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Xu, R. Microcephalic Osteodysplastic Primordial Dwarfism TypeII. Encyclopedia. Available online: https://encyclopedia.pub/entry/4168 (accessed on 28 September 2026).
Xu R. Microcephalic Osteodysplastic Primordial Dwarfism TypeII. Encyclopedia. Available at: https://encyclopedia.pub/entry/4168. Accessed September 28, 2026.
Xu, Rita. "Microcephalic Osteodysplastic Primordial Dwarfism TypeII" Encyclopedia, https://encyclopedia.pub/entry/4168 (accessed September 28, 2026).
Xu, R. (2020, December 23). Microcephalic Osteodysplastic Primordial Dwarfism TypeII. In Encyclopedia. https://encyclopedia.pub/entry/4168
Xu, Rita. "Microcephalic Osteodysplastic Primordial Dwarfism TypeII." Encyclopedia. Web. 23 December, 2020.
Microcephalic Osteodysplastic Primordial Dwarfism TypeII
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/microcephalic-osteodysplastic-primordial-dwarfism-type-ii

Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a condition characterized by short stature (dwarfism) with other skeletal abnormalities (osteodysplasia) and an unusually small head size (microcephaly).

genetic conditions

References

  1. Bober MB, Khan N, Kaplan J, Lewis K, Feinstein JA, Scott CI Jr, Steinberg GK. Majewski osteodysplastic primordial dwarfism type II (MOPD II): expanding thevascular phenotype. Am J Med Genet A. 2010 Apr;152A(4):960-5. doi:10.1002/ajmg.a.33252.
  2. Hall JG, Flora C, Scott CI Jr, Pauli RM, Tanaka KI. Majewski osteodysplasticprimordial dwarfism type II (MOPD II): natural history and clinical findings. Am J Med Genet A. 2004 Sep 15;130A(1):55-72. Review.
  3. Rauch A, Thiel CT, Schindler D, Wick U, Crow YJ, Ekici AB, van Essen AJ,Goecke TO, Al-Gazali L, Chrzanowska KH, Zweier C, Brunner HG, Becker K, Curry CJ,Dallapiccola B, Devriendt K, Dörfler A, Kinning E, Megarbane A, Meinecke P,Semple RK, Spranger S, Toutain A, Trembath RC, Voss E, Wilson L, Hennekam R, deZegher F, Dörr HG, Reis A. Mutations in the pericentrin (PCNT) gene causeprimordial dwarfism. Science. 2008 Feb 8;319(5864):816-9. doi:10.1126/science.1151174.
  4. Willems M, Geneviève D, Borck G, Baumann C, Baujat G, Bieth E, Edery P, Farra C, Gerard M, Héron D, Leheup B, Le Merrer M, Lyonnet S, Martin-Coignard D,Mathieu M, Thauvin-Robinet C, Verloes A, Colleaux L, Munnich A, Cormier-Daire V. Molecular analysis of pericentrin gene (PCNT) in a series of 24Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II)families. J Med Genet. 2010 Dec;47(12):797-802. doi: 10.1136/jmg.2009.067298.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Rita Xu
View Times: 755
Entry Collection: MedlinePlus
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Update Date: 23 Dec 2020
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