Trisomy 18 and Ambiguous Genitalia: A Case Report

Trisomy 18 (Edwards syndrome) is a rare chromosomal disorder characterized by multiple congenital anomalies and poor survival. While the clinical spectrum is well-documented, ambiguous genitalia is not commonly associated with this syndrome and is infrequently reported in the literature.

We report the case of a 35-day-old female infant presenting with respiratory distress and ambiguous genitalia. Physical examination revealed multiple dysmorphic features including micrognathia, dysmorphic facial features, low-set ears, agenesis of the left auricle, and limb abnormalities such as rocker-bottom feet. Ambiguous genitalia were staged as Prader and Sinnecker stage 2. Echocardiography revealed complex congenital cardiac defects, and chromosomal analysis confirmed 47,XX,+18. Despite severe anomalies, the patient remained clinically stable with supportive care. A multidisciplinary follow-up was initiated.

This case highlights the importance of considering chromosomal anomalies such as Edwards syndrome in neonates with ambiguous genitalia, even in the absence of typical phenotypic findings. The presence of ambiguous genitalia should not preclude the diagnosis of Trisomy 18. Early recognition and genetic confirmation allow for appropriate counseling and management.

This case contributes to the limited body of literature documenting ambiguous genitalia in Trisomy 18. Recognizing rare phenotypic presentations expands our understanding of the clinical heterogeneity of Edwards syndrome and supports early cytogenetic evaluation in neonates with multisystem anomalies.