5).
Chest CT showed the patchy area of consolidation in the posterior segment of the lower lobe of the lung.
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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).
(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.
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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).
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