{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T05:46:16Z","timestamp":1761630376805},"reference-count":22,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,5]],"date-time":"2005-06-05T00:00:00Z","timestamp":1117929600000},"content-version":"vor","delay-in-days":5575,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1990,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A diagnosis of Smith\u2013Lemli\u2013Opitz syndrome was made shortly after birth in a small\u2010fordates infant, on the basis of a characteristic face, penoscrotal hypospadias, bilateral postaxial hexadactyly, and bilateral syndactyly of toes 2\u20133. The clinical course was marked by failure to thrive, severe delay, refractory myoclonic jerks beginning at age 2 months, and increasing hepatosplenomegaly. He developed corneal clouding and increased gingival hypertrophy and died at age 18 weeks. Autopsy disclosed widespread storage of mucopolysaccharides and lipids within the macrophages and, to a lesser extent, parenchymal cells, of all organ systems. There was extensive demyelination of the cerebral white matter, and dystrophic calcification in the cerebrum, cerebellum, and brainstem. There was no evidence of primary neuronal involvement in the storage. Although the chance concurrence of 2 uncommon diseases is rare, a causal link between the clinical anomalies and the storage disorder cannot be argued convincingly on the basis of one case. Careful pathologic studies of other children who die with clinical signs compatible with Smith\u2013Lemli\u2013Opitz syndrome are indicated.<\/jats:p>","DOI":"10.1002\/ajmg.1320350317","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:45:23Z","timestamp":1118547923000},"page":"397-405","source":"Crossref","is-referenced-by-count":20,"title":["Apparent Smith\u2013Lemli\u2013Opitz syndrome in a child with a previously undescribed form of mucolipidosis not involving the neurons"],"prefix":"10.1002","volume":"35","author":[{"given":"Sharon","family":"Parnes","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alasdair G. W.","family":"Hunter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmencita","family":"Jimenez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Blair F.","family":"Carpenter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ian","family":"MacDonald","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,5]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(80)80734-7"},{"key":"e_1_2_1_3_1","unstructured":"CohenB BerryG KaplanP RorkeL ChuangD DeVivoD(1988): Congenital cerebral and systemic malformations in inborn errors of metabolism. In \u201cNinth Annual David W Smith Workshop on Malformations and Morphogenesis \u201d Oakland CA August 1988 A111."},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260110"},{"key":"e_1_2_1_5_1","first-page":"320","volume-title":"Textbook of Neuropathology","author":"Davis RL","year":"1985"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.23.1.64"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1973.tb04865.x"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00569920"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(83)80665-9"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-196310000-00001"},{"key":"e_1_2_1_11_1","unstructured":"GrahamJMJr ReynoldsJF KelleyRI(1988): Cardio\u2010facial\u2010cutaneous (CFC) syndrome: A possible defect in fatty acid oxidation. In \u201cNinth Annual David W Smith Workshop on Malformations and Morphogenesis \u201d Oakland CA August 1988 A14."},{"key":"e_1_2_1_12_1","unstructured":"JohnstonKM WeinsteinSL(1988): Inborn errors of metabolism presenting with structural central nervous system anomalies in neonates. In \u201cNinth Annual David W Smith Workshop on Malformations and Morphogenesis \u201d Oakland CA August 1988 A7."},{"key":"e_1_2_1_13_1","first-page":"43A","article-title":"Congenital sialidosis: Biochemical studies: Clinical spectrum in four sibs: Two successful prenatal diagnoses","volume":"32","author":"Johnson WG","year":"1980","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1983.tb01855.x"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.2.88"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00688114"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(86)80774-0"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(76)90258-6"},{"key":"e_1_2_1_19_1","first-page":"147","article-title":"A severe infantile mucolipidosis","volume":"107","author":"Riches W","year":"1983","journal-title":"Arch Pathol Lab Med"},{"key":"e_1_2_1_20_1","first-page":"281","article-title":"Perinatal sudanophilic leukodystrophy","volume":"125","author":"Sarnat HB","year":"1973","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_21_1","first-page":"98","volume-title":"Recognizable Patterns of Human Malformation","author":"Smith DW","year":"1982"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1976.00500120032005"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1983.tb02218.x"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320350317","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320350317","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T19:46:07Z","timestamp":1698003967000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320350317"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1990,3]]},"references-count":22,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1990,3]]}},"alternative-id":["10.1002\/ajmg.1320350317"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320350317","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1990,3]]}}}