{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T22:32:39Z","timestamp":1778279559602,"version":"3.51.4"},"reference-count":18,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2019,9,11]],"date-time":"2019-09-11T00:00:00Z","timestamp":1568160000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2019,9,11]],"date-time":"2019-09-11T00:00:00Z","timestamp":1568160000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004844","name":"National Cheng Kung University Hospital","doi-asserted-by":"publisher","award":["NCKUH-10804019"],"award-info":[{"award-number":["NCKUH-10804019"]}],"id":[{"id":"10.13039\/501100004844","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Pediatr"],"published-print":{"date-parts":[[2019,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n              <jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II) is a rare disease that is assumed to be caused by a pericentrin (PCNT) gene mutation. Clinical manifestations have been reported in pediatrics and neurology; however, only a few ocular findings have been documented.<\/jats:p>\n              <\/jats:sec>\n              <jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>We present three unrelated cases of MOPD II with similar facial features and short stature. Unlike the cases described in the literature, all subjects had normal birth weight and height but their growth was retarded thereafter. In addition to delayed milestones, they have a broad forehead, maxillary protrusion, long peaked nose, high nasal bridge, low-set large ears, extreme reromicrogenia, and normal-sized teeth. These three patients had similar ocular manifestations with the short axial length associated with high hyperopia more than +\u20099 diopters (D) and macular scarring. The oldest subject was a 20\u2009year-old male without neurological symptoms. One female subject had developed alopecia during the previous 2 years. The other female subject had moyamoya disease, but a genetic study revealed a normal PCNT gene.<\/jats:p>\n              <\/jats:sec>\n              <jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>This is the first report of MOPD II focusing on ocular findings, suggesting that macular dystrophy and high hyperopia are the common ocular characteristics of MOPD II. Prompt referral to an ophthalmologist is essential. Although refractive amblyopia can be treated with optical correction, visual prognosis may be poor due to maculopathy.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12887-019-1685-2","type":"journal-article","created":{"date-parts":[[2019,9,11]],"date-time":"2019-09-11T06:53:33Z","timestamp":1568184813000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Ocular characteristics in a variant microcephalic primordial dwarfism type II"],"prefix":"10.1186","volume":"19","author":[{"given":"Wan-Ju","family":"Chen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fu-Chin","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Min-Hsiu","family":"Shih","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2019,9,11]]},"reference":[{"key":"1685_CR1","doi-asserted-by":"publisher","first-page":"2011","DOI":"10.1101\/gad.169037","volume":"25","author":"A Klingseisen","year":"2011","unstructured":"Klingseisen A, Jackson AP. Mechanisms and pathways of growth failure in primordial dwarfism. Genes Dev. 2011;25:2011\u201324.","journal-title":"Genes Dev"},{"key":"1685_CR2","doi-asserted-by":"publisher","first-page":"797","DOI":"10.1136\/jmg.2009.067298","volume":"47","author":"M Willems","year":"2010","unstructured":"Willems M, Genevieve D, Borck G, et al. Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel\/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families. J Med Genet. 2010;47:797\u2013802.","journal-title":"J Med Genet"},{"key":"1685_CR3","doi-asserted-by":"publisher","first-page":"1387","DOI":"10.1007\/s11011-015-9712-y","volume":"30","author":"FF Li","year":"2015","unstructured":"Li FF, Wang XD, Zhu MW, et al. Identification of two novel critical mutations in PCNT gene resulting in microcephalic osteodysplastic primordial dwarfism type II associated with multiple intracranial aneurysms. 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(NCKUH-10804019). We had parental written consent.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent for the publication of this Case Report, including the patients\u2019 identifiable data and images, were received from the parents and\/or the parents.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"329"}}