Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): a potential role of pericentrin in hematopoiesis

Pediatr Blood Cancer. 2014 Feb;61(2):302-5. doi: 10.1002/pbc.24783. Epub 2013 Sep 17.


Background: Microcephalic 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.

Materials and methods: The study included eight patients with MOPD II that were analyzed via molecular testing, and physical and laboratory examinations.

Results: Molecular testing showed that seven of the eight patients had pericentrin (PCNT) gene mutations. Hematological evaluation showed that 7 (87.5%) patients had thrombocytosis, 6 (75%) had leukocytosis, 5 (62.5%) had both leukocytosis and thrombocytosis, and 2 (25%) had anemia.

Conclusions: We report leukocytosis and thrombocytosis as a common hematologic abnormality in patients with MOPD II. The present findings may improve our understanding of the potential function of the PCNT gene in hematopoietic cell proliferation and differentiation.

Keywords: MOPD II; leukocytosis; pericentrin; thrombocytosis.

Publication types

  • Case Reports

MeSH terms

  • Anemia, Iron-Deficiency / diagnosis
  • Anemia, Iron-Deficiency / etiology*
  • Antigens / genetics*
  • Child
  • Child, Preschool
  • Dwarfism / complications*
  • Dwarfism / genetics
  • Female
  • Fetal Growth Retardation / genetics
  • Follow-Up Studies
  • Humans
  • Infant
  • Leukocytosis / diagnosis
  • Leukocytosis / etiology*
  • Male
  • Microcephaly / complications*
  • Microcephaly / genetics
  • Mutation / genetics*
  • Osteochondrodysplasias / complications*
  • Osteochondrodysplasias / genetics
  • Prognosis
  • Thrombocytosis / diagnosis
  • Thrombocytosis / etiology*


  • Antigens
  • pericentrin

Supplementary concepts

  • Microcephalic Osteodysplastic Primordial Dwarfism, Type II