Pelger-Huet anomaly

An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped neutrophils with bilobed nuclei in the peripheral blood smear.

Also known as: Pelger-Huet anomaly, PHA, Pelger Huet anomaly, Pelger-Huet nuclear anomaly, ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities

1 clinical trial for this condition and its sub-types, 0 tagged with Pelger-Huet anomaly itself.