None of the authors have any conflicts of interest to disclose.
Article first published online: 20 JUL 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Special Issue: SPECIAL ISSUE: GROWTH CHARTS IN GENETIC SYNDROMES
Volume 158A, Issue 11, pages 2719–2725, November 2012
How to Cite
Bober, M. B., Niiler, T., Duker, A. L., Murray, J. E., Ketterer, T., Harley, M. E., Alvi, S., Flora, C., Rustad, C., Bongers, E. M.H.F., Bicknell, L. S., Wise, C. and Jackson, A. P. (2012), Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations. Am. J. Med. Genet., 158A: 2719–2725. doi: 10.1002/ajmg.a.35447
How to Cite this Article: Bober MB, Niiler T, Duker AL, Murray JE, Ketterer T, Harley ME, Alvi S, Flora C, Rustad C, Bongers EMHF, Bicknell LS, Wise C, Jackson AP. 2012. Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations. Am J Med Genet Part A 158A: 2719–2725.
- Issue published online: 17 OCT 2012
- Article first published online: 20 JUL 2012
- Manuscript Accepted: 8 APR 2012
- Manuscript Received: 30 JAN 2012
- Potentials Foundation
- Giants Foundation
- Texas Scottish Rite Hospital for Children
- Lister Institute for Preventative Medicine
- primordial dwarfism;
Microcephalic primordial dwarfism (MPD) is a class of disorders characterized by intrauterine growth restriction (IUGR), impaired postnatal growth and microcephaly. Majewski osteodysplastic primordial dwarfism type II (MOPD II) is one of the more common conditions within this group. MOPD II is caused by truncating mutations in pericentrin (PCNT) and is inherited in an autosomal recessive manner. Detailed growth curves for length, weight, and OFC are presented here and derived from retrospective data from 26 individuals with MOPD II confirmed by molecular or functional studies. Severe pre- and postnatal growth failure is evident in MOPD II patients. The length, weight, and OFC at term (when corrected for gestational age) were −7.0, −3.9, and −4.6 standard deviation (SD) below the population mean and equivalent to the 50th centile of a 28–29-, 31–32-, and 30–31-week neonate, respectively. While at skeletal maturity, the height, weight, and OFC were −10.3, −14.3, and −8.5 SD below the population mean and equivalent to the size of 3-year 10- to 11-month-old, a 5-year 2- to 3-month-old, and 5- to 6-month-old, respectively. During childhood, MOPD II patients grow with slowed, but fairly constant growth velocities and show no evidence of any pubertal growth spurt. Treatment with human growth hormone (n = 11) did not lead to any significant improvement in final stature. The growth charts presented here will be of assistance with diagnosis and management of MOPD II, and should have particular utility in nutritional management of MOPD II during infancy. © 2012 Wiley Periodicals, Inc.