Pedal oedema in a newborn male

This case report describes a rare presentation of a male infant with sex chromosome mosaicism – the presence of a mixture of cell populations with different X and Y chromosome constitutions. The diagnosis, investigation, management and counselling of sex chromosome mosaicism is discussed and a summary of current literature is provided. The case demonstrates the importance of thorough assessment and lateral thinking in neonates with unusual clinical features and highlights the significance of reporting long-term follow-up outcomes in conditions where the clinical course is unclear.

Mitchell J., Manjunatha C., Ibhanesebhor S., Gardiner C., Paterson L.