Pelger-Huet Anomaly


Anomaly, Pelger-Huet

Anomaly, Pelger-Huet Nuclear

Anomaly, Pseudo Pelger-Huet

Nuclear Anomaly, Pelger-Huet

Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy and Skeletal Abnormalities

Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy, and Skeletal Abnormalities

Pelger Huet Anomaly

Pelger Huet Nuclear Anomaly

Pelger-Huet Anomaly, Pseudo

Pelger-Huet Nuclear Anomaly

Pseudo Pelger Huet Anomaly

Pseudo Pelger Huet Nuclear Anomaly

Pseudo Pelger-Huet Anomaly

Pseudo Pelger-Huet Nuclear Anomaly

Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures.

See Also