{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T11:29:00Z","timestamp":1789471740055,"version":"build-2803163510"},"reference-count":5,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,7,8]],"date-time":"2005-07-08T00:00:00Z","timestamp":1120780800000},"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":[[2005,8,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"#bib3\">1998<\/jats:ext-link>, Pierpont et al. reported on two unrelated boys with plantar lipomatosis, unusual facial phenotype, and developmental delay as a possible new MR\/MCA syndrome. Here we report on a 2\u2010year\u2010old boy with similar manifestations: axial hypotonia in the first few months, prolonged feeding problems, moderate developmental delay, no speech development, deep palmar and plantar grooves, fat pads at the anteromedial aspect of the heels, and a distinct facial phenotype (high forehead, high anterior hairline, mild midfacial hypoplasia, remarkably narrow and upward slanted palpebral fissures, broad nasal ridge and tip, broad philtrum, bowed upper lip, \u201cpouting\u201d lower lip, full cheeks, and flat occiput). Brain MRI and MR spectroscopy studies showed relatively small frontal lobes, some widening of the lateral and third ventricles, and increased choline levels in the frontal white matter. Cytogenetic studies in lymphocytes and skin fibroblasts and whole genome micro\u2010array CGH failed to show abnormalities. The present patient has a phenotype almost identical to that of the earlier reported children (Pierpont et al. [<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"#bib3\">1998<\/jats:ext-link>]: Am J Med Genet 75:18\u201321), which thereby validates this as a separate MR\/MCA syndrome, appropriately designated Pierpont syndrome. The cause of the entity remains uncertain, the most likely etiologies being X\u2010linked recessive or autosomal dominant genes. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30863","type":"journal-article","created":{"date-parts":[[2005,7,8]],"date-time":"2005-07-08T20:38:12Z","timestamp":1120855092000},"page":"77-80","source":"Crossref","is-referenced-by-count":17,"title":["Plantar lipomatosis, unusual facies, and developmental delay: Confirmation of Pierpont syndrome"],"prefix":"10.1002","volume":"137A","author":[{"given":"Gr\u00e9tel G.","family":"Oudesluijs","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roel","family":"Hordijk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maartje","family":"Boon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul E.","family":"Sijens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raoul C.M.","family":"Hennekam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,7,8]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.10019"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/302829"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980106)75:1<18::AID-AJMG5>3.0.CO;2-M"},{"key":"e_1_2_5_5_1","first-page":"383","volume-title":"Catalogue of unbalanced chromosome aberrations in man","author":"Schinzel A","year":"2001"},{"key":"e_1_2_5_6_1","first-page":"1466","article-title":"New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum","volume":"23","author":"Van der Knaap MS","year":"2002","journal-title":"Am J Neuroradiol"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.30863","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30863","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T10:02:59Z","timestamp":1697623379000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30863"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,7,8]]},"references-count":5,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2005,8,15]]}},"alternative-id":["10.1002\/ajmg.a.30863"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30863","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,7,8]]}}}