A case report reveals severe pulmonary hypertension in an infant with trisomy 9 mosaicism, indicating challenges in management.
This case is unique for several reasons: micrognathia requiring distraction, absent external ears, severe pulmonary hypertension requiring patent ductus arteriosus closure, and long-term oxygen therapy. To our knowledge, this is the first reported trisomy 9 mosaicism case with such a severe pulmonary hypertensive crisis necessitating aggressive intervention. Although historically associated with poor outcomes, improved neonatal care contributes to increasing survival in infants with trisomy 9 mosaicism.
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Ajour et al. (2026) studied this question.
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