{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T10:51:35Z","timestamp":1790419895849,"version":"4.1.0"},"reference-count":22,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2012,7,20]],"date-time":"2012-07-20T00:00:00Z","timestamp":1342742400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2012,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>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\u2010 and postnatal growth failure is evident in MOPD II patients. The length, weight, and OFC at term (when corrected for gestational age) were \u22127.0, \u22123.9, and \u22124.6 standard deviation (SD) below the population mean and equivalent to the 50th centile of a 28\u201329\u2010, 31\u201332\u2010, and 30\u201331\u2010week neonate, respectively. While at skeletal maturity, the height, weight, and OFC were \u221210.3, \u221214.3, and \u22128.5 SD below the population mean and equivalent to the size of 3\u2010year 10\u2010 to 11\u2010month\u2010old, a 5\u2010year 2\u2010 to 3\u2010month\u2010old, and 5\u2010 to 6\u2010month\u2010old, 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\u2009=\u200911) 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. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35447","type":"journal-article","created":{"date-parts":[[2012,7,21]],"date-time":"2012-07-21T08:37:44Z","timestamp":1342859864000},"page":"2719-2725","source":"Crossref","is-referenced-by-count":45,"title":["Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations"],"prefix":"10.1002","volume":"158A","author":[{"given":"Michael B.","family":"Bober","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tim","family":"Niiler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela 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