{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T17:29:28Z","timestamp":1761154168547},"reference-count":20,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2002,3,15]],"date-time":"2002-03-15T00:00:00Z","timestamp":1016150400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,4,22]]},"abstract":"Abstract<\/jats:title>Neu\u2010Laxova Syndrome (NLS) is a severe disorder with intrauterine growth retardation, edema, and characteristic face (including microcephaly with receding forehead, protuberant eyes, a flattened nose, deformed ears, cleft palate, and micrognathia). Ichthyosis is often present. Limb anomalies include hypoplastic fingers and syndactyly of fingers and toes. Patients are usually stillborn or die shortly after birth. We report five unrelated patients\u2014four with atypical NLS and one with typical NLS. All five patients were stillbirths. Clinically, the atypical NLS patients showed a large skull; rhizo\u2010, meso\u2010, and acromelia; and hypoplasia of the metacarpals and phalanges. The feet were similarly affected. Radiographically, the atypical patients showed interpediculate narrowing and hypoplastic vertebral bodies. The long bones were stick\u2010like, showing diaphyseal widening that spared the metaphyses and was more pronounced in the lower extremities. The ilia had a half\u2010moon configuration with widening of the sacrosciatic notches. The ischia were vertical and the pubic bone was absent. The typical NLS patient showed microcephaly, normal vertebral body, and long bone ossification, but a pelvic configuration similar to that of the atypical NLS patients. The common and distinguishing clinical and radiographic features are reviewed. Scott et al. [1981<\/jats:ext-link>: Am J Med Genet 9:165\u2013175] described two patients with NLS with radiographic and clinical findings similar to patients 1\u20134 reported here. Patients 1\u20134 of this report lack the typical findings of NLS and likely represent a distinct lethal skeletal dysplasia. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10324","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T23:24:15Z","timestamp":1030317855000},"page":"139-148","source":"Crossref","is-referenced-by-count":7,"title":["Cerebro\u2010osseous\u2010digital syndrome: Four new cases of a lethal skeletal dysplasia\u2014distinct from Neu\u2010Laxova syndrome"],"prefix":"10.1002","volume":"109","author":[{"given":"Alison M.","family":"Elliott","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie","family":"Gonzales","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean\u2010Claude","family":"Hoeffel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martine","family":"Le Merrer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierre","family":"Maroteaux","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ferechte","family":"Encha\u2010Razavi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicole","family":"Joye","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Colette","family":"Berchel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian","family":"Fliegel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David J.","family":"Aughton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kelly","family":"Beaudry\u2010Rodgers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Farnez","family":"Hasteh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas G.","family":"Nerlich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William R.","family":"Wilcox","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David L.","family":"Rimoin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ralph S.","family":"Lachman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Freisinger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2002,3,15]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320130414"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320130415"},{"key":"e_1_2_11_4_1","unstructured":"FreisingerP LemerrerM MaroteauxP GonzalezM PontzBF NerlichA.2000.Neu\u2010Laxova syndrome with severe skeletal abnormalities\u2014a distinct entity? [Abstract]. International Skeletal Dysplasia Meetings Baden\u2010Baden Germany."},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320280104"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.3109\/15513819509026940"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1993.tb03815.x"},{"key":"e_1_2_11_8_1","first-page":"139","article-title":"A further example of a lethal autosomal recessive condition in sibs","volume":"16","author":"Laxova R","year":"1972","journal-title":"J Ment Defic Res"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320410109"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1673.1992.tb03075.x"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320160424"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350110"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20010215)99:1<14::AID-AJMG1121>3.0.CO;2-S"},{"key":"e_1_2_11_14_1","first-page":"190","article-title":"Lethal syndrome of multiple malformations","volume":"31","author":"Posysilova V","year":"1976","journal-title":"Cesk Pediatr"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002470100520"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320129"},{"key":"e_1_2_11_17_1","first-page":"213","article-title":"Radiography of stillborn infants","volume":"15","author":"Ryan J","year":"1971","journal-title":"Australas Radiol"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320090211"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430319"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320050104"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320270118"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.10324","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.10324","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,8]],"date-time":"2023-10-08T08:23:23Z","timestamp":1696753403000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.10324"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,3,15]]},"references-count":20,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2002,4,22]]}},"alternative-id":["10.1002\/ajmg.10324"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.10324","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"type":"print","value":"0148-7299"},{"type":"electronic","value":"1096-8628"}],"subject":[],"published":{"date-parts":[[2002,3,15]]}}}