A 45-day-old male patient, product of the third pregnancy of 34-year-old mother and 40-year-old father, non-consanguineous, with two apparently healthy siblings, with no relevant family history.
The persistent mother coughed throughout pregnancy, with no predominance of hours, treated with nebulizations with salbutamol and, in the second trimester of pregnancy, with repeated vaginal infections whose management is unknown.
The product was obtained by cesarean section at 36 weeks of gestation; weight: 2800 g, with bilateral choanal atresia (BCA), encephalocele, hydrocephalia of the placenta without dark hands and remnants data.
On the 5th day of life a ventriculoperitoneal shunt was placed and an encephalocele repair was performed; at two weeks he developed nosocomial pneumonia.
At the current physical examination, weight: 3150 g (percentile 3); height: 52 cm (percentile 20); left frontotemporal plagiocephalia with prominent left frontotemporal contour hyperplasia; left frontotemporal contour band with prominent gingival contour with 10 cm bridge scar with pye; left frontotemporal contour
1.
Laboratory studies were within normal parameters; karyotype with resolution of 550 bands and G-banding technique in 40 metaphases was reported: 46, XY distal hand and distal foot x-rays were observed.
Echocardiogram was normal.
The simple axial tomography of skull revealed: right ophthalmia, frontoparietal encephalocele and right megaventricle.
The ABC with mixed atretic plate was confirmed by computed axial tomography, performing endoscopic correction at 10 months of age.
