[May-Hegglin's syndrome. Hereditary macrothrombocytopenia with inclusions in neutrophil granulocytes].
May-Hegglin's anomaly is a rare, autosomally dominant inherited syndrome not previously described in Norway. We report two cases, sisters with characteristic light and electron microscopic inclusions in the granulocytes, thrombocytopenia and giant platelets. The relevant literature is briefly reviewed.
Stavem
P
P
Hematologisk seksjon Medisinsk avdeling A, Rikshospitalet, Oslo.
Hovig
T
T
Brosstad
F
F
Holm
B
B
D000328:Adult; D001792:Blood Platelets / Q000648:ultrastructure; D005260:Female; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure*; D008297:Male; D008854:Microscopy, Electron; D009504:Neutrophils / Q000648:ultrastructure*; D009664:Norway; D010375:Pedigree; D013577:Syndrome; D013921:Thrombocytopenia / Q000097:blood / Q000235:genetics* / Q000473:pathology
May-Hegglins syndrom. Hereditaer makrotrombocytopeni med inklusjoner i nøytrofile granulocytter.