Congenital neutropenia associated with phlebectasias and persistent fetal circulation.
Neutropenia with abnormal mobility of neutrophils is described in 3 related patients. All presented generalized phlebectasias; 2 had also persistent fetal circulation. One patient died at the age of 2 days from severe pulmonary hypoplasia and bilateral pneumothorax. It is speculated that the defective neutrophil mobility and the vascular abnormalities could be due to a common, genetically inherited, basic defect.
D000380:Agranulocytosis / Q000151:congenital*; D002648:Child; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009503:Neutropenia / Q000151:congenital* / Q000235:genetics / Q000276:immunology; D010375:Pedigree; D010547:Persistent Fetal Circulation Syndrome / Q000150:complications*; D014652:Vascular Diseases / Q000151:congenital; D014680:Veins