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Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations.
Am J Med Genet A 2012; 158A(11):2719-25AJ

Abstract

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.

Authors+Show Affiliations

Division of Medical Genetics, Alfred I. duPont Hospital for Children, Wilmington, Delaware 19083, USA. mbober@nemours.orgNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

22821869

Citation

Bober, Michael B., et al. "Growth in Individuals With Majewski Osteodysplastic Primordial Dwarfism Type II Caused By Pericentrin Mutations." American Journal of Medical Genetics. Part A, vol. 158A, no. 11, 2012, pp. 2719-25.
Bober MB, Niiler T, Duker AL, et al. Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations. Am J Med Genet A. 2012;158A(11):2719-25.
Bober, M. B., Niiler, T., Duker, A. L., Murray, J. E., Ketterer, T., Harley, M. E., ... Jackson, A. P. (2012). Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations. American Journal of Medical Genetics. Part A, 158A(11), pp. 2719-25. doi:10.1002/ajmg.a.35447.
Bober MB, et al. Growth in Individuals With Majewski Osteodysplastic Primordial Dwarfism Type II Caused By Pericentrin Mutations. Am J Med Genet A. 2012;158A(11):2719-25. PubMed PMID: 22821869.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations. AU - Bober,Michael B, AU - Niiler,Tim, AU - Duker,Angela L, AU - Murray,Jennie E, AU - Ketterer,Tara, AU - Harley,Margaret E, AU - Alvi,Sabah, AU - Flora,Christina, AU - Rustad,Cecilie, AU - Bongers,Ernie M H F, AU - Bicknell,Louise S, AU - Wise,Carol, AU - Jackson,Andrew P, Y1 - 2012/07/20/ PY - 2012/01/30/received PY - 2012/04/08/accepted PY - 2012/7/24/entrez PY - 2012/7/24/pubmed PY - 2013/6/25/medline SP - 2719 EP - 25 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 158A IS - 11 N2 - 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. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/22821869/Growth_in_individuals_with_Majewski_osteodysplastic_primordial_dwarfism_type_II_caused_by_pericentrin_mutations_ L2 - https://doi.org/10.1002/ajmg.a.35447 DB - PRIME DP - Unbound Medicine ER -