Pelger-Huet Anomaly
Synonyms
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