Abnormal neutrophil chemotaxis in a syndrome of unusual facies, proportionate small stature and sensorineural deafness-mutism.
Two of 5 children in one family presented with unique facies, proportionate small stature and sensorineural deafness-mutism. One of the children who had a history of recurrent infections, was shown to have a defect of leukocyte chemotaxis. Although impairment of chemotaxis could not be demonstrated in the other affected sibling, it is unlikely that the association of a previously undescribed syndrome and a rare disorder of chemotaxis is a chance occurrence.
D000015:Abnormalities, Multiple / Q000276:immunology; D001827:Body Height; D002634:Chemotaxis, Leukocyte; D002648:Child; D003638:Deafness / Q000276:immunology; D005145:Face; D005260:Female; D006130:Growth Disorders / Q000276:immunology*; D006801:Humans; D007223:Infant; D007866:Leg / Q000000981:diagnostic imaging; D008297:Male; D009504:Neutrophils / Q000276:immunology*; D011859:Radiography; D012886:Skull / Q000000981:diagnostic imaging