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: 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.
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Authors | Sule Unal, Yasemin Alanay, Mualla Cetin, Koray Boduroglu, Eda Utine, Valerie Cormier-Daire, Celine Huber, Yasemin Ozsurekci, Esra Kilic, Ozlem Pelin Simsek Kiper, Fatma Gumruk |
Journal | Pediatric blood & cancer
(Pediatr Blood Cancer)
Vol. 61
Issue 2
Pg. 302-5
(Feb 2014)
ISSN: 1545-5017 [Electronic] United States |
PMID | 24106199
(Publication Type: Case Reports, Journal Article)
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Copyright | © 2013 Wiley Periodicals, Inc. |
Chemical References |
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Topics |
- Anemia, Iron-Deficiency
(diagnosis, etiology)
- Antigens
(genetics)
- Child
- Child, Preschool
- Dwarfism
(complications, genetics)
- Female
- Fetal Growth Retardation
(genetics)
- Follow-Up Studies
- Humans
- Infant
- Leukocytosis
(diagnosis, etiology)
- Male
- Microcephaly
(complications, genetics)
- Mutation
(genetics)
- Osteochondrodysplasias
(complications, genetics)
- Prognosis
- Thrombocytosis
(diagnosis, etiology)
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