Abstract
Three infants presented with tracheal obstruction at birth and were later found to have genitourinary anomalies. Infants #1 and #2 were siblings of the same sex (male) born a year apart. Infant #1 died in delivery. Autopsy revealed laryngeal stenosis with a pinpoint opening at the tracheal introitus, renal hypoplasia, malformed penis with protruding foreskin and hypospadias. Infant #2 failed to breathe at birth. Trials at intubation failed and tracheotomy was performed subsequently with successful ventilation. Bronchoscopy revealed laryngeal stenosis with a pinpoint opening at the tracheal introitus with redundant skin at the nape of the neck, a malformed penis with protruding foreskin and absent meatus, and was anuric. Investigation showed no functioning renal tissue. Autopsy confirmed the above findings and absent ureters, bladder, urethra and prostrate. Karyotyping showed a 46 XY male. Infant #3 was born to a 37 YO diabetic mother. Unsuccessful attempts were made at intubation. Bronchoscopy revealed a tracheal web. She also had cardiac anomalies and expired at five days of age. Autopsy revealed absence of intrapelvic genital organs and left kidney. Chromosome analysis showed a 46 XX female. We suggest that there is an association of tracheal obstruction and genitourinary anomalies.
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Amma, P., Katzman, G., Krishnan, V. et al. 1196 ASSOCIATION OF CONGENITAL TRACHEAL OBSTRUCTION AND GENITOURINARY ANOMALIES IN THE NEWBORN. Pediatr Res 15 (Suppl 4), 642 (1981). https://doi.org/10.1203/00006450-198104001-01222
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DOI: https://doi.org/10.1203/00006450-198104001-01222