{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,17]],"date-time":"2026-02-17T02:04:51Z","timestamp":1771293891374,"version":"3.50.1"},"reference-count":11,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,2]],"date-time":"2005-06-02T00:00:00Z","timestamp":1117670400000},"content-version":"vor","delay-in-days":6696,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1987,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A diagnosis of the NeuLaxova syndrome was made by ultrasonography in the third trimester of pregnancy.<\/jats:p><jats:p>Initial Ultrasonographic examination, at approximately 28 wk gestation, showed intrauterine growth retardation (IUGR), hypoechoic skeletal structures, kyphosis, feeble fetal activity, and restricted limb movement. Subsequent sonograms showed microcephaly with a receding forehead and prominent eyes, generalised edema and flexion deformities of limbs. Late third trimester findings included polyhydramnios, swelling and webbing of the knee and elbow joints, and severe edema of the hands and feet, giving the impression of absent digits.<\/jats:p><jats:p>The clinical features of this case are consistent with group II of Curry's classification of the Neu\u2010Laxova syndrome [Curry, 1982]. The histopathological findings, a triad of dermatological features, poor cortex formation of the long bones, and central nervous system (CNS) dysgenesis, are discussed.<\/jats:p><jats:p>In view of the 25% recurrence rate, at risk pregnancies should be carefully monitored by ultrasonography: at 6\u20138 wk for accurate dating, at 12\u201316 weeks for active fetal limb movement, and at 16\u201324 wk for facial and skeletal anomalies, the detection of IUGR, and polyhydramnios.<\/jats:p>","DOI":"10.1002\/ajmg.1320260221","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T02:46:36Z","timestamp":1118544396000},"page":"421-429","source":"Crossref","is-referenced-by-count":30,"title":["A case of the Neu\u2010Laxova syndrome: Prenatal ultrasonographic monitoring in the third trimester and the histopathological findings"],"prefix":"10.1002","volume":"26","author":[{"given":"Linnie M.","family":"Muller","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Greetje","family":"de Jong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S. C. E.","family":"Mouton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. J.","family":"Greeff","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Kirby","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Hewlett","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H. F.","family":"Jordaan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,2]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320130414"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320130415"},{"key":"e_1_2_1_4_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_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320030304"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320250113"},{"key":"e_1_2_1_7_1","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1542\/peds.47.3.610","article-title":"A lethal syndrome of microcephaly with multiple congenital anomalies in three siblings","volume":"47","author":"Neu R","year":"1971","journal-title":"Pediatrics"},{"key":"e_1_2_1_8_1","first-page":"190","article-title":"Letalni syndrom mnohocetnych malformaci u tri sourozencu","volume":"31","author":"Povylisova V","year":"1976","journal-title":"Cesk Pediatr"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320090211"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320200103"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320200102"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.20.3.227"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320260221","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320260221","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,21]],"date-time":"2023-10-21T05:10:36Z","timestamp":1697865036000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320260221"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1987,2]]},"references-count":11,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1987,2]]}},"alternative-id":["10.1002\/ajmg.1320260221"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320260221","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1987,2]]}}}