Striking Hematological Abnormalities in Patients With Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPD II): A Potential Role of Pericentrin in Hematopoiesis


ÜNAL S., ALANAY Y., Cetin M., BODUROĞLU O. K., Utine E., Cormier-Daire V., ...More

PEDIATRIC BLOOD & CANCER, vol.61, no.2, pp.302-305, 2014 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 61 Issue: 2
  • Publication Date: 2014
  • Doi Number: 10.1002/pbc.24783
  • Journal Name: PEDIATRIC BLOOD & CANCER
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.302-305
  • Keywords: leukocytosis, MOPD II, pericentrin, thrombocytosis, MULTIPLE INTRACRANIAL ANEURYSMS, SECKEL-SYNDROME, SHORT STATURE, CENTROSOME ABERRATIONS, MYELOID-LEUKEMIA, MOYAMOYA-DISEASE, CLINICAL REPORT, MUTATIONS, STROKE, GROWTH
  • Acibadem Mehmet Ali Aydinlar University Affiliated: Yes

Abstract

BackgroundMicrocephalic osteodysplastic primordial dwarfism type II (MOPD II) is a rare primordial dwarfism that is similar to Seckel syndrome. Seckel syndrome is known to be associated with various hematological abnormalities; however, hematological findings in MOPD II patients have not been previously reported. The present study aimed to describe the hematological findings in a series of eight patients with MOPD II from a single center.