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This infant has a clinical course consistent with mucolipidosis type II (I\u2010cell disease) along with confirmatory biochemical, cytologic, and radiographic evidence. This case expands the phenotypic spectrum of mucolipidosis type II. Having redefined the diagnosis in one of the original cases of Pacman dysplasia, we suggest that what is called Pacman dysplasia could very well be Mucolipidosis type II (ML\u2010II) in other published reports. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30716","type":"journal-article","created":{"date-parts":[[2005,5,10]],"date-time":"2005-05-10T18:19:27Z","timestamp":1115749167000},"page":"328-332","source":"Crossref","is-referenced-by-count":21,"title":["Prenatal mucolipidosis type II (I\u2010cell disease) can present as Pacman dysplasia"],"prefix":"10.1002","volume":"135A","author":[{"given":"Robert A.","family":"Saul","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Virginia","family":"Proud","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harold A.","family":"Taylor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jules G.","family":"Leroy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jurgen","family":"Spranger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,5,10]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(75)80583-X"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1995.tb03958.x"},{"key":"e_1_2_4_4_1","first-page":"3469","volume-title":"The metabolic and molecular bases of inherited disease","author":"Kornfeld S","year":"2001"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00975678"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(71)80142-7"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-002-0859-4"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02010640"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00427708"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02011908"},{"key":"e_1_2_4_11_1","first-page":"186","article-title":"Non\u2010immune hydrops: A marker for inborn errors of metabolism?","volume":"81","author":"Prasad C","year":"2004","journal-title":"Mol Genet Metabol"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1977.tb01286.x"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320450506"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00278928"},{"key":"e_1_2_4_15_1","first-page":"57","volume-title":"Bone dysplasias: An atlas of genetic disorders of the skeletal development","author":"Spranger J","year":"2003"},{"key":"e_1_2_4_16_1","volume-title":"Radiology of syndromes, metabolic disorders, and skeletal dysplasias","author":"Taybi H","year":"1996"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-004-1591-x"},{"key":"e_1_2_4_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980526)77:4<272::AID-AJMG4>3.0.CO;2-P"}],"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.30716","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30716","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T18:55:58Z","timestamp":1697655358000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30716"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,5,10]]},"references-count":17,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2005,6,15]]}},"alternative-id":["10.1002\/ajmg.a.30716"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30716","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,5,10]]}}}