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

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

Sule Unal  1 , Yasemin Alanay, Mualla Cetin, Koray Boduroglu, Eda Utine, Valerie Cormier-Daire, Celine Huber, Yasemin Ozsurekci, Esra Kilic, Ozlem Pelin Simsek Kiper, Fatma Gumruk
Affiliations
Case Reports

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

Sule Unal et al. Pediatr Blood Cancer. 2014 Feb.

Abstract

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.

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