Exomphalos and trisomy 18 syndrome. Report of two cases

Area of Science:

• Medical Genetics
• Developmental Biology
• Pediatric Surgery

Background:

• Trisomy 18 syndrome, also known as Edwards syndrome, is a genetic disorder caused by the presence of an extra chromosome 18.
• Exomphalos is a congenital anomaly where the intestines and other abdominal organs remain outside the body due to a defect in the abdominal wall.
• Male pseudohermaphroditism refers to a condition where an individual with male chromosomes (XY) has external genitalia that are not distinctly male.

Observation:

• Two infants diagnosed with clinically and cytogenetically confirmed trisomy 18 syndrome presented with a large exomphalose.
• One of these infants also exhibited features of male pseudohermaphroditism.

Findings:

• The co-occurrence of large exomphalose in trisomy 18 syndrome suggests a potential link between chromosomal abnormalities and specific congenital defects.
• The additional finding of male pseudohermaphroditism in one case further complicates the clinical picture and may indicate shared developmental pathways.

Implications:

• This case report expands the known spectrum of congenital anomalies associated with trisomy 18 syndrome.
• Understanding these complex presentations is crucial for accurate diagnosis, genetic counseling, and management of affected infants.
• Further research may elucidate the specific genetic and developmental mechanisms underlying these combined conditions.